Parallel Dataverses: Doppelgangers in Medicine and Recreation

Dr. Egon Spengler: There’s something very important I forgot to tell you.
Dr. Peter Venkman: What?
Dr. Egon Spengler: Don’t cross the streams.
Dr. Peter Venkman: Why?
Dr. Egon Spengler: It would be bad.

Some regulatory regimes in the United States, like those in the state of New York, require laboratories that receive and analyze any tissue specimen for any purpose to adhere to standards of clinical medicine. The laboratories are, for example, required to follow quality measures defined by the Clinical Laboratory Improvement Amendments (CLIA). Furthermore, individual citizens are prohibited from ordering laboratory services directly. They must, instead, work through a state-appointed and licensed physician if they seek to obtain personal biological data.

This restriction does not depend on the intended use of the data. An individual who wants to have the DNA in their saliva analyzed for recreational purposes, like genealogy or ancestry or education, still must work through a physician.

This has resulted in the paradoxical situation of non-clinical, clinical genetic testing. “Don’t cross the streams,” Dr. Egon Spengler would say. Well, the streams are already crossed and its time, I think, to uncross them. Biological data for non-medical purposes needs a paradigm distinct from the medical domain.

Here are a few reasons why this proposal should be strongly considered:

(1) Physicians are overburdened as it is, there is no need from them to be involved in recreational activities like genetic genealogy.

(2) Ditto for governmental regulatory bodies that are charged with ensuring the quality and safety of medical products and practices.

(3) Autonomy of individuals is being restricted unjustly.

(4) Enforcing clinical standards on non-clinical activities puts an unfair burden on individuals who may want to specifically avoid clinical implications of genetic sequence data, which might include the discovery of a medically relevant genotype (e.g., male infertility and genealogy testing) and health insurance liabilities.

So, what do you think? Should uncrossing the streams be an initiative we support? What are other reasons why this may or may not be a good idea?

Comments

17 Responses to “Parallel Dataverses: Doppelgangers in Medicine and Recreation”

  1. Alexis Madrigal on July 11th, 2008 5:13 pm

    At least in California, I know that ancestry testing is exempt from the regulatory regime. But I agree with your main point.

  2. Steven Murphy MD on July 11th, 2008 8:29 pm

    Jason,
    I concur…..nonmedical uses for your genome should be free of medical regulation……Not free of regulation, but free of medical regulation. They should at least demonstrate that they test YOUR sample….and report on YOUR results….they should have a QC process and be willing to have their lab inspected for protocols……But that being said, they should be free of medical restrictions. But what about when ethnicity plays a medical role??????

    -Steve
    http://www.thegenesherpa.blogspot.com

  3. Jason Bobe on July 12th, 2008 1:14 am

    @Alexis:

    It would be nice to have a breakdown by state. I think Kathy Hudson may have a lot of this information, some she presented at SACGHS. With all of the interest now, its a good time to highlight strengths and weaknesses of different regimes in existence today. One fear I have is that people look to NY as an exemplary model to adopt federally.

  4. Misha on July 12th, 2008 1:27 pm

    Kathy did indeed present this stuff at SACGHS. I believe you can find it on the webcast, “Morning Session After Break.”

    http://www.webconferences.com/nihsacghs/8_july_2008.html

  5. Steven Murphy MD on July 12th, 2008 5:54 pm

    Sorry….
    This is one of the posts
    http://thegenesherpa.blogspot.com/2008/04/over-regulation.html

    This is the other
    http://thegenesherpa.blogspot.com/2007/11/congratulationssort-of.html
    The breakdown is here
    http://www.dnapolicy.org/resources/DTCStateLawChart.pdf

    All the state laws
    Notice:
    Limited-CA, Ill, MD, MA, ME, CO, FL, NV, NJ, NY, OR,

    No Way- AL, CT, GA, HI, ID, KY, MI, NH, PA, RI, SC, TN, WY

    Pay attention…..the limited states sent the cease and desists……There are more states coming….trust me.

