Event ID: 927426
Event Started: 2/12/2008 8:20:37 AM ET
Please stand by for real-time captioned text.
Please stand by for real-time captioned text.
[Captioner present on conference line with music and awaiting beginning of event.]
Everyone, welcome to the 15th, amazingly, 15th meeting of the Secretary Advisory Committee on Genetics, Health, and Society. A couple of quick housekeeping notes, your Blackberries, when they get information the electrical pulse at 18.7 MHz -- I made that part up. It goes right into the speakers and we get that sound. So move your Blackberries away away or turn them off. The thing, by the way, is yourself on. So the first person to do that, we are going to make you feel badly. The other thing is, to turn the microphone on you push a button and see a light, and that way you will be heard. We will wait for Kevin. So you missed that part about the cellphone and the Blackberries.
I have all mine on.
The other thing is, right now the webcast video is not on yet. There are some technical issues. It is unrelated to our crack team of dedicated folks in the back there and their work really appreciated. So the idea of is on to the internet, but not the video. The public was made aware of this meeting through notices in the federal registry as well as announcements on our web site. I want to welcome members of the public to are in attendance, as well as that many listeners tune in and via the webcast. Thank you all for your interest in all our work. Before I get into the substance of my opening remarks I do want to point out to the committee's great joy and happiness that my term is ending with this meeting. The secretary has been -- the secretary has made a very wise choice, and that is that Steve will now be your new chair. We decided that it would be fitting to make the transition on day two of the region. So as of tomorrow morning if the gavel will pass to Steve. I am absolutely pleased that the secretary has made it a tremendous choice and good luck to you, Steve.
Thank you, sir.
At the beginning of this meeting at take a moment and review our [ indiscernible ] plan and the status of our project. This gives us an overview of what we have accomplished. Today I am going to really ask for your forgiveness because I will go through this in some great detail. I think it is very important that this committee and especially the fact that we have so many wonderful new members to the committee, that you have a real sense of where we are in our process because tomorrow at the end of the day we are going to have a priority setting review process which will have a much more in-depth discussion of where you are headed for the future. And so tomorrow we will kick off a process of brainstorming about the issues that may warrant the committee's attention. So with that, if you will look at the slides that are available but me just start with the vision statement. If that describes our priority issues and how we reach them which were developed in 2004 and how it has consistently guided our work since then. So one of the things you may wind up doing is revisiting that mission statement, but ultimately as you see the timeline that we began in October 2003. In March we did the priority setting of '04, the discussion, and then in December we did the report. Public concern about the misuse of genetic information has always been our highest priority issue. We have written three letters to the Secretary championing the inaction of federal legislation to prohibit discrimination based on genetic information by both health insurers and employers. In early 2005 for provided the secretary with a legal analysis of the adequacy of current law regarding genetic discrimination. We provided him with a compendium of public comment documenting public fears about genetic discrimination and a compelling 10-minute DVD of compelling testimony we received from the public in the Fall of 2004. We strongly support genetic information on discrimination and the Genetic Nondiscrimination Act of 2007, it referred to as GNA which would prefer to [ indiscernible ] from discrimination based on genetic information could in their family, by employers, and insurers. We do not have dedicated supporters on both sides and in April of '07 it passed the house by a vote of for the 20 to three. The secretary is also on record as supporting such legislation, however last July Senator Tom Tolbert placed a hold on the bill. In the last few days the leaders attempted to attach it to the fiscal '08 spending bill, but were unsuccessful. An article from the January 14th of Congressional Quarterly which is in your table quarterly's provide more background on the current situation. The dialogue is hopeful that the procedural hold will be dropped and that it will be brought to the Senate for a vote early this legislative session. In June of '04 redeveloped a resolution about the importance of educating and training health professionals and genetics, and how these efforts could be enhanced. At our last meeting we convened a round table on this topic during which it became apparent to us that there are critical means and education and training. As such we created the genetics, education, and training taskforce which is chaired by Barbara Burns McGrath. Tomorrow she will present the charge of that taskforce, and we will discuss and finalize the charge so that this important taskforce can then proceed its work. In '06 we transmitted a report on coverage and reimbursement of genetic tests and services. This affects patients access to a genetic test and services and identifies nine steps that can be taken to overcome these limitations. The recommendations cover a range of topics including evidenced decision making, a the adequacy of billing codes, billing by non-physician genetic counseling providers and genetics education of health professionals. In July of '07 CMS sent feedback back to us on our recommendations. A small group of our committee led by the terrific Mark Williams reviewed the comments and found several areas that required follow-up with CMS. In December we had a very encouraging call with CMS leadership and Dr. Barry Stroud in particular and his staff. A summary of that call can be found in your table folders. There are two important messages that we want to emphasize that we took away from that call. Number one, the eagerness on the part of CMS to learn more about and be more actively involved in various genetic initiatives within its as S and it's agencies, but particularly in the area of family history initiatives and CDC's program. Second, that we were impressed by the eagerness in taking and continuing to move forward in helping to personalize medical genomics and transforming the modern health care delivery system. Their eagerness was clear and wanting to explore how the Medicare program to take advantage of the agenda is and benefits that Javits -- genetics has to offer and are also of course being fiscally responsible. We provided his team with information that will help them pursue these goals and identified for them some areas that they should take a closer look at as they proceed. Two years have passed since we transmitted our recommendations, and while we are excited by the leadership of the team in taking action on our recommendations we have also been truly impressed that some of our recommendations in the opinion of CMS will require legislative authority that they currently do not have if they are to act on at least one of our key recommendations, particularly the one that is involved with urgent Medicare to cover services indicated by a family history of disease. If this is so important to us that I recommend that we write to the secretary calling for legislation or asking the administration to push for legislation to give them the authority to act. Also, since the coverage report was written there has been some developments management billing for genetic counseling services. These developments are technical in nature, and I will review them here. Is the sense of the effect genetic counselors options when billing. In light of these I think we should also ask the secretary to clarify if genetic counselors of at options to renew some listed action might be needed to remedy the situation dependent upon the nature of the response. Although it was not part of our support I believe this new legislation is consistent with the spirit of the report. A draft letter addressing these two issues will be distributed to you later today. I want the committee to take a look at the letter and let Susan Goodwyn know if you have any changes to suggest or if you have any issues. They will be distributed letter. You would get into that. No problem to be it good. That is why we are doing this. If you have a question about it lettuces and of that you have issues and then we well, if necessary, have a discussion about that. If it's straightforward to get it into the hands of the secretary. We all know and understand that we cannot press for legislation. Must it to the secretary and that is why we are taking this step. In '05 and '07 to letters on the issue of genetic consumer marketing. Our efforts lead to enhanced collaboration among CDC and [ indiscernible ]. And '06 a consumer alert was issued to warn consumers about using at-home genetic tests that have not been evaluated and to be wary of the claims made by companies. As part of the personalized health care initiative the secretary office is organizing an informal working group that includes various HHS agencies and the FDC to explore direct to consumer genetic testing services. This personalized health care initiative worker will be is discussing the roles and responsibilities of consumer agencies and challenges associated with communication of complex genetic information to the public and assessments of the services offered by various companies in direct to consumer marketing including the quality of information provided and confidentiality provisions. We are actually very pleased by the push that we have done and the response that has occurred. Regarding the issue of large population studies the committee's final report, policy issues associated with undertaking a new large U.S. cohort study of genes and [ indiscernible ] and disease which we need an acronym for was completed in March 2004. It was transmitted to Secretary. A downloadable PDF version is available on the website will be looking further into the status of the response to the report. In November I mentioned that there was an article on the Journal of Social Science and Medicine about the reports. We drafted a letter to the editor that clarifies the scope and goals of the report which you had an opportunity to review and comment on in the November meeting. That letter is now going, we understand, through the journals review process. A copy of the final letter is provided at your table folders. For more than two years we have been developing a report on the opportunities and challenges related to pharmacogenetics research, development of products and to their incorporation into clinical practice and public health. In March the draft report was released. These comments were carefully considered over the Summer and Fall. In November we finalize the recommendations and the file report will be delivered to the Secretary in March after copy editing and printing are complete. The report will be made available to the public 30 days after we give it to the Secretary which is provided, of course, as a courtesy to the secretary to give him and have its staff time to review it. Although the report has not been formally transmitted we do note that the American Health Information Health Community personalized health care worker is actually already reviewing our pharmacogenetics and recommendations in the area of electronic health records, clinical decision support tools, data sharing and database interoperable as it. As they begin to explore how this can be used. There is additional information on pharmacogenetics, family history, and newborn screening in your table folders. We have been monitoring the work of this group closer to our liaisons, Steve, Andrea, and Mark. Mark, is there anything specific you would like to mention about the work underway or its workgroup?
I think just to mention that it is moving very quickly. There is a lot of energy behind this, and the recommendations that have come through relating to the use case -- and they use cases are the things that the working groups to develop to basically a way out the landscape and allow the office of the National Coordinator of Health to be able to say, what do we have in terms of available standards, where the gaps are there that need to be filled with additional coding standards. That is moving very quickly, and our use case is going to -- is out for public comment for another two days. Then we will go into final form which will allow it then to move by the end of the year through the standards analysis. Those of you have read the entire report will recognize that there are references there. And it will be incumbent upon this group to work very closely with them and particularly the personalized healthcare or group because a lot of the problems and gaps we are defined are ones where potential solutions reside within that.
And of course everyone has read that report cover to cover.
I did. And I've read it about five times.
