Back to Front PageVOLUME 6, NUMBER 4
 

Among the myriad benefits of the Human Genome Project are sure to be a spate of new genetic tests. Integrating these tests into the health care delivery system poses a number of challenges, including ethical, legal, financial, and logistical ones. Yet another is the adequacy of governmental oversight of genetic testing, which is the topic of a report from the Secretary's Advisory Committee on Genetic Testing (SACGT), released recently by the Department of Health and Human Services.

There's a lot to be said for this report. The broad principles underlying its recommendations constitute an important step forward in helping to craft national policies that promote the development and use of genetic tests in a scientifically, medically, and ethically appropriate manner. The SACGT report recognizes the importance of protecting individual privacy and the confidentiality of collected data. It recognizes that the "Common Rule" protecting individuals who participate in research should be expanded to cover all human subjects research, regardless of venue or source of funding. And it recognizes that some genetic tests warrant oversight because they pose significant risks.

But, as is often the case, the devil is in the details. As commendable as its overarching principles are, the report as it stands contains a serious weakness: Its definition of "genetic testing" is unacceptably and unworkably broad. In a sweeping statement, the committee's report suggests that genetic tests encompass "the analysis of chromosomes, DNA, RNA, and/or gene products to determine whether an alteration is present that is causing or is likely to cause a specific disease or condition."

The problem with a definition as broad as this is that it fails to acknowledge at the outset the substantive differences that exist among various kinds of genetic tests and among the settings in which they are and will be used. For example, it glosses over the distinction between tests performed for research purposes and those performed in the clinical setting. It also implies that diagnostic tests performed in the course of medical care (e.g., to elucidate an already manifest disease process) should be viewed in the same light as predictive tests performed on asymptomatic individuals or populations. Not all of these scenarios require new regulation and federal oversight. Yet, the Secretary's Advisory Committee report states that "additional oversight is warranted for all genetic tests."

Certainly, an argument can be made for additional federal oversight of genetic tests for heritable mutations that will be used in the clinical setting for predictive purposes in presymptomatic persons. Many more tests of this kind are likely to be available soon and the opportunities for abuse (e.g., breaches of confidentiality, discriminatory employment practices, denial of insurance) are self-evident. Protecting the public from such abuses is, of course, a legitimate function of federal oversight and regulations.

By contrast, what justification is there for additional oversight mechanisms for the diagnostic use of genetic tests already accepted in routine care of patients? In general, diagnostic uses of genetic tests do not pose the special ethical concerns raised by predictive genetic tests. Similarly, I fail to see a justification for additional federal oversight of genetic tests that are used strictly for research purposes, the results of which are already adequately safeguarded from potentially damaging disclosure. Additional oversight would serve merely to impede scientific progress by imposing further costly administrative burdens on this most promising area of investigation; it would not aid in assuring legitimate protection of individual rights.

My concern is that the many positive recommendations offered by the SACGT's report will be for naught unless a crisp, clearly circumscribed, and workable definition of "genetic test" for the purposes of oversight is adopted. In our response to the report, the AAMC offered such a definition: A genetic test is a test that is performed on presymptomatic individuals to determine the presence of a particular heritable gene or DNA of established prognostic significance for purposes of genetic counseling or medical management, or prospectively on population samples for epidemiological purposes.

There's an old saying that "an undefined problem has an infinite number of solutions." An overly-broad definition of genetic testing is tantamount to no definition at all … leaving us with the prospect of an infinite number of regulatory "solutions." The Secretary can spare us all from this unhappy prospect-and from creating more problems than solutions-by adopting the AAMC's clear definition of genetic testing for the purposes of federal oversight.

 

Jordan J. Cohen, M.D.
AAMC President

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