    -Steve
    http://www.thegenesherpa.blogspot.com

  6. Mr. Gunn on July 14th, 2008 4:01 pm

    Physicians are certainly overburdened and often unqualified to deal with this, but it’ll be hard to disentangle what’s medically-related and what isn’t until we have a comprehensive survey of what types of genetic diversity do affect health, and the only way to get to that point is to test a whole lot more people.

  7. Steven Murphy MD on July 14th, 2008 6:08 pm

    Yes Mr. Gunn,
    In well designed RESEARCH trials. With IRBs and oversight………No IRB? No ethical trial…..Who would waive informed consent for a research trial. And should they have to? Isn’t that known as coercion? “No genome for you, unless you waive your right to withdraw your sample and participation…” Does that sound responsible or ethical?

    -Steve
    http://www.thegenesherpa.blogspot.com

  8. diane on July 14th, 2008 11:37 pm

    This is the first time I’ve ever heard CLIA refered to as a regime. I work in a clinical molecular pathology lab and do lab inspections for the College of American Pathologists whose guidelines are CLIA based. Our lab is also certified by the State of New York and yes, we scoff them. I think all testing, genetic or diagnostic, should be orderable by the patient with interpretation by a physician optional. I absolutely disagree that any test should be performed without CLIA certification, though. Don’t you want your testing to be tested, picked apart, the SOP scrutinized, the control data trended, the equipment maintained, the workers educated, and THEN, when all t’s are crossed and i’s dotted, compile some beautiful data to share? Coming from a clinical background and being fortunate to also be involved in assay development, I find it only makes sense to be as strict on one’s own lab as the regime will be later on (and they do eventually always show up). By the way, when doing recreational geneology, there’s always the chance of discovering non-paternity. What fun that will be!

  9. Jason Bobe on July 15th, 2008 8:46 am

    Hi Diane, thanks for your comments.

    @Diane: “I think all testing, genetic or diagnostic, should be orderable by the patient with interpretation by a physician optional.”

    I agree with this too. I think the lingo is “Direct Access Testing”, some states allow it now, and others do not.

    @Diane: “I absolutely disagree that any test should be performed without CLIA certification”…

    The C in CLIA is “clinical” and therefore I have a problem with applying it to non-clinical practices, especially because of #4 above.

    As you say, CLIA requires a whole bunch of stuff like SOP, validation, equipment maintenance, educated staff, QC etc. And, everyone should want these things in a test. So, my assumption is that tests offered would have these things. They would be CLIA-like, but not CLIA, if that makes sense.

  10. Steven Murphy MD on July 15th, 2008 11:42 am

    @Diane

    “I think all testing, genetic or diagnostic, should be orderable by the patient with interpretation by a physician optional.”

    Have you thought through your stance? It entails some significant issues including liability of test results and the entire healthcare system as a whole. It is revolutionary and would require the complete dismantling of the Department of the Health and Human Services. The regulatory environment is not even close to prepared to cede any ground on this….so your wish, unfortunately is a pipe dream. Sorry.

    @Jason
    I agree with this too. I think the lingo is “Direct Access Testing”, some states allow it now, and others do not.

    Only 7 allow it and over 30 do not……..I think the trend is in favor of the latter. DAT testing is allowed in those states for simple binary diagnostic tests…..Do you think non-consensus genetic data meets that standard? I unfortunately do not. If it was fortunate, I wouldn’t have to deal with the scoffs of Mr Gunn et.al. :(

    -Steve
    http://www.thegenesherpa.blogspot.com

  11. Jason Bobe on July 15th, 2008 12:01 pm

    @Steve:”…would require the complete dismantling of the Department of the Health and Human Services”

    ??? Not sure what this means. Not very helpful to the discussion. As you say, seven states do allow DAT already. How is it specifically, less rhetoric please, that HHS would be affected if patients were able access testing services directly?

    I should say that even without the support of regulators, many medical tests are available without the need for face-to-face interaction with physicians. Providing support for DAT is probably a difficult proposition that would only come to pass if enough individuals demand it. Absent those demands, this probably will not be a priority among policy-makers by any stretch of the imagination.