The work is absolutely transformative. And so I think everybody sort of really needs to continue to focus in on this as the committee move forward in the months and years to come. In June of '06 we decided to move forward with a study on the backs of genetic and licensing practices on patient access to genetic technologies. Since then we held a round table focusing on international perspectives. You will recall that we have been working with Dr. Bob Cook and his work at Duke on case studies on licenses to patient access, breast and colon cancer, congenital hearing loss, Alzheimer's disease, case [ indiscernible ]. These studies will illustrate lessons learned and diagnostic development, commercialization and adoption of patented versus on patented genetic tests. We expect these to be completed within the next few weeks. Once we receive them from Duke they broke be used in the development of a draft report and the recommendations on gene patents and licensing. Report development will occur during the Spring and Summer of '08. The taskforce anticipates releasing a draft report for public comment by the early fall with a final reports targeted for mid-late 2009. The chair of our patents taskforce recently presented an overview of our work on gene patents to another HHS Advisory Committee, that being called the Advisory Committee on Disorders and Genetic Diseases in Newborn and Childrens. If that committee is interested in this because many newborn screening tests are administered as panels. And intellectual property protection may limit access to these tests. Jim's presentation, as always, was well received and audience members are for advice on additional areas to move forward on. Some areas of mutual interest to our committee on disorders include informed consent, mechanisms to assess clinical utility evidence, and education of health-care workers and family. In March of '07 we were asked to respond to a series of questions posed by the Office of the Secretary on the adequacy of the oversight system for genetic testing. And extraordinary 33-member taskforce chaired by Andrea was formed to develop a report in response to the Secretary's charge. Through the dedicated effort of the oversight taskforce the draft report was released for public comment November 5th through December 21st. In response we received 64 sets of public comments that have been carefully reviewed and considered. A summary of these comments has been included under tab three in your briefing booklets. Most of our agenda today and part of tomorrow will focus on a review of the draft recommendations that have been revised in response to the comments received. Our first goal for this session -- lets me be very clear, is to finalize the recommendations for submission to the secretary by the end of February. Our second goal is to receive approval on the spirit of the final report said that it can go through final editing and be transported to the Secretary in April. Our commitment to the Secretary based upon the charge to us, his advisory committee is that we have to get this to him by April. I want to be real clear. We have been asked to do this work. We have responded as urgently as recant. We have been extremely diligent about the process, and we have to bring it in by April. And I also want to just make sure everybody also appreciates the amount of public comments that we have received. And I will tell you, the diligence with which we have gone to every stakeholder organization that we can find out there in the country to give us their comments. As we had just beaten the bush on this thing. So I just want you to understand how seriously we have taken this process. Finally, you will notice that when we start this discussion at today's meeting the public comment will be first, and that is to make sure that we get as much public comments before we start our deliberation. So there I am extremely focused on the meticulousness of the process here as we go forward. You may recall in March of '07 we decided to take up a new priority based upon two proposals. One, the economic consequences of to Numic innovation, and, second, the evaluation of a chain based applications on real world of genetics. We integrated these together into one topic that would explore what we call the turns this analysis of public health and clinical care and a viable economic model that could sustain the work. The task force was given the short and title of the evaluation taskforce. Because of potential overlap with the over such reports work on this new issue was put on hold. And so during the priority session in July you will have the opportunity to revisit this topic along with any other issues that you have identified or will identify. Finally, the cross-cutting issues of access to more public awareness and genetic exception have been integrated into all the work that we have been doing. So those have served as a foundational commonality of everything else that we have done. Well, that took a while. And quite frankly, I'm kind of proud that it took a while. This is one heck of a committee. I think that you all understand that you are not lazy. And this staff is definitely not lazy. So we have a legacy of work here. And I am also thinking, though, that it is absolutely time and appropriate to revisit where we are with this template. And I have a nice transition point for tomorrow not only do we have a new leader but so many wonderful new voices that is a nice time to take stock of what we have done and figure out where we need to be to continue to be relevant. So I'm excited. Now we will turned to Sarah about a reminder about ethics. Let me say that I often sometimes in addition to being a light-hearted about mangling names -- I actually can do this when I want to. I actually sometimes sort of joke about the theologic tone of what we want Sarah to do when it comes to the conflict. Today I will be very serious and somber. I am emphasizing to things in today's meeting. Number one is the absolute [ indiscernible ] of the public comments process and getting that input. And secondly as a meticulousness that we have always had and will continue to have around conflict of interest. So I think this is very important. At this point I will not tease her about this because I want to bring a certain [ indiscernible ] to her comments. Sarah.
Thank you. As you all know of you're special government employees, when you serve on this committee. As such you have to follow the rules that apply to regular government employees to reliable highlights to of those rules today. One rule is about conflict of interest. And because we are so close to the capital, the rule about lobbying. If before every meeting you provide us with information about your personal, professional and financial interests. If this is information we Jews to use to determine whether you have any conflicts to be objective. While we wait conflicts of interest for general matters because we believe your ability to be objective will not be affected by your interest in such matters, we also rely on you to be attentive during our meetings to the possibility that an issue could arise that could affect or could appear to affect your interest. In addition we have provided each of you with a list of your financial interests and processes that could become a conflict if they became a focal point. If this happens we ask you to recuse yourself from the discussions and leave the room. Government employees are prohibited from lobbying, and thus we may not lobby, not as individuals or as a committee. If you lobby in your professional capacity or as a private citizen is important that you keep that separate from this committee. Keep in mind that we are an advisory to the Secretary of Health and Human Services and don't advise Congress. As always I thank you for being so attentive to the rules of conduct. Thank you.
Thank you very much, Sarah. Again, the hallmark word of everything that this committee has been about and will continue to be about is transparency. If this is all extremely transparent, and we are actually going to keep to that. All right. Now, I had a schedule. I'm warning our public comments people that -- if there is anybody who thought you were on at 9:15, you are on now. It simply ran out of the room, come back. If one of our critical functions is to serve as a public forum raised by the development and use of genetic technologies. So we greatly value the input we received from the public. We set aside time each day of our meeting to hear from members and welcome and appreciate the views they share. And the interest of our special we asked but the commentors to keep remarks to five minutes. We have copies of your [ indiscernible ] segments which will be made it part of the record. As a few moments we but address the oversight recommendations. Prior to this meeting we request that those who have reference so that we can keep these in mind during our discussion. Some of our commentators unfortunately were not available today and will be speaking to us tomorrow, but we are all really pleased that we have several folks who have made it their business to travel here today to give us their input. So we are very pleased. It lets me invites to the microphone Paul Rodzinski from the Coalition for 21st Century Medicine. As Paul comes up maybe we can also, just so we don't have a loss in terms of travel time, if Jeff from the College of Merchant Pathologists is here, come on up as well. And we will start to shuttle people in. Thank you very much. Paul, we appreciate you being here and please give us your comments.
Good morning. Thank you. Can you all hear me okay? My name is Paul Rodzinski. We serve as counsel to the Coalition for 21st Century Medicine, as well as counsel to a number of the territories that are members of the coalition. The coalition was formed a little over a year ago in response to a two draft guidances. On the [ indiscernible ] in vitro diagnostics and the other for an allied specific reagents of a document. And the coalition formed including both laboratories and that area as well as manufacturers of a specific reagents to address concerns that both groups had with the contents of those two draft guidances. But the purpose of the coalition was not to say, this doesn't work or nothing works, you have to stop. The purpose was to develop workable solutions that would support public health concerns about appropriate oversight for these technologies as well as provide incentives to continue developing in this area. We submitted fairly substantial, detailed comments to the record in response to the draft a research report that came out in November, and those comments were submitted in late December. And I won't repeat the 15 pages. We tried to be constructive and respond specifically to every recommendation, particularly in these chapters dealing with clinical solidity and utility and decision support systems. What I want to focus on is something that we appended to our comments which was a proposal in response to the draft guidance that we submitted to the FDA has on that tightens and I want to explain it fell a bit about that proposal very high-level what our objectives were and why we believe that is useful for the committee to consider that on its from reports to the secretary. We identified in the draft guidance and both the September 2006 and July 2007 a number of concerns that stakeholders had as well as those that were submitted by others and the March deadline and then the August-October deadline. We were also very aware and had a number of discussion with folks at the FDA about their concerns. And that the concerns or transparency, a concern about advanced diagnostics, having equations, interpretation functions that were passed diagnostics that the folks wanted to understand better and viewed as some level as a black box. There was also the concern of the fox guarding the hen house. If you have the laboratory thing this is what our tests do. Is there some independent review work? Is FDA the right way to address that? Third, was a risk based regulation. Looking at a framework also we are looking for clear definition. There is a concern that recently the definitions and both draft were inherently subjective looking at what physicians could interpret, what are standard functions, and things of which lead to confusion by the [ indiscernible ] community. Looking for clear and predictable pathways. What will be required, what does this I need to look like in order to get various types of claims for these assays, a transition time mind because we are talking about laboratories that have been regulated by CLIA and not medical device manufacturers. If they assume those new rules it will take time for them to adapt. And lastly needing to have continued incentives toward innovation. The diagnostic life cycle is short, and if you require substantial amounts of data and substantial timeline for follow-up, by the time you finish the studies you will have new diagnostics already in place and the ones you studied will no longer be relevant. So with those principles in mind we came up with a proposal. With representatives, rather than responding to what you saw come up with a proposal about what you think would be the right approach. So we came up with a two-phased approach saying at the beginning, we don't know the number of tests we are talking about. We heard some say it is just a few and have heard others were we were able to identify a couple hundred. We don't know. We don't know what the intended use claims are. We don't know what the current state is in terms of the science to look at these. So our view is that in Phase I very much the draft report's proposed as others by the Senate and Public Policy Center, Senator Kennedy's bill have all proposed a registry to try and get information about, what are we talking about, how many tests, what does it look like. Based upon that our proposal is that that's registry would be publicly available to provide transparency and would have a role for FDA to review and comment on those claims. So we have the truthfulness and an independent review of the validity of the data to support the claims. From that period over a few years we are proposing 3-5 because it takes at least three years to get the data. If you want three years worth of data it will take five years. From that and experience based and evidence based free-market could evolve that would be one that over time to have an appropriate risk-based framework. And we encourage the advisory committee to look carefully at the proposal and to consider that. We believe is the best way to gain evidence for what appropriate cover such it should be rather than to simply [ indiscernible ].
You have made that point very well and we appreciate it. Is there any need for clarification? He has been pretty ridiculous. I think we have a good sense of what your recommendation as for is pathologist comes up and I asked David from the American Chemical Lab Association to come forward as well. Jeffrey, thank you for joining us.
Good morning. I am Professor for Pathology and Human Genetics and Director of Record Genetics at the University of Pittsburgh. I am here today on behalf of the College of American p athologists. I chair a Resources Committee that oversees programs in genetics. We are following up on written testimony the college has provided on his report on the U.S. system of setting testing, a response to the secretary's charge. I modified my remarks slightly and amidst the summary statement thinking to the time limits. At the national specialty society representing more than 17,000 pathologists. The commission of laboratory accreditation that accredits more than 6,000 laboratories here and abroad. Our members have extensive expertise providing interesting laboratory services and participate as peer inspectors in the laboratory accreditation program. The program has been a leader in developing quality improvement programs and genetics programs in testing. We have some of the strong as measures of quality. The overwhelming majority of mainstream genetic tests performed in the U. S are safe and effective. As noted in the report pop performance on multiple genetic surveys for analytic and interpretive accuracy has been excellent over a wide range of methodologies. Of note the performance of a laboratory tests on our proficiency is equivalence to assays that are FDA-approved for the same analyze. This is due in part to the nature along with a rigorous attention to quality standards and practices, along with oversight of every clinical laboratory by a physician. The accreditation program stresses of analytic and clinical [ indiscernible ]. Recognizing that tests will continue to be periodically improved after introduction with each improvement rebounded by the numbers are. As medical specialists the development and oversights of oversized cost is an important and outstanding aspect of medical practice. We therefore have a keen interest in ensuring that our ability to provide high-quality diagnostics services to patients and other physicians is not compromised by overly burdensome legislation. And we recommend that changes be made within the context. We support further enhancement of laboratory testing through educational efforts, and prevent and the quality of inspections and additional access to controls and standards. We agree that appropriate resources be directed to CMS for record of oversight and support recommendation for an expansion of sufficiency testing. Please consider that to be already require assessment of analytic validity regardless of whether these tests are in this tunnel. We are part of no evidence otherwise. Moreover we require clinical tests and stipulates responsibilities. Requiring approval for every laboratory developed test with result in numerous unintended consequences that would not benefit to patients to include delayed implementation of new tests, reduce innovation, increased cost and regimentation of access to beneficial information. Given the high quality testing is already in place different regulatory requirements for this group does not seem necessary and since not all laboratory developed tests are genetic it is difficult to implement. Finally we support the draft support on public / private partnerships for genetic tests and feel that registration of genetic tests through such partnerships could have a positive impact. Such a system should be voluntary and devised with broad [ indiscernible ]. CLIA already requires tests by laboratories. But additional information should remain within the context. New mechanisms for the collection of information should be tested before implementation to ensure the most useful information has been captured and that submission is not overly burdensome for a laboratory. If this information could then be made publicly available assuring clinicians and patients of the analytic and clinical validity of tests are not competing the medical practice of policy.
Thank you very much. Is there any inquiry on his comments? Yes?
Did I hear you say that CLIA requires evidence of clinical utility?
We interpret the requirements for the medical director oversight of the laboratory in well-run laboratories to incorporate that. Certainly that is part of our accreditation inspection process.
Thank you very much. We appreciate that. One more question.
Jeff, thank you so much. You mentioned in your letter that the FDA will have review of all the laboratory testing. I would like you to further elaborate what the impact of having to follow the regulations systems or additional inspections by the FDA on top of what we currently have to go through.
I think it would be primarily in the additional time required to generate the supporting documentation and to host the inspections. Many laboratories, as you well know, a great deal of that work is done by the laboratory director themselves. And that is clearly the last time you have to focus on developing and interpreting tests.
Thank you again. Let's ask as David comes forward from the American Clinical Laboratory Association, Suzanne from the American Academy of Nursing.
Thank you. I have had the pleasure of presenting comments to the committee more than once. I have always felt welcome, and I know the members have always felt that the comments have been well received and given full consideration. We recognize to a large degree that is because of the leadership of Dr. Tukson. We thank you for your tenure and appreciate the fact that you have made us feel welcome. Now the comments. As the community discusses the final recommendations we want you to focus your attention on one particularly important recommendation that if not carefully communicated to the Secretary to have unintended consequences. Namely the recommendation in Chapter four, recommendations four which [ indiscernible ] preferences the debate about the FDA role in regulating laboratories developed tests. That is currently written that this supports regulation in the flexible risk-based approach the agency is taking to prioritize laboratory developed test that should be robust enough to accommodate new genetic testing technologies and methodologies. We applaud and recognize the need for a flexible risk-based approach to genetic tests and the important role of laboratory developed tests to keep pace. However, if the above recommendation is interpreted to mean that FDA Food, Drug, and Cosmetic Act requirements should be applied to the leverage our develop test without interagency coordination, needless redundancies and duplications of results. Let me be more specific. Although there are many similarities between the quality validation procedures there are clear redundancies and duplications that if not coordinated, harmonized and streamlined will spike [ indiscernible ] in this area which includes separate inspections, labor requirements, additional requirements for design control, corrective action, and prevention. That's not to say that FDA does not have an extremely important role or that any of these are not important. But it is to support the regulation of LTD without recognizing the important first step of interagency coordination and requirements harmonization. Further the recommendation as written is inconsistent with the rest of the reports over arching guidance to HHS to -- and according from the draft report to enhance interagency coordination so that the agencies with regulatory roles, CMS and FDA are working synergistic with one another and other regulatory agencies and with knowledge generations businesses. We agree that it is fundamental to ensure that oversight is less burdensome, it does not place unnecessary or duplicative regulation of clinical laboratories providing genetic test services. We have proposed regulatory that build on that this answer is a [ indiscernible ], are consistent with the principles of burden, fill the regulatory gaps, and allow for a participatory approach that draws on the expertise of expertise stakeholders. CMS and FDA by invoking private partnerships they avoid significant new problems. I have provided a graphic representation of the models. We do believe we have filled the gaps, and it does in the least burdensome ways and is mindful of resources and allows for full transparency and builds on interagency coordination. We ask that you take another local and revise it. I would like you to consider. The recommendation would read adding the word answer is as he wrote for FDA and adding the word CMS. The rest of the [ indiscernible ] would stand. I appreciate the time.
Thank you very much. I really like the specificity of the comments. You are not playing around. Thank you so much, David. As Suzanne comes forward, I would to ask Peter vary from the Public Citizen's Health Research Group if he might come forward. Suzanne is an from the American Tennessee Academy of nursing.
Thank you. Thank you for the agenda to speak with you. You have a written statement that has more information than I represent. The American Academy of Nursing and the Genetic Health Care Expert Panel appreciate this opportunity to comment on the draft report, and we commend your comprehensive work and recognize that this is still a report in progress. The American Academy of Nursing comprises more than 1500 nursing leaders and is constituted to anticipate national and international transit health care and address resulting issues of health care policy. The genetics and genomics is obviously one of the significance trends impacting health care and all health-care professionals. The integration and clinical is unprecedented and the implications for health care. We want to recognize the benefits of this burgeoning technology is dependent on establishing the analytical and clinical validity of every test. And we provide the following consideration. The academy is concerned about the decision of the CMS not to create a genetic testing specialty and associated proficiency testing reversal and a previous position. We strongly support a genetic specialty and associated proficiency testing for all laboratories performed genetic tests. We encourage you strongly recommend that CMS take action to establish a minimum degree of quality required of any laboratory performing genetic tests and that further study on the issue of performance assessment should be executed while instituting genetic specific proficiency testing. The Academy commends the Committee for recognizing the need for interagency coordination and the oversight and regulation of the laboratory developed tests and strongly supports the need to convene their relevant agencies to make recommendations on further regulation of genetic tests. And an effort that should not delay instituting the genetic specific purposes the testing. We concur with your recognition that there are deficiencies in the genetic and genomic knowledge of all health-care professionals. We are concerned that the committee has not recommended that the HHS allocates assets to address this. In today's fiscal climate education efforts will be extremely hampered by the lack of funding to develop and implement innovative educating strategies and we will propose a different strategy. We recommend an adjustment to focus on the system and practice change. There is to be a shift from the traditional education approaches and schools and CE to one supporting the embedding of cinema knowledge into practice. Evidence of this being imbedded into practice should be a component of every patient records and hospital and the institute accreditation. For example, education could include the family history and patient family education materials. A successful model of this recommendation is the interdisciplinary program for Genetics Center practice at the Mayo Clinic in Rochester. When there is evidence of the application and practice our [ indiscernible ] will be influenced to include the expectation of the smallest for all health-care providers and licensing and accreditation. To facilitate the shift we may want to invite the representatives of accrediting bodies such as the Joint Commission and Health Facilities Accreditation Program to a meeting of the committee to demonstrate the significance of the application of this knowledge to practice. The Committee's recommendation on communication and clinical support will not be realized without the key foundation of an adequate base. We know that the number of health-care providers with genetic expertise is not sufficient or adequately prepared to support both genetic tests practices and the absence of a clinically competent practitioners. Many clinically available tests are supported by practitioners and one example is [ indiscernible ], a multiple gene asset performed on early stage breast cancer tumors where standards of practice for utilization support line in the domain of the [ indiscernible ] specialist. This is just one that illustrates this application the practice beyond the genetic expert. So this supports the need for the education of all health-care professionals. In summary, to reach the potential benefit to public health for all genetic testing it must be adequately regulated to ensure quality and health care providers must be prepared to incorporate these tests into there practice. The academy is poised to engage our fellows, other key stakeholders to develop and interdisciplinary initiative to increase the competency of health-care professionals and genetics and genomics as well as develop practices and standards that assure the highest level of health care to all. I will be happy to respond to any questions.
Thank you so much. I just want to make note that given not only the relevance of your comments for this report we are about to chat about, but also on the taskforce for training and education. So Barbara who is not with us today because of a pressing emergency -- but Joe, you are on the committee. If you make sure that those comments are delivered into that other process I would much appreciate it. Because there is another mechanism for dealing with it, and you have been pretty explicit. We will make sure that this gets into that committee. Mark?
I wanted to speak specifically to that point, also being on that education task force. I will take your comments to heart there. Recognize that we focus on the oversight report here. I just want to get your sign-off, if you will, that if your sense is that are devoting an entire task force to this as additional issue is sufficient size that we could leave the educational requirement alone. Otherwise I think we are trying to make this report all things to all people, and I don't see that that ultimately will serve our best interests. I would like to get your perspective if that is an appropriate way to proceed rather than trying to modify the recommendation as it currently stands.
We recognize that, and part of it is obviously if the interdependence of all of these recommendations and that the knowledge must go and is inherent on genetic testing and the reliability and validity.
In our revised recommendation for the report if we specifically articulates the fact that there is a taskforce devoted to education. So we are attempting to do that.
Thank you so much. Very well done. As Peter Larry comes forward from Public Citizen's Health Research Group, let me invite Marc Sobel from the Association of Pathology Chairs to come forward.
Good morning. My conflict of interest statement is that we take no money from either government or industry. I want to talk from the patient perspective and make clear that from the patient's perspective there is no distinction whatsoever between a genetic test or any other kind of laboratory tests. They don't understand the regulatory framework behind a genetic test, a laboratory developed test. They just get a blood test or cheek swap, and they assume that the amount of regulatory oversight that is associated with those tests article. The fact is that we have a genetic exceptionalism taking place whereby the vast majority of genetic test is barely regulated. Whereas the vast majority of other tests fall under the FDA. Very few patients if any understand that. I think that we owe patients an amount of equality and of comprehensiveness and oversize. The report itself seems to reach a similar conclusion. Genetic tests and laboratories performing them should be expected to meet the same high standards of accuracy, validity, and utilities to which other medical information is subject and that is decidedly not the case here. And I don't think that the task force current recommendations will do much rectify the situation. If the force of consumers has not really come before this task force to is significant degree despite what Dr. Tukson's describes as their efforts to reach them. All members of the taskforce come from government industry and the vast majority of comments submitted to the record, only two of those come from consumer advocacy groups. It is notable that groups with financial interest, disagreed. As we go through three of those. The first is with respect to CLIA. It throughout this report the taskforce as an excellent job of diagnosing what ails the system. It concludes the validity of genetic testing -- assuring the analytical validity is paramount, and it goes on to identify a litany of problems to the current situation. However despite their rigorous documentation of the centrality and the limits of current CMS oversight the draft report supplies no rationale for failing to endorse a genetic specialty. And as the report itself acknowledges this is contrary to congressional intent which is to generally require PT for all laboratories for all clinical tests, no exceptions. So we would like to see a much stronger endorsement of PT. And if it takes to the specialty this taskforce should be endorsing just that. With respect to FDA the problem is similar. A re-endorsement of the importance of political validity of genetic testing. Despite the well-documented reasons for expanding regulations and the problems with current oversight the draft report simply endorses status quo. It seems to endorse the efforts with regards to the [ indiscernible ] and is important. It is really a baby step in terms of reaching literally 1200 or more genetic tests that are currently available. Evidence justification for failure to endorse these genetic testing specialty, it provides only the most maker of explanations for its failure to have vigorous oversight. It talks about a backlog which you do come to have after ignoring two prior reports from committees rather similar to these dating back a decade. If you don't have one of those recommendations which recommended [ indiscernible ]. There is a good example of the ability to clear a backlog. We reviewed thousands of drugs and those were in effect taken off the market. So we have an ability to do such a thing. If there is a problem with lack of resources in this committee is in a better place than any to recommend an increase in resources rather than surrender to the problem. You should be advocating for that. It is important enough. And finally a concern that new technologies will be delayed. We often hear those kinds of concerns, but no one really provides any data. What about the dangers of allowing unregulated products on the market? What about people don't undergo a particular course of therapy? That must be considered part of the calculus as well. The third main elements in the report has to do with the registry. As the report acknowledges nobody knows the number and the number currently available genetic tests which is an unacceptable situation. Fleet recommendation is a voluntary registry. We already have a voluntary system and have had it for 14 years. It's called gene tests. And the deficiencies we currently have are deficiencies and the voluntary system. So how can it be logical that the recommendation be more of the same? Indeed that is the overall problem. It does an excellent job of identifying the problems. It lays them out clearly, but when it comes to following its own recommendations to a logical conclusion that falls short and simply endorses the status quo. Thank you.