    Regardless of DAT for medical tests, I think we’ve reached common ground on DAT for non-medical purposes.

    @Steve: “Do you think non-consensus genetic data meets that standard?”

    To have a meaningful discussion, we need to be careful about how we use words. Genetic data is just data: A’s, T’s, G’s, C’s placed against a reference sequence.

    Interpretation of data is different: “You are a carrier of a mutation associated with CF and your risk of having a baby with CF is X%”. Thats where consensus, or medical guidelines, like those of the ACMG for CF, come into play in this discussion.

  12. Steven Murphy MD on July 15th, 2008 12:34 pm

    @Jason
    “I should say that even without the support of regulators, many medical tests are available without the need for face-to-face interaction with physicians.”

    I would be really interested to see just how many. Do you have any breakdown on that?

    The Department of Health and Human Services comment was merely hyperbole……sort of.

    “THE DEPARTMENT OF HEALTH AND HUMAN SERVICES (HHS) is the United States government’s principal agency for protecting the health of all Americans and providing essential human services, especially for those who are least able to help themselves.”

    How is offering testing without appropriate medical interpretation and guidance helping to protect anyone’s health? Nor would it be providing essential human services….unless you think that a completely uncertain, not fully researched GWAS chip now being used for diagnostics is an essential human service…

    As for the data…..Thanks….my bad. I meant non-consensus medical interpretation of genetic code. Not just A,G,T,C ALL genetic code including methylation studies, etc.

    -Steve
    http://www.thegenesherpa.blogspot.com

  13. Steven Murphy MD on July 15th, 2008 1:01 pm

    After heated discussion with a pathologist here at Yale…..Not all DATs are binary…..some are standard panels we would use in day to day care of someone in the hospital…..Which leads me to believe….we COULD do this for clinically valid genetics tests……IFF the laboratory vowed to follow up the patient as if they were their own or until the results were reviewed with a trained practitioner.

    In essence….this would put the pathologist(MD) at the heart of care for DAT patients…..The unnamed pathologist, strongly disagreed. Especially because they really don’t even do an Internship involving patient care anymore…..so this whole thing just gets back to the whole assumption that patients can learn medicine via the web….

    With the exception of a few wonderfully talented people (the 3%) the rest cannot. This results in inappropriate testing, false security in a lab value and lack of appreciation of the clinical context with which the test was ordered DAT. What if your LDL is 130….fine for someone with no risks…but if your framingham is high risk, then you should treat….maybe. Who writes for your statin? Some doctor who cannot trust your lab results. Or some doctor who re-orders the test?

    Despite what Dr X. says….some trained individual should be responsible…..unless we are all for complete personal responsibilty for interpretation. Even the best SNPedia cannot write a prescription.

    -Steve
    http://www.thegenesherpa.blogspot.com

  14. Eugene (Gene) Thiessen, MD FACS on July 15th, 2008 4:37 pm

    I’m coming in late on this current discussion (at least as far as this “blog commentary” is concerned), but I’m struck by the fact that we’re “hung up” on the wrong issue….should DAT be allowed without, or only with, “professional” oversight and interpretation. From my perspective, laboratories should be required to adhere to standards of accuracy, reliability and consistency in their testing and reporting.. The primary issue is the paucity of professionals in this country qualifies to evaluate the necessity for, and interpret the results of, genetic testing.

    Mr. Bode, in a January 2, ’07 blog, documented that at the time there were only 504 MD, MD/PhD geneticists in the country. Based upon NYS Dept. of Health documents, there were only 45 registered genetic counseling centers in the State. There were 25 MD’s, 1 DO, 1 PhD and 5 CGC’s at these sites, as well as a number of individuals with MS, or no indicated certified expertise.. In contrast, the publicity about the significance and value of genetic testing for health studies alone has resulted in an ever-increasing demand for access to this testing. The States are trying to put a bridle on a horse that already halfway out of the open barn door!