Thank you very much. I appreciate your comments and you can't be sure people wrestle with each of those as we go forward in a very meticulous way. Does anybody have any questions to ask at this point?
Yes, thank you very much for your comment. I have a question in regard to something that is always a challenge, particularly with this kind of effort. One of the clear challenges that you have had -- and viable make it a challenge, the point about the actual diversity of the comments themselves and where they came from. The challenge is always giving input. And I know that every effort is made to do that. Maybe as a comment, what would you have suggested have been done to get more of the type that you think should have had comments knowing that a lot of effort was put in?
Let me just as an aside point out our comments are part of the record. As you point out there is diversity. There is some. The majority of people take a position in favor of genetic testing and most take a position in favor of some FDA regulation. I did hear about this report and that it was available for comment through somebody else on the task force. Nobody approached or suggested that we my testified before this committee despite the fact we had filed a petition with CMS. If any consumer group was in place to be invited, it was us and I only heard about incorrectly. There are a number of consumer groups in this town who may be interested. I can't beat so certain that I can, but I am not aware. Somebody might be able to contradict me, but whatever efforts for a mate, they did not reach me.
Actually, that was not my question. My question was a recommendation to the committee. This is only one of many reports that people be working on. If this continues to be a challenge it is, what is your recommendation on how the committee in its future efforts can begin to engage a broad base of consumer groups and organizations that you point out were not engaged, including yourself? That was my question.
I see. I have answered that in the sense that I pointed to deficiencies, but it is difficult. New news groups like the genetic alliance which have members in a large number of different organizations. Answer asking them to put the board of further. Certainly there are federal registered nurses, but nobody reads that. So I think you start with the key informant and hope that you can guess the word out. Courts are want to move this forward. I appreciate the specificity of your comments. They are very helpful to our process. I will say that the Genetic Alliance and every other major consumer organization in genetics is well aware and has been here testifying for years. It would, I think, be a matter of debate -- and I don't really have time to go through it all. There is an extraordinary legacy of involvement by this committee. And it is extremely well-known throughout that genetic consumer and professional community. This committee is no secret. Its work is well-known. We have solicited the extraordinary efforts to make sure that we -- you were told about it. You are here. So I say to you that I think what we want to take from your comments -- and I think Joe did a terrific job and making sure that we can always do it better. We both endeavor to make sure that we continue to try to do better, but I must suggest for the record that this committee's involvement with the genetic consumer community is extensive, long, and broad and that time would not want to have the record not have that comments written into it. However, I think that your comments are very helpful and we benefit from them and your presence here. Next. Marc Sobel, and then I am hoping Linda is on the telephone from 23rd. So do we have the ability to know if she is on the phone?
Can you hear me?
You are next.
Thank you.
I have a wonderful list. You are next. With that, Marc Sobel is now here from the Association of Pathology Chairs.
Good morning. I'm the managing officer of the Association of Pathology Chairs. It represents the Office of Pathology and Laboratory Medicine in all of the accredited medical schools in the United States and Canada. We submit a comprehensive statement in December and appreciate the opportunity to highlight the three most significant points in public testimony today. Those three points are that definition of genetic testing, determining under whose authority quality assurance is best managed, and identifying the best system for test registries. As for the definition of a genetic test, we see that we are using a very broad definition going beyond changes to include somatic variations and going beyond DNA and RNA to include proteins and other analites. Under this definition the test but more accurately because [ indiscernible ]. I believe that the document is to decide which [ indiscernible ] and also the difference between genetic and genomic application. So given the anticipated perhaps out there they should not be considered a significantly different tests, and we agree with this perspective which is consistent with the approach taken to not established the genetic such specialty. But if the community opted against it then it is unclear why genetic tests are proposed to require greater oversight then on genetic tests that are some of the molecular, lab developed, complex, and potentially high risk. We recognize the test for inheritable diseases are unique in several aspects. Nonetheless, at the technical level the diagnosis of genetic disease by molecular methods does not differ significantly from the same techniques that are used to diagnose infectious diseases. Therefore is not logical to establish more stringent technical and personal standards for molecular genetic testing than already exists including m olecular biology and molecular microbiology. These risks are present in all areas of health care, and we must support to minimize those. We are not aware of data that demonstrates that harm from genetic testing is greater or less than from other medical procedures performed. As to quality assurance and CLIA versus FDA, I think in the interest of time my colleague at the American Pathologists adequately express the opinion of APC that further regulation would be inappropriate given the oversights. It could be duplicative and could incorrectly have unforeseen consequences such as delaying innovation and the appropriate amount of time used to develop new tests. And finally on the system for test registration we heartedly endorse the endorsement of a private-public partnerships. We cannot necessarily retrieve the information, and the public does not necessarily have access to it. By making the information voluntarily registered more publicly available, we feel that the public will benefit and there will be no need to establish a new registry system. Thank you.
Thank you very much. Boy, this is going to be fun. So no matter what we do everybody is going to be upset with us. We will not have a friend in the world when this is over. That was extremely clear, and you were clear. I just wish you could all find some place where everybody worked agree. We are going to get yelled at everywhere. Questions?
I have a question. Using consumers that provide information available at there fingerprints as to the analytical and clinical validity in clinical utility of existing tests on genetic market and where that would come from. Personnel, I do not believe they have that rarely available. There are various sources of that information for the public. There are two websites. One is in the relationship to inheritable diseases, a test for those website called gene tests which is run out of the University of Washington which provides information not only about the background, but it has links to the laboratories which provide those tests. Understanding the unique areas of clinical analytic utility and clinical utility is difficult to access for most people. The other website that type would tell you about is the Association for Molecular Pathology Molecular Test Directory which is called [ indiscernible ] which is a listing of tests, but does not provide background information on those tests. Herein lies the distinction because the upside is not heritable. They are what I would call the somatic tests. They are infectious disease tests and test for disorders of the systems such as leukemias. There are tests related to neoplasia. Those have listings of tests and do not provide information. Here again it is really the purview of the practice of the laboratory practitioner. These are practicing physicians. I think there is a lack of understanding of the testing, certification of the laboratory directors for all laboratory tests that require an understanding and an expertise. And that is what we are trained in, to actually understand quality control, quality assurance as well as the test validity, analytical validity and clinical utility of the tests ordered.
So how do you respond to Peter Larry's comment? He is basically saying that we are being exceptional by being a more rigorous in our oversight. You are saying we are being exceptional by being overly oversightfull.
I guess my major point would be that in my opinion every single test that is performed whether it is a glucose test, my time for whether are getting the right level of Coumadin or whether it is for a cancer test that is done by the caucus system previously mentioned or for an inheritable disease condition, they all require absolute 100% accuracy in order for the public to be safe. My colleagues and pathology once noticed in the days of the multimillion-dollar contracts for baseball players that you get it batting average of 333, and you get $15 billion. As a pathologist misses one out of 1 million tests if they are wrong, their careers is over.
You're doing wonderful, but other than professional -- the question comes down to is how does the public knows that is happening? Other than the tort system why is it that the public doesn't deserve greater --
I think the public does deserve better knowledge. They need to be better educated. They need to have access to more information such as in the registry that is suggested by the report. I think that is all part of better knowledge, but this really does require expertise. Somebody needs to have the expertise to say this is clinically valid and that is what peer review systems are about and test validation. This is a daily practice of the pathologist.
I got it. At the end of the day, you are really helpful. And we have to go on. You have made your point. Because of everything you just said -- and this is the criticism that we must deal with --
This conference contains less than three participants at this time.
Of the three that are there, they are extremely important. We are okay that it is less than three. We love the ones we have. In terms of -- so that the dilemma you just presented us with is this, you just gave us compelling reason why people want us to take greater action. You said this is complicated. The whole thing is complicated. Is a real problem. People cannot possibly figure out -- let me go research -- people are just trying to live their lives and assume that the tests are fine. You just give a compelling reason why, other than this phenomenal trust -- that is all you are saying we should do.
Because systems are in place to justify that trust. We have proficiency tests. We have quality-control tests. We have inspections. The inspections very often go beyond what the regulations require. For example, there was a question about whether CLIA required clinical utility, but actually the inspections that inspect all the laboratories or most of these laboratories in United States require in their criteria for passing that inspection. So that is why having been involved in that process and seen the product because I also heard -- you think you are in trouble, you should hear what we get for our rigid we are and how unreasonable we are about what qualifications we are requiring. So that is why I have trust in the system.
Well, thank you so much, and one of the reasons I have been querying you is because you are very articulate.
I appreciate it.
I wasn't being --
I did not feel that way.
Linda, did they allow you to stay? Linda? Did you allow Linda to stay? Big brother? Linda? That is mean.
Hello?
You are there.
I thought I got cut off the call.
We can't let them.
If you did not know it you are with 23 and Me.
You have five minutes and we are here to hear you.
Great. Thank you for the opportunity to address the council. Twenty-three and Me was founded on the premise that individuals have the right to access their information and learn about themselves and a new way. We believe that they have the right to know what their bodies are made of. And that they should not have to pay for those services from a health-care professional to find out those facts. History shows that fears about how consumers will respond to information is usually overblown and inaccurate. People were able to handle being told that they had cancer in the 60's, pregnant in the 70's, HIV in the 80's, and that they may have had an increased probability of Alzheimer's in this decade as revealed studies have shown. Federal and State government as well as physicians should not impede Information Development and what ordinary people can or cannot understand or handle. We don't plan to stop that providing information to individuals about themselves. We are developing and wait for them to engage actively with new research effort, something we call consumer enabled research. We think that progress and genetic research will be greatly enhanced by the development of a large database of genetic and phenetic information contributed to it voluntarily by individuals interested in getting directly involved. I'm sorry, can you guys hear me? I am cutting out.
We hear you very well.
Yes. We do.
I would like to comment on the conversation prior to this. This is about giving people access to information that would help us understand more about these human genome. So rather than talking about diagnostic tests we want to talk about genome's and transfer that information. This is not about genetic testing and may not be the appropriate time to be debating this because it really is not about performing a test. It is more about having this information flow back and forth and as people are able to give more information about themselves we hope to gather that together, share that back with the research community, and make it a benefit. So we are talking here to about whether CLIA is applicable or FDA is applicable. We are here to say we don't have enough information and this is about a research effort. And that is what 23 and Me is going to be focusing on. I'm happy to take any questions that anyone might have.
By the way, would you remind me of what 23 and Me is. I should know it, but I don't.
It is a private-based company here in California. We are enabling people to have access to their genetic information through the use of research tools being used by laboratories across the country and across the world. We use large-scale genotyping microarrays to give people this information and [ indiscernible ] to give people an idea of what is coming out so that they have a better understanding of what these studies are turning up. You will see stories about these reports. So our mission is to give people the opportunity to learn more about what this means. We don't say that this is a diagnostic test. It is more of their way to get that information.
We have a couple of quick hands and quick questions and answers. Paul?
This is Paul billings. Do you have -- we have been hearing this morning about how consumers can judge the quality of the testing that they are provided. Does 23 and Me have a position on that issue?
It is a really good question. What we are grappling with right now is finding the right way to provide that QC. We really don't feel like CLIA is the appropriate vehicle to do that. If anything we feel like [ indiscernible ] in a wrapper of 23 and me disingenuous giving them the impression that the information is currently validated. We are providing this as an educational effort and therefore to say that this has wrapping on its gives the wrong message. With that said, we are doing everything we can to comply with CMS and feel like this is an opportunity to have a discussion with them beyond CLIA. It just sends the wrong message.
Real quick we have to Joe, Jim, and [ indiscernible ].
I will pass on my question because it is a little bit harder to answer.
For those individuals and the room who are not familiar with the offering, I was wondering if you could give any general position on what type of associations that you are providing? For example, there will be an offering soon of a company specifically designed to look at medically oriented associations. Do you have a particular overarching philosophy? Do you want to give any specific examples of the types of associations that you report to the audience here?
Absolutely. One of the components of our websites is something called Team Journal. Our scientists go through before we are willing to report on any particular finding, and they are mostly focusing on common diseases. We aren't really focusing on disorders because they are well documented and have been identified and studies, and there are genetic tests that exist for those. So with type two diabetes there are about seven genes that have been solidly established as being associated with the disorder. So we report on those and explain to people what the different versions are and give them references if they are interested. But we also break it down into everyday terms of what this means for an individual without a genetics background.
This is fascinating. Wayne, a quick question.
I am from the Center for Disease Control and Prevention. I had a call in January about the premature research tools being offered to the general public. So I appreciate your comments and the fact that you are trying to educate consumers rather than sending them a genetic test. But if these were genetic tests to be offered for preventional disease or health promotion they would not pass the test of even analytic validity and clinic utility. So as long as you appreciate that point, but it seems like you are making a distinction between an educational tool versus a tool that could be offered for health purposes. So I wanted to hear a little bit more of your perspective on this given that these are research tools and what to do you expect consumers to do with the information that is probably incomplete and changing as we speak?
That is a very good point. When we read the article in January report in very much in agreement with this. That a lot of this our mission is to continue to collect information. This has only been done in certain populations. If somebody is of a South Asian ancestry there might be a publication that came out, but it only applies to Caucasians. So the research is very limited. We hope to empower people to come back and tell us about themselves. So if somebody sees something about type two diabetes we can say, if you are Caucasian, report back to us whether or not you have it and we will continue this research together in a very prospective way. So we look at the model, and we want to do is move that concept of a prospective long-term studies where people can share that information directly.
Thank you. If you have anywhere near you your cellphone or Blackberry is on, it is receiving messages. In July and we have the benefit of having a session, a special session where people learn about companies like this, and we will have a chance to revisit it. I'm going to make sure and being the moderator i'm aware of time. I've got to make sure all issues are covered. Are you only providing information? Is it articles or information? What I think I am hearing you say is because you make no [ indiscernible ] about whether something has received this scrutiny that you just provide it with information. Therefore by definition it does not require any oversight. It so it is like, I make no pretense as to what this information is. Have at it. And how you choose to deal with it is up to your own intelligence as an individual thereby avoiding any oversight whatsoever. Is that what I'm hearing you say?
No, I would say that we welcome oversite, and that we are very eager to hear back from both the medical and research communities about what it is we are doing. Because we do want to educate people about how their genetics are impacted by the studies coming out with the caveat that it is all subject to change. We don't even know if cholesterol tests are as valid as we thought. So the public is pretty used to getting information and understanding it has a certain level. As long as we present is properly and that this information will be changing and it is more about them feeling like they're part of the process. Right now when you talk to most people they don't feel like they have a voice in where research is headed. And the autism community is a good example of that. We want people to feel they are more part of the process. It was so clear that people in training him have a sense of ownership of that process. The group wants to move that to the web in a social networking way so that people have that same feeling.
There are a couple of other answer. I think you have actually opened up an incredibly important issue here. I am going to take a little liberty and get two more questions and because I think that you have put something on the table that, quite frankly, has gotten my full attention.
Linda, I was just curious. You say that the main goal is for research purposes, and I was wondering when you provide the report back to the individual that requested the test, are you stating that this result is for researchers only.
Well, we do have said in a way to say that this is initial information. Our scientists have read these papers, and if they don't meet the criteria we established -- and those are up on our website. We explained that there are other studies out there. And because our initial response is that they want more information, and they are just hungry to know more. So we are going to have a way to sort of back up the research that is coming out and report things to people. You have to take this with many grains of salt, and people have more of a [ indiscernible ], but people seem eager and wanted to get this data in front of them.
We have to close off on this after one more.
Thank you for your comment. I think if groups like yourself have a chance to speak again it would be very helpful, to me, and very instructive when you get a chance to present again if you could map out a case to show how you carry out what you do with the information. Because right now -- I'm not sure. I just speak for myself, but there are a number of integration. You talk about the case and the process and how you think it should go. It is hard to follow so if I could make a recommendation that the next time you have a chance and present a case just walk us through how useful, what kind of questions you get, how the information itself is useful, and how you disseminate that information. I think that would be a very helpful. It sounds like what you do is a good thing. It is just hard to decipher because there is a lot there you are speaking about.
Absolutely. If we would be happy to come and give a demo. The most powerful thing we can do is to show you exactly what the customer's receive.
Any information you have, send it to the committee. Thank you for coming by phone and answer questions. Michael Watson will come up and then if Emma -- of course, you will teach me -- I did good? This is the first time.
Thank you very much for allowing me to make brief comments here today. I represent the American College of Medical Genetics, an organization on like many of the laboratory organizations that bridges both laboratory testing and clinicians who deliver genetic tests to the population. For the most part I'm going to focus on the heart of [ indiscernible ] side. I cochaired the task force on genetic testing back in 1995. I am not certain we have made tremendous amounts of progress. This is Reed's last meeting and I'm hoping he doesn't get that same funny feeling in 10 years.
It was the foundation he established that got us here.
I did not do it to spawn advisory committees. I was hoping we would make more progress than we have. There are some concrete things I think we can do, and we must look carefully at why the progress that we have hoped for has not been made there are fundamental aspects of genetic testing that get at why we have not been able to make some of the progress we hoped to have made. Genetic testing is actually highly complex. It is enormously diverse. So not any one group is really well placed to deal with it all. And there are a huge number of tests. We have recently have the entire gene test library transferred to us in the interest of project we are working on to develop a full assessment -- actually, an analysis to see what it would take to lay down the clinical validity of every genetic tests currently inching tests. People often talk about there being 1,000 or so genetic tests available. If that is so far off the mark it is sending. There are maybe 1,000 genes that we do tests on and that is a very much the way it is designed, around the genes on which we focus. We do 1,000 genes worth of testing, but from a clinical validity it is why we do tests. Every single one can be broken down to a much larger number. We've may do directed mutation testing or sequencing that does different calculation for clinical validity. That is one of the problem started end of the 4-5,000 tests we have calculated as being present the vast majority are for rare diseases. That is another problem that has been difficult for us to get a handle on. There is no incentive to invest in the development of those tests. It is left to the laboratories to develop them themselves if they want them to be accessible to the patient population, and that has made it difficult because laboratories in general are not in a strong position nor well enough resource to lay out the guidelines in a general level. The state to its specific to the tests they offer, and there is [ indiscernible ] around those tests. There is also a variation between different populations. It makes it much more complex than in many areas of genetic testing, like infectious disease. It does not suffer from huge variations among one populations of Asians versus Caucasians which leads to us being in a very clinical practice of medicine position of interpreting what these variations actually demand which is very difficult from a regulatory perspective. If this is unique it is not easy to regulate. Therefore we have become convinced that the best way to get at this is the public-private partnership. The registry is a nice idea, but it must be a bit more deep than a listing of what people are selling in their of laboratories around the country. As we look at the three primary parameters, the first one, analytical validity, CLIA should be able to manage that. It is difficult to get that otherwise because most of the variation and analytical performance of a genetic test is at the local level and the laboratory. Inspection and proficiency testing gets it. I don't think an FDA role on the analytical side will help much. It is a very powerful benefits on the manufacture test side, but I don't think it directly translates to the clinical laboratory environment. When you think about what people want, the public wants accessible tests that are accurate and have value to them for whatever clinical situation they are applying that testing. And to think about there is more information available than there was 10 years ago when we did the taskforce on genetic testing work. I think people don't really understand what they get with a different regulatory models. One of the things that is clear from an FDA evaluation is they do clinical possibility. They aren't in the position ready to say that a payer should pay for this test. They said that it can detect this, and it has a relationship to a disease. But they don't always say that it is [ indiscernible ] as of the time that this will be informative. I don't know that FDA is the answer. It definitely needs to be part of the process, but the fact that they focus on plausibility is not what the public is really looking for. They are looking for what is accurate and useful for their own situations. Clinical utility is certainly valuable. Genetic tests often don't come with the same level of statistical power that one wants in a clinical utility analysis. Clinical utility is something we all want for things that are done in a large populations. But and the rare-disease world it is difficult to get beyond the diagnosis in the test itself. So if you don't accept that the utility it will be very hard to accept that any of the tests we do are useful at all. So what we have been doing, we requested the gene tests send us their entire library. We have both said to have a complete access file of every test and seen that is available in gene test with the first goal being to see what it takes to lay down the clinical validity for the various intended uses of those tests. It is hard to do at a regulatory level because even in a diagnostic setting inheritable disease genetics, you end up in a situation where the variability is such that you may have a 90 percent chance when somebody has all the features of a disease that you will detect that analyte and it has clinical value to the patient. But as you move down to what might be a very long diagnosis you arrive at less and less likely scenarios that may still be important for that particular patient. That is what we talked about and is not something easily constrained by a regulatory perspective because certainly the regulatory perspective has lots and lots of exceptions for the practice of medicine which is how we deal with those decreasing values that might be available as one is to go down that differential diagnostic list. So our interest is really an informant that public-private partnership. Unlike the people at this table here, I did get to advise legislators and will spend the rest of the day doing that because the fundamental problem, I think, in moving towards developing a register that is not just a listing of test information about why they are clinically valid and particular situations. It will require all groups to accomplish this. We want to figure out resources and to spend a fair amount of time today doing, and then we want to figure out who the participants are.
Thank you very much. You have been clear. I think we -- you have been some specific I think everybody understands exactly what you are saying. Thank you. Don't leave to go away from us today. You should stay around for awhile. [ indiscernible ] from the National Society of Nursing and Genetics. And the last person was Michelle Schumacher from the Association of Molecular Pathology. And I want to respect these last ones. I know we are well on our break. So hopefully you guys will be able to hold off for just a second as we bring this to closure. We are pleased to give our full attention to you.