    We will never be able to train enough geneticists, MD or otherwise, to fill the void we have today, or for the next 10-15 years. What we need to harness are the computer skills of this Internet age to develop questionnaires to guide individuals seeking DAT’s and narrative information, or explanations, to accompany results. The latter can be taken to the younger MD’s who, I know are getting more genetic training than I did when I went to medical school!
    GT

  15. Jason Bobe on July 15th, 2008 5:09 pm

    Thanks Gene, always nice to hear new voices in the debate.

    @Gene: “What we need to harness are the computer skills of this Internet age to develop questionnaires to guide individuals seeking DAT’s and narrative information, or explanations, to accompany results”

    Two cheers for the web! Makes me think of the consortium Lab Tests Online:

    http://www.labtestsonline.org/

    -Jason

  16. Steven Murphy MD on July 15th, 2008 6:35 pm

    Gene,
    Great points. I love your name BTW! First to clear up any misconception

    @Gene
    “There were 25 MD’s, 1 DO, 1 PhD and 5 CGC’s at these sites, as well as a number of individuals with MS, or no indicated certified expertise..”

    The MS is likely a board eligible genetic counselor.

    As for the questionnaire. I have seen these online….so far none (n=15) of them work well. In addition, some DTC companies have these so called questionnaires…They recommend testing for disease such as Hemochromatosis EVEN WHEN you list your ethnicity as African American. We all know that HFE hemochromatosis is predominantly (read, almost exculsively) a Northern European disease….

    I am therefore dubious of these so called web tools that aren’t subject to regulation or peer review. Would you be ok with a DIY Neurosurgery company? Just because there aren’t enough? No, you would try to train those most skilled to pick up the slack….I.E. surgeons.

    The same is true here….

    But I do wish we could train doctors by the web…maybe that’s the solution. Web based tools for practitioners……..

    -Steve
    http://www.thegenesherpa.blogspot.com

  17. Dan Vorhaus on August 6th, 2008 6:29 pm

    I’m late to this discussion board as well, but that gives me the benefit of seeing the arguments for and against DAT/DTC.

    @Gene: “The primary issue is the paucity of professionals in this country qualifies to evaluate the necessity for, and interpret the results of, genetic testing…We will never be able to train enough geneticists, MD or otherwise, to fill the void we have today, or for the next 10-15 years.”

    I think you identify an important problem, although perhaps I’m more optimistic than you are that it’s an addressable one.

    @Steve: “….some trained individual should be responsible…..unless we are all for complete personal responsibilty for interpretation.”

    I’m generally unconvinced by Steve’s paternalistic approach, even as I agree with him that, at least at first, there may be a relatively small number of individuals seeking DAT/DTC information that are actually able to interpret it for themselves (not sure where the 3% number comes from, but that’s neither here nor there).

    Still, it’s important to return to Jason’s original distinction: that of clinical versus non-clinical application of genetic/genomic test results. I continue to see a reason to require non-clinical users to involve another individual - trained professional or otherwise - in order to access results which are not intended to have a clinical application. And, I think, we’re all on the same page there.

    In clinical applications, I agree with Steve that a “trained individual should be responsible” for aiding in the interpretation of (and clinical decision-making following) genetic/genomic testing but, at least with respect to interpretation, I’m not sure that physicians are the answer. And this, I take it, is more or less Gene’s point.

    I think the risk here is slapping a “PHYSICIAN REQUIRED” band-aid across all of genetic testing, without realizing that the average physician may be little more qualified than many of his/her reasonably well-read and well-prepared patients to interpret DAT/DTC testing. Lets involve professionals where needed, but only where needed, and only the right professionals.

    Finally, as to how we get to qualified genetic professionals, what about focusing the web tools on both patient (pre-screening prior to testing, to ensure basic familiarity with genetic/genomic concepts and the types of data that will/will not be returned) and professional (training modules and minimum competency exams for professionals interpreting tests, some of which might wind up being MDs without additional qualifications)?

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