Thank you very much. My name is Emma, and I am a registered nurse to represent the International Society of Nursing and Genetics. Is a global organization dedicated to the professional growth of nurses and genetics engine damage. We congratulate the systematic efforts to regulate the oversight of the tests and results. And that the committee found significant gaps and oversight. We sure overarching concerns that it could lead to public health. Furthermore we are hopeful that the HHS health care initiative well advanced integration of technologies capable of [ indiscernible ] treatment strategies to individual needs. Overall we support the committee's recommendation to enhance interagency coordination. In particular we support development of steps to foster resources, education, and knowledge. In examining educational policy we highlight for consideration today. We take exception with the committee's conclusion that steps can be identified and addressed with the creation of a genetic testing are such specialty. The absolute value and comprehensive testing and patients are so largely unknown secondary to the highly complex and unique nature of genetic tests. Number two, we are aware of gaps to the extent at which clinical validity can be evaluated. We support the recommendation to create public resources and recognize that the American public will be best served as diverse ethnic, racial, and geographic subgroups are represented. Number three, in reducing system gaps and improving oversight we take exception with recommendations to the voluntary genetic testing. It will not be sufficient. We support strengthening federal monitoring and enforcement. Number four, we applaud the committee's concern for health related tests and agree that there is insufficient oversight of laboratories currently developing them. Given potential for misinformation and exploitation which make it taint public perception we support expansion of CLIA statutory authority. With respect to [ indiscernible ] we are acutely aware of genetic knowledge and agree that current strategies are inadequate to address them. We have further recommendations and the testimony for today. We fully support HHS collaboration. We support genetic expertise as essential when providing and interpreting every it's genetic tests. As the largest body of health-care providers purses have continual and close contact with patients and can intercede to prevent and/or [ indiscernible ] that may come from genetic tests. We repeat the need for greater visible nursing representation during the proposal and development of oversight and educational efforts. In summary, we congratulate the committee for considerable work done, and we deeply appreciative of a charity to comment on this important document.
Thank you. That is pretty straightforward. Thank you and well done. Michelle who is with the Association of molecular pathology. And I need to let you know that -- and again, I'm well aware of the break time, but the principle of trying to get as much public testimony in before we start grappling has been well served by the comments we have been seeing and all of the other ones. So from the Genetic Alliance we have a representative. And we will ask Sharon to come forward and present and then that will be our last one. But I don't want to miss the opportunity for Sharon to get her comments in.
Good morning. I am Michelle Shoemaker, and I'm speaking to you as a member of the Association for Molecular Pathology. We have provided comments to the Committee on numerous occasions in the past. We have the definition of genetic tests. Under the definition the test would more accurately be called molecular tests than genetic tests. And we encourage the committee to define which intended uses are included in the intensive oversight of genetic testing. Second, our generic tests different from other clinical laboratory tests? We recognize that tests are unique in several aspects. We are concerned that certain types of genetic testing marketed directly to consumers fall outside of the current regulatory oversight of CLIA and encourage the committee to further explore this area of genetic testing on public health and the distinction between clinical genetic testing and health related to direct to consumer market testing. Third, requirements for the laboratory personnel. CLIA already stipulates roles. It recommends that they be reemphasized. We encourage the Committee to modify recommendation 1-B to include the recommendation that CMS work with professional organizations to develop expertise of guidelines for there inspectors regarding the levels of expertise that are picked required for different kinds of genetic testing. Fourth, the role of CMS, CLIA and [ indiscernible ], we offer our expertise to promote expansion of proficiency testing programs for better oversight of director of consumer marketing of clinically dubious genetic tests. And we want to assist in the quality of genetic tests. Voluntary organizations creates detailed practice guidelines which effectively fill many holes that some individuals believe exist in the regulatory framework. The team approach in which Government Industry and practicing clinicians work together is a viable and desirable alternative to regulation for many genetic engineering tests. We are concerned that registration of genetic tests reduplicate the information already submitted as required under CLIA. We strongly support the CMS enhancement of registration for non [ indiscernible ] laboratories by enhancing the CMS infrastructure to achieve this goal. We support the proficiency survey programs currently available with additional satellites as necessary. We intend to begin publishing best practices and look forward to working with other organizations such as the CAP and ACMG. We strongly reviewed [ indiscernible ] as well as studies by CDC, other agencies and manufacturers and support integrated efforts to collect post market data. We are concerned that the current recommendation could create duplicate of systems and laboratories performing this test. And finally effective communication and decision support. We reiterate our commitments to participate not only in pursuing the success of this project, but in translating for the betterment of the public health and well-being and that we remain available to assist with or provide additional information for your thoughtful deliberation and important work. On behalf of AMP I thank the committee for your time and for listening to our concerns.
Let me just make sure -- this is very good. The key to your presentation to me is with point number four which you say again is ultimately that you will work with others to ensure the everything is okay. Are there any in those recommendations where you are calling for a material strengthening of existing recommendations, or is the essential aftertaste of your presentation that things are basically okay and you guys are going to work hard in good faith to keep making sure that everybody is doing right?
Right. We do support enhancements of CLIA where there are clearly gaps, particularly with the direct to consumer genetic marketing tests and agreed that there may be some -- FDA may be able to provide additional oversight. B. -- we do support continuing public dialogue to identify those pants to identify the intended uses. They also require additional oversight.
Okay. I think I got it pretty clear. All right. Thank you very much. Leslie is Sharon Carrie.
Thank you for the opportunity. Thank you to the taskforce for your work. It has been enormous. I speak on the order on behalf of the board of directors, and I know you received a written pages of comments. I will call out seven important concerns and more importantly move to a global view of your task. The first step is to enforce existing regulatory authority. In addition, is is important to take action on these identified interim steps. That discretion and immediately implement the necessary steps. For example, proficiency testing expansion and control training of inspectors and additions to the vest. It is clear that the mandatory test registration --
[CAPTIONER
Three, we agree the more public resources-That more public resources should fill in the gaps . We believe any such undertaking should prioritize on clinical need, and a proper resource allocation. Four in order to maximize benefits and public harm a public assertion of stakeholders should best-Including the establishment of evidence Gerry standards and increasing the number of systematic reviews. Five, --6, Director Consumer access. The testing must be carefully regulated to ensure the public safety. Seven, HHS much convene the HHS agencies as well as tickleds. In addition, HHS must take the leadership role in coordinating the activities of the federal agencies under its auspices for the benefit of public health. More important than these concrete recommendations is the overall pace of tests and testing and the integration of to necks into Madison and prevention and wellness. We recommend that HHS take a broad an enlightened view of the landscaper but we are at the dawn of a new age and innovation Development is critical to advancing human health. Genetic testing is a disruptive innovation and this is a critical time for development of new paradigmses. HHS can and must require that federal agencies work together with one another to achieve the best possible solutions. Human health is no place for politics and turf battles. Excuses such as the burden is too great or is too difficult is unacceptable in the realm of health. We, the entire testing community have achieved a great deal over the past year in understanding each other's issues of the it is time now to engage each other in meaningful and when Mark solutions and collaborative model. As a deliberate over the next two days, you are representatives of the millions of individuals who are suffering, sick and dying. Not an easy task. You must keep them before you probably are your loved ones, neighbors and friends. You cannot offer answers or opinions from your silos or of the interest today or tomorrow. You must push the boundaries for the sector company Commodore university or constituencies and represent what is best for the public but in this country and beyond. Before you speak to not think of your position of the greater good to be gained. Focus on the intended consequences rather than the unintended consequences. This is not a [ indiscernible ] game. While the status quo will be stabilized in the short term, we will all win in the long term. It has been a ticket Center Committee has made important recommendations. Regardless of the Secretary's response, we as a community, are further in mind by your work and they have a responsibility to one another and the world commodity to strive for solutions that will release the incredible potential of biomedical research. We must all remain engaged in dialogue with one another, seeking to tell the truth and discover new pathways to gather. We have a historic opportunity before us. The estimate to measure our responses, products on behalf of the better guide. Thank you.
Thank you, some much. Two quick questions, Sharon. Remind us of the genetic Alliance.
The genetic lines is a network of many, many organizations, companies, universities, etc. The go primarily, our bridges group of individuals and organizations under auspices is 650 disease-Specific organization.
Is our consumers?
Yes.
Let's take your seven points, real quick. You provided a terrific bridge to the break and discussion. As we go through your seven, essentially, in terms of the recommendations that the committee has made so far, if we go through those seven, where are you-I am trying to do the math on what you said. Are there overwhelming, profound differences with the report, the draft where we are now, as we go into this discussion that you are all concerned about? It sounds like a lot of them you are agreeing with where we are today. I want to make sure that we do not lose in the seven points some things that you are really taking the draft report to task for.
I have not seen the current draft. I believe it is different than the draft I saw. We differ in our understanding of the strength with which I believe this committee must-That CLIA be advanced and we look at proficiency testing. That is important and is not strong enough in the draft I saw. The second would be the mandatory genetic test registry along all laboratory developed tests that the House that a federal agency. I am also very clear about that in my mind. That has become very clear, not one of the first commentators hear from the 21st century medical coition talked about that. We work a lot with industry and universities and thought leaders. The mandatory registry seems to be the way to get the [ indiscernible ] on the data. If we tell our kids something it is voluntary, it does not get done. It is time to be responsible for them.
Lastly, not one of the things we keep hearing from some people who comment on over regulation, is the chilling effect on innovation, thereby, decreasing access to new knowledge and new tests. As the consumer community, are you chilled by those cautions are around, again, again greater attention to CLIA and so for the. Are you concerned, in fact,-You told us to not focus on the unintended. Focus on the intended. Are you concerned about this potential chilling affect on innovation?
If innovation is chilled, I am concerned. I come from the [ indiscernible ] committee where it is even harder to get people to innovate. I think this has to be done carefully. Our work, especially with the companies and genetic testing spaces has been very important to open our eyes and I believe enhancing CLIA and a mandatory registry does not show innovation. In fact, it brings a lot of stability to the Bill that venture-capital lists, etc. are looking for.
Thank you, so much. You are terrific. What a morning.
[ LAUGHING ].
I think we will, obviously, take our break. It is 20. We will see you. I have a reputation for starting on time. At five minutes to the hour, every minute being precious, we will start at five minutes to the hour. To go to the cafeteria, you need an armed guard.
[ LAUGHING ].
Those with visitor badges will have to be escorted by security. Are the security people out there? We will figure it out or go and see you back at five. --See you back at five of. Mac [Break until 10:55a ET].
[Captioner is on hold on audio line waiting to be joined back into meeting after break.].
Welcome back. I want to make a special note and a special hello to the 32 people who are so committed to what we are doing today. Even though the video is not on live, there are 32 people listening live to the audio. You are beyond terrific and we think you are wonderful. For those, you need to know that the video part is actually in a delayed broadcast. It will be up in a couple of hours and people will be able to watch it on a time delay the deal. We are told that tomorrow the live video will be up in the morning. There is a video to it. It will be Time delayed. We are appreciative of all of that. Now, to the discussion. We have heard a lot to. I thought that Sharon's admonition as we went into discussion is critical that we have a lot of stakeholders that have voices in says. I thought she was very passionate about thinking through and being balanced. There is also this issue of the chilling effect on over action and the harm of too much action that people have been deeply passionate about. We will work through these delivered to a fleet and thank God we have Andrea to lead us through it. I will be a traffic cop, but the floor is yours.
Thank you, Reed. Can everyone here me in the back? Okay. Great. What we want to do now is go into over you and some of the oversight sessions. Before we dive into specific discussion and specific recommendations, I am going to give you a little bit of background, when we receive the charge and what jokers' up until the point we are at today. As Reed mentioned, most of the meeting is to the discussion deliberations we need on the draft recommendations that have been developed to address the secretary at the charge to us for a genetic testing. Before we begin the process I will review our charge, the process we used to draft our report, the public comments we received on the report, some of which were just reiterated for us and the changes we have made to the report in light of the public comments and further deliberations. Although I will be reviewing comments that pertain to build, I want to emphasize that we will not be discussing the report at this time and great data put the focus of our deliberations for the next two days is to finish with the recommendations. By the end of the session tomorrow we hope to have consensus on the recommendations and approval of the transmission to the Secretary. We will also seek the committee's approval on principle. Keep that in mind. Which is what approval on the principle of the document. It will be further later edited for the month of February and then submitted at the end of April to the Secretary. About to take a moment to highlight the Secretary's charge, which received at our March 2007 meeting to remind you that our final report or recommendation should address the issues raised by the Secretary and the charge. It begins with a request to develop a comprehensive map of the steps needed for evidence development and oversight of genetics and genomics tests with health quality as the primary goal. We need to emphasize some of the decisions that we have responded to the Secretary. We have done that. The chart also tests the committee to a decidable existing path is that examine analytical ability, clinical polity and clinical utility up - -The roles and responsibilities to the government agencies and private sector organizations. We were also asked to conceive whether genetic tests are different from other tests for a purpose is to provoke the charge as several questions about proficiency testing, communication pathways to guide the use of genetic testing and approaches and models of involving the public and private sectors to demonstrate clinical validity and developed clinical Utilities. Lastly, we consider whether additional or revised government oversight would add value to our patients. As we receive the charge from the secretary, a group volunteered from SACGHS, which were six members of the committee either volunteered or [ indiscernible ] to be a part of this group, which needed to be able to deal with these issues. We call it the steering committee. The steering committee believed in looking at specifically the charge and developing from the charge a scope of what our document was going to be as we look to the charge and scope of what we're cent content intended content intended to talk to the Secretary, we decided how the document would be organized and divided into the different chapters. Add hoc members and field experts were brought in as we started to realize the scope of the charge that we needed [ indiscernible ] with different types of the expertise and material experts. I have listed all of them here. I would like two thank the steering committee and experts today devoted a lot of their personal time to look at these issues. We had a number of different meetings, conference calls two in phase meetings in July and September and worked tirelessly to come out with the document you see today. We discussed the activities in detail and previous meetings. I will not go in detail of what happened at the previous times. This briefly summarizes those activities. With the [ indiscernible ] sections in the report, they were divided into three chapters. The reason we divided it in different chapters was to tackle some of the incredible tasks we have in front of us probably worked for the summer and fall and were able to, with the conference call with the entire SACGHS committee, put out a report, a draft report for comments. Those comments took place from November 5th to December 21st. We received 64 sets of comments from a range of different stakeholders. I have listed here the difference stakeholders that we have received information from. You also have a summary. Ask you concede from the slides, the majority of the comments were from professional organizations. Some of them we already heard this morning put the toll from industry, 11 from government agencies, five from healthcare professionals, six from advocacy organizations, a and one from one individual. The steering group began analysis in late December and we receive a package and were so excited to be doing this over the holiday.
[ LAUGHING ].
I want to think that people steering committee to take the time over the holidays and January to go through the exhaustive review of all of the public comments. We met by conference calls the first three weeks in generate. Every Wednesday afternoon we had a conference call and discuss the public comments, specifically and what changes needed to be made to the recommendations and text. The revised recommendations were sent to the task force. We are getting into the task force to get a wider perspective from individuals that have already contributed. We had become its call on January 23rd. We invited task force members to present additional comments. We will have a member of the task force present them later today. On January 23rd we made some changes to the recommendations referring to some of the comments or discussions we have with the task force and presented these to the whole committee. You remember our conference call on January 38. The conference call was to not discuss the recommendations but give you an idea of where we are and for us to get a sense of what areas we need more further discussions or deliberations today and tomorrow. Of the most of the comments offered [ indiscernible ] for specific sessions for the report, the overall comments were positive. Mao's thought that the report was responsive to the Secretary's charge and provided an excellent review associated with genetic testing. Become mentors also recognize the delicate and of the report included diverse stakeholders. Some recurring themes that emerged from the public comments are listed in the slide propose several were concerned that the definition of genetic tests will sweep it under--To address this we have made changes to the text to provide further examples of what we actually considered to be a genetic/genomic tests. Genetic tests are no different from any laboratory test. They may differ in other ways such as communication or the results to the patients or even healthcare professionals. It is important to know that there was strong support for an increased proficiency tests and a large number of the comments were positive of this development. Comments for registry of genetic tests favor a mandatory approach to go there was no clear indication of--The deal, an articulate a preference for CMS and FDA. In reality most [ indiscernible ] about the registry. Those made some comments, which were the majority, provide different places where the registry should reside. Comments also had concerns about director of consumer advertisers and testing and agreed with the recommendation for regulation to cover this type of testing. In addition there was overall agreement that enhance oversight is needed for genetic testing. FDA a party to regulate laboratory tests was not questioned and the regulatory approach was reaffirmed, although there were some comments criticizing FDA guidance. Comments recognize there is adequate evidence for the clinical validity of many genetic tests and the importance to these [ indiscernible ]. Although many agree with the date for roles and accessing and supportable and favor CMS role in this particular issue. In addition to addressing gaps in clinical validity, the comments also called for more evidence and analysis of clinical utility and increased--Of healthcare providers, public health for officials, regulatory officials and actual payers. Last but not least, before increasing oversight, the benefits to patient access and cost should be considered. We changed Some of our recommendations to make sure that the state called thes are part of the recommendations that we are putting forward. We made some revisions to the report as a result of these public comments and further deliberations, not only on the steering committee but the task force and added public health surveillance as a key consideration in the Executive summary, added introductory [ indiscernible ] added methodology section to explain reports development, how do we, when and how do we get to the development of that particular report, and also revised the definition of genetic tests to include genomic tests. We are robbing to be a lot more clear about that. There were other revisions of the report and we added information about the Senate Bill [ indiscernible ] oversight of newborn screening activities of the Secretary advisory committee on genetic diseases and newborn children to roles of federal agencies in research and development and evidence and some of which is located in Chapter two of the knowledge generation agencies in Chapter four. We augmented the discussions and nanotechnology to include devices using extremely small amounts of material. We added the term reproduce ability as a key term in Chapter four probably updated and corrected information about the CAP products and performance and collected information about [ indiscernible ] biological materials and augmented the list of professional societies in Chapter four to make sure there were as many as we could list. Again, we cannot do an exhaustive list of all of the professional organizations. We have other activities that we are currently undergoing [ indiscernible ] to discussions of the clinical utility of the test. Patient access to genetic expertise. We corrected information about [ indiscernible ] and called it FDA approved or cleared what is a laboratory test. Add information about privacy concerns related to the director of consumer testing and advertising and commercially operated a [indiscernible]. We added CAP developed access sheets and examples of clinical decisions that are currently being used for newborn screening. So, the next debts, and here we go to today. As you can see, at the end of February, the final recommendations and the revised report will be submitted to the Secretary. Today we need to further discuss the recommendations and actually come to model afternoon to finalize the recommendations that will be submitted to the Secretary. We will still be receiving comments on the draft report, even though we will not be discussing the draft report. Which will ask you to approve it or not in principle part of the edits will be accepted until February 20th to make sure there is enough time to insure editing of that draft report. The final recommendations submitted to the office of the secretary by February 29. We will continue to work on the report over March until April 16th and have a final review by this entire committee done by a teleconference. April30 it will be the final report said formally submitted to the Secretary. Again, just to make sure we all understand and are on the same page, the focus is to finalize recommendations by the end of the meeting, additions to the report content can be sent to Kathy. She has been incredible in support to our efforts here.
[ APPLAUSE ].
Before we begin our discussions of the recommendations Cliff Goodman will give us a presentation of the comprehensive map. It is part of the Secretary's charge. We want to review it in some detail this morning for a two reasons. It will from our discussions and we have a very good understanding of this map of oversight. It will be a good premise for the work of reviewing the recommendations. We want the committee to weigh in on whether the map fulfills the charge of the Secretary. Remember to keep that in mind. Cliff built joining us by phone. We seem to be working with the people who get to travel to very fun places while we are here in Washington D.C.. Maybe we should ask Cliff to bring us something back.
I will do my best. In.
Staff is here that worked tirelessly to help us develop this map for the presentation. Cliff, welcome. I am pleased to continue with this review of the map.
Thank you, very much, it Andrea. Can you tell me know if this is a proper tone for my voice? Is this clear enough? Is this clear enough?
Yes.
You are very clear.
I will proceed properly should have a title slide in front of you which is as comprehensive map of genetic testing oversight. We will proceed to slide two. As you can imagine this map can be quite complicated and but I would like to do is present it at a very high level. You see in front of you five main sectors. As a matter of fact, if you want to extend the analogy of a map, you could think of five main continents of genetic testing oversight probably start out with research and development on your left. In the middle are three to 9-Except States which is New York and Washington, in particular. In the center is the main CLIA pathway. At the bottom is the FDA pathway at the far right is the sector four availability and reimbursement. Those are the five main sectors of the map. Am I still being heard clear enough at this but that?
You are very clear. You are locked into the sly. It is if you were in the room.
Thank you, Dr. Tuckson. Let's go to slide three. You've seen on the far left, the research and development sector is highlighted. What I will do now with the help of our team is described each of these individual sectors of the map, these five sectors. We will pull them all together in the final slide. Let's proceed to slide four, now part of this is the research and development sector. We will talk about this part of the map and walk you through the main parts of it. We do not have time to walk through the entire bit of it probably will talk about understanding Kathy disease interactions with basic research and a cycle of prototype, design and preclinical development. Coming out of preclinical development, we will do clinical testing, perhaps, of the device. At the top you will see test clinical development. You can arrive there directly from preclinical development, although in some cases, it might have to go from just below where it says apply from IDE which is test kits and so forth. That is the permission needed to test a device, including some tests, not all, in people. That is how you arrive at the clinical development of tests. Extended to be right back from where it says test clinical development, you can go directly up to LDTs, that his laboratory developed tests. That is one Route. You will see [ indiscernible ] and this group, of course, knows what those are. That is typically, but not always common characteristic of test kits and test systems developed by device makers and other companies that will manufacture of these. So, those are not to routes for devices. Now, you will notice quite interesting where it sells LDTs, there is a downward pointing arrow. That reminds us of that sum LDTs are IDE or [ indiscernible ] problem you will see that these are subject to FDA review as well as the CLIA oversight. It starts being a bit complicated there but it is important to understand, especially in light of more guidance that indeed, some laboratory developed tests must be subject to oversight that way. Now, going back towards the top where it says LDTs, you will see that as the exhaust into three main directions. Onewill be the CLIA-Exempt state route to protect the next is the available for use route directly part of that, by the way, the secret that you will find later on is the direct route for direct to consumer tests which end up by passing a lot of this oversight. That is a gap that the committee has noted. Then, the St. CLIA regulation is the third arrow off to the right. Before we leave this slide, I want to remind you of a couple other things. If you go back to where it says [ indiscernible ], and there is a arrow dropping down for class designation, when a company applies for FDA review, they will put it in as a Class 1A, Class A2 are Class three device. Echoes in the low right side, application for an FDA approval, it is typically for the PMA Route. Before we leave this side, notice at the bottom we have provided a pathway for code developed a therapeutic. It might be new drugs or, perhaps, biologics that might be developed and parallel to certain tests, certain genetic tests into digger. Although we will not dwell on the Therapeutics a very much at all, there is a place in the map for that code development and, indeed, the metaphase one, two and three trials, and civil is appropriate. Before we leave this slide, a discount to remind you that you will see a double asterisk at the bottom left-hand corner of this first slide that says functions of the differing quality system regulation. You will see on the slide at the FDA design controls were accounted for. Is as basic research and prototype design. You will see two other functions of the FDA Quality System regulation subsequently. That is what we are calling the research and development sector of the map. Noted that towards the top something that says G2 near LDTs G stands for gaps. The gaps were identified by the task force. Very important one says G2 refers to as sufficient clarity about the FDA wall and regulating Babbittry developed as part of the report goes into greater detail. This map shows in very short form or than 30 gaps. That is not one of the more important ones that show up on this sector. It is okay, Dr. Tuckson, I will move onto the next sector.
Please do.
Okay. Slide five conjugal see here that we have highlighted CLIA-Exempt States at the top center. Let's turn to a slide six. This is the CLIA-X and state sector and is primarily for new York and Washington State. We will start at the left middle that says tonight-Exempt. We will start with New York. This is CLIA oversight of the laboratories themselves propose that right arrow goes into a sector that has five main sections, starting with proficiency testing, Quality assurance, personal standards, a and equipment inspection. This applies to those attributes of those laboratorieses. You will notice coming out of their just below personal standards there is a right going arrow that points to analytical and clinical solidity review. If you look at this field, you know that there are some special things about the CLIA-exempt States with their examination of clinical and analytical review our good you can go up to it the New York lab approval of non-FDA approved tests, which is a very important function. Up from that is the Newark-State's licensed/CLIA-exempt. Coming out from the right of that into the right and down is the availability for clinical use. Now, in order for these tests to be available for clinical use, they need to pass through this New York State/CLIA-exempt. That is the pathway. If you look at the lower left-hand part of the inside where it says LDTs, if you remember this is not one of the pathways From our previous slide, they progress to the right and up. Those are the one subject to analytical and clinical reduce that to go to the New York lab approval and it can be provided by these New York State license/CLIA-exempt exempt Laboratories. That is the route. Weapons for the test to be available for clinical use is it has to have come from the LDTs and be subject to the oversight of these laboratories. Once the laboratory is subject to that, it can provide these tests for the that is what we are trying to show provoke the blessing to show on the slide is in the right hand corner, is by inspection per but that is another aspect of oversight and that the state's. If a laboratory does not do well, there are certain sanctions. They might lose their CLIA-exempt status in some cases or might not be able to offer a certain test. The feedback goes to the CLIA-exempt state regulation function. As a matter of fact, it can go back all the way to the LDTs in the corner because data from that inspection can be fed back even to improve test Development. So, that is the work of this one. Just imagine of a couple of the gaps program will see in the center just about proficiency testing those are gaps nine through 11 portables have to do with the exhibition resources to develop a proficiency testing for our genetic tests. Sharon refers to PT where sequencing has not been fully developed in the United States. These are some excerpted gaps from the text of the report. That is the CLIA-exempt state sector. Was moved to slide seven.
As you do that-By the way, you are doing just great propose something you just said at the end that I want to make sure-the gaps that you have so specifically identified and mapped to the map all come from the body of the report.
Yes.
You are summarizing the report. I think is important that people understand whose words you are using the. Thank you.
Dr. Tuckson, just to be more clear, we did some paraphrasing and shortening. Which I did it to the center of the discussion of the gaps to put on the accompanying she'd probably do, indeed, come from the Report. Yes. Okay. Let's move to slide seven which is the CLIA sector and slide eight, which describes in more detail. On-site eight, let's start towards the near left which is a CLIA regulation. You will see that that points to about five functions of there. Somebody should be familiar. Personal standards, quality assurance, quality control, analytical ability and proficiency testing. Outcome --To the right is denied accreditation. Another important thing to consider is the CLIA oversight of the several and functions along with inspection survey requirements--CLIA accreditation about that is not the same thing as a proving a test of a laboratory with the CLIA accreditation will be the laboratory that can provide this, the test probe of the test comes in from the upper left which we will seek LDTs from research and development. This is another pathway from that sector. It comes from the top of this sector than to deny accreditation. We are trying to portray their, the test as services become available from the CLIA-Accredited Laboratories, which have gone through those other bits of oversight, the several that I just mentioned. Off to the right back, they become available for clinical use a turbo once again, coming off the bottom of the CLIA accreditation, you will see by and allow inspection a and, again, in the analogy towards the previous slide, the biennial inspection, if it does not go well, the laboratory could lose its denied accreditation or not be able to offer some tests. That is very important feedback to the CLIA process and even to the R&D process and that you learn from the biannual inspections that can improve test and development in the future. Before leaving this one, I want to point out some of the gaps. You will see just above denied regulation gaps 3 to 8 propose correspond with the last progestin name one, Gap six, there is a lot of emphasis, which is insufficient resources to establish analytical validity, clinical validity and clinical utility to address gaps in evidence for an increasing number of genetic tests. That is an important gap to call attention to there. For example to the far right back side, and denied accreditation, a gap 12, is sufficient [ indiscernible ] laboratory tests prior to initial clinical test along the CLIA path with. That is another one that arises from the report. That is a very quick run through of the CLIA part of the map. Let's go on, if we can, to the slide nine. This is where we will highlight the FDA sector of the map. This is how it ties in and then onto a site 10. Let's start up at the upper left-hand corner. You will recall that we got to this part of the FDA sector from a couple different directions. Onecomes in from the top their brother is a downward arrow from research and development. That can be-Those can come from device makers with test kits and test Systems. Remember that some of those might be, for example [ indiscernible ] that a laboratory developed test that is LDT [ indiscernible ] and day, too, are subject to FDA oversight in this model. Towards the left where it says therapeutics, we have that parallel pathway for drugs or biologics that might be developed along or in parallel with the test provoke both of those converge on applications for FDA approval. Now, let's take the device, part of this first party to the right application you will see a of the PMA at the top which are novel devices what there is not a substantially equivalent device on the market Africa that is the steepest route to take four tests per but also see at the bottom the 510K. That is the equivalent test about that means that something has been on the market or it had a predicate as of 1976. There is also the special rights, the 513 F. as to which is to get the to know but [ indiscernible ]. That is when a device does not have a predicate on the market but does not present a high level of risk. Is trying to get a way to not have to go through the full PMA route but it is called the the novo 510K propose are to the FDA proposals and inspections are coming out of the right hand side of that, to the right and two application Review, that is when it is reviewed by the FDA. Depending on the technology, it might be analytical validity. It might be safety and effectiveness. Of course, that is a very simple way of saying the kind of things that the FDA is looking for. The one way they can get FDA approval,--Onward toward availability for clinical use. You will now does, by the way, just below and to the left of available for clinical use is the FDA Post approval inspection program that is another aspect of the FDA QSR. There is the route for the code developed or biologic therapeutic drugs or go BLA is the biologic new application. That is what you need to submit to the FDA to get review of these products to go to market. I hope you see that this is highly simplified to throw attention of these paths to go through one date --Those are the main point here insofar as the FDA routes. If it is okay-Sorry. A couple of the gaps to the far right that is below where it says FDA approval/clearance you will see G six. We have mentioned before about the insufficient resources. Gap 14 is insufficient evidence of clinical utility for most tests. Remember, even when they go through this process, it is Bradley the exception where you get good data, good evidence of clinical utilities. That is a very important gap to point out here. This is reflected in other discussions. If we might, then, let's look at slide 11. PC the 30,000-foot level. We will look at availability and reimbursement. That is the far right and fifth sector here. On slide 12, let's look at the top. You will recall that we entered this sector from four different main pathways. Onewas from the CLIA-exempt states, New York and Washington. There is a route to get here from that. Another was the special bypass, director of consumer tests. That is by not-CLIA certified labs, a typically. That is a pretty good bypass of the system. Your report has called attention to that part of the third is from CLIA regulation probably discuss that. The fourth is from the FDA approval or clearance way. There are four Midway is to get into this sector. Adjusted dancing up towards the top or is available for clinical use, that is how they become available for clinical use. Let's drop down from there and you will see that you have DTC, which is direct to consumer. It can be acquired by consumers' provoke the direct access, DAC, it should go back to a laboratory. There is clinician testing and testing by laboratories and so forth. Those are the several main ways that something becomes available for clinical use. You will see to the right of the DTC, DAC and lab that those organizations have different types and levels of oversight and other involvement in how these things are done. The FDA, the FTC, the courts, many organizations, we put a question mark after Gina. That is still pending. After we go through these gateways to become available for clinical use, you can drop down and some tests to the right are subject to clinical Review. This is a highly select number of tests at of the task force looks at some of those. EGap has looked at some of those. These are pretty good but limited efforts pro-Moscow the left-wing, been subject to another look at clinical utility carefully. Coming off the bottom of that toward reimbursement and the right. There is a arrow going to reimbursement for but that is carried out by Medicare, Medicaid, private insurance, and other. That goes into reimbursement. We do not show a bunch of other arrows to where all the money goes program that would be too complicated. I think you know where those go. Interestingly enough, also, another arrow goes to post marketing surveillance to the left. That is the market, but not entirely by FDA. When you have that, Post marketing surveillance, there is a lot of feedback information propose some post marketing surveillance is fed back to reimbursement because players are interested in what happens to the tests and how my affect their coverage to the marketing and surveillance goes to the left to the research and development sector and even the FDA development part. It might be used to resupply for a more broad indication of FDA are my change how the FDA couches its indications or labeling for marketing of tests and availability of tests. Notice, too, that at the very top four is as outcomes research, I do not want to forget that. Wants a test becomes available for clinical use, breeze organizations in the public and private sectors connect outcome research. The findings can come back to finding of a billable use and clinicians and others can use that information to reform their decision about how and when to use a test. After the right is the feedback that goes all the way back to reimbursement. Remember, the payers are also interested in outcome research. It might affect their decision. Outcome research can go all the way back with Post marketing a to the R&D sector and FDA decisions. That is the overall picture of the FDA part of the map. I want to bring attention to some, not all of the gaps. Let's go to the top where we see G 15 and 16. G 16 is a growing number of genetic tests that are offered based on genetically validated genetic association study's purpose that is not one thing that came out of the report. Let's go down to the lower right hand side which is G 32 and 33. 32 refers to inadequate outdated systems for coding, coverage and patent for genetic tests and Services. 33 raises the potential for misuse of genetic information and insurance and--That is a concern of some. That is what I know that some people are interested and Gina, for example. We are delighted to to to some of the gaps in the report provoked that is the FDA sector, real quickly. If you are brave enough to turn to slide 13, slide 13 is the big picture we put all of these five sectors to gather. I hope you realize why we did not show you this first. It would have given me an upset stomach myself this is all put together. And want to take a few things about this before turning back over to Dr. Tuckson. This map does try to represent the current system. Is a complicated? Yes. Is a simplified version of reality? Also yes. This is not a map to represent where we need to be or what would like to be or some ideal. This is a decent, high-level snapshot of where we are now out of the white is a complicated? Well, it is complicated because it needs to accommodate a great, involving the diversity of testing and testing services that evolve over time. It also has to reflect a patchwork history of legislation and regulation that have applied to tested over many, many years. It is not complicated by design. It is complicated because it has to account for an extraordinary diverse range of technology and has to be complicated in order to reflect the different historical reasons and [ indiscernible ] aggregation of types of oversight. That is where we are with this map. The map still needs some tweaking. We are welcome to more input for it probably will make it better purpose is where we are now. Back to you, Dr. Tuckson.
Thank you. I will get it back to Andrea in a second here. First of all, my God--
[ LAUGHING ].
I was looking at Kevin.
[ LAUGHING ].
First of all, what a terrific job. I think the companion code for the 33 gaps are actually terrific as well. If