Correspondence

Generic Consent for Genetic Screening

N Engl J Med 1994; 331:1024-1025October 13, 1994

Article

To the Editor:

The Sounding Board article by Elias and Annas (June 2 issue)1 calling for enforceable regulation of genetic screening champions ignorance over knowledge and demonstrates incredible arrogance.

The current problem with genetic screening is that we have no data on the consequences of screening for an overwhelming number of defects that we either can screen for now or anticipate being able to screen for soon. To believe that we can anticipate these consequences without actually performing the basic experiment of testing and monitoring the outcome is ridiculous. For each gene we screen for there is likely to be a mixture of costs (financial and otherwise) and benefits, which in many cases will depend on the views of the person tested and vary among population groups.

Burdening us all with a system of “enforceable” standards derived by the guesswork of vested-interest groups such as medical geneticists and ethicists will keep us ignorant by delaying the gathering of information needed to make these kinds of determinations. If medical geneticists and ethicists like the authors put their controls in place, they or their peers will receive benefits in the form of professional fees, research awards, publications, and fees to support the regulatory bureaucracy.

The authors demonstrate their arrogance when they assert that they or a small group of “experts” are more qualified to decide for everybody (“the public”) what problems are important enough to warrant termination of a pregnancy rather than allowing the people affected a choice.

Robert J. Wells, M.D.
Children's Hospital Medical Center, Cincinnati, OH 45229-3039

1 References

1
Elias S, Annas GJ. Generic consent for genetic screening. N Engl J Med 1994;330:1611-1613
Full Text | Web of Science | Medline

To the Editor:

Elias and Annas describe how the expansion of genetic-testing capabilities will severely strain existing financial and personnel resources and propose an alternative to the model of pretest counseling with specific informed consent.1 Although the expansion of services to cover large numbers of tests is problematic, the recommendation to dispense with specific informed consent is misguided.

The proposal by Elias and Annas frames a false dichotomy between testing with “misinformed” consent and testing with generic consent. This dichotomy exists only if it is assumed that all (or many) tests should be implemented. We agree that the issue of the availability of specific tests should be decided at a public-policy level and that professional guidelines about genetic testing are necessary. However, we should analyze the resources that would be required to deliver those tests in a manner that preserves well-established principles of patient autonomy and informed consent2 and select only tests that can be implemented in a manner that maintains those principles. The development of this type of deliberative prospective decision-making process would be challenging but would lead to a more rational implementation of new forms of genetic technology.3 The alternative is a system that is driven primarily by technological capability instead of one based on established principles.

People should decide whether potential test results will be important to their personal decisions on the basis of specific information about the diseases for which testing is being considered. A generic-consent model would draw patients into the prenatal testing process with an incomplete understanding of what is involved. This policy would have the undesirable effect of diminishing the opportunity to decline testing, which may be the best option for some patients. As a result, such patients may have to make decisions on the basis of information that they otherwise would have chosen not to acquire.

The adoption of a generic-consent model for a broad array of tests would be an abdication of responsibility by the medical-genetics and genetics-counseling professions. It is an admission that because we cannot maintain the principles of patient autonomy and informed consent when challenged by new forms of technology, we will instead simply lower our standards.

Leslie G. Biesecker, M.D.
National Center for Human Genome Research, Bethesda, MD 20892

Benjamin S. Wilfond, M.D.
University of Arizona Health Sciences Center, Tucson, AZ 85721

3 References

1
Elias S, Annas GJ. Generic consent for genetic screening. N Engl J Med 1994;330:1611-1613
Full Text | Web of Science | Medline

2
Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. Assessing genetic risks: implications for health and social policy. Washington, D.C.: National Academy Press, 1994.

3
Wilfond BS, Nolan K. National policy development for the clinical application of genetic diagnostic technologies: lessons from cystic fibrosis. JAMA 1993;270:2948-2954
CrossRef | Web of Science | Medline

Author/Editor Response

The authors reply:

To the Editor: As the Institute of Medicine's Committee on Assessing Genetic Risks recently noted,1 “In the future, genetic testing is likely to be provided in groups of tests. The prospect of multiplex testing will undoubtedly create new challenges for the genetic counselor, once tests are available that can detect multiple genetic traits in an individual at one time.” The committee did not attempt to deal with the consent issues involved in multiplex testing, but our proposal does.

As discussed in detail in our article, our approach envisions emphasis on “broader concepts and common-denominator issues in genetic screening.” We compared consent to such multiplex genetic screening with consent to a physical examination, noting that patients in this case grant permission for a panel of screening tests (without knowing the details of every one of them). The critical thing patients must know to make an informed decision about a physical examination is “that the purpose of the examination or test is to locate potential problems that are likely to require additional follow-up and that could present them with choices they would rather not have to make.” We also recommended that the medical profession, with the public's help, take the lead in setting genetic-screening standards, noting that “if the profession fails in its leadership role,... the courts will set the standard on their own.”

Dr. Wells's emotional response is not a serious attempt to confront generic consent. To the extent that he is concerned with the related issue of enforceable standards, however, he should understand that the only question is who sets such standards, not whether they will be set, as Drs. Biesecker and Wilfond recognize in their response.

Drs. Biesecker and Wilfond themselves, however, are less enthusiastic about our generic-consent proposal, but we think this is primarily because they misread it. We all seem to agree that self-determination and rational decision making should be protected. The question is how to do this in the real world of proliferating genetic-screening tests. They accuse us of offering a false dichotomy and assert that it exists only if multiplex testing is implemented. We agree that a third way out of the consent dilemma is to ban or outlaw multiplex genetic screening; however, our view is that such an approach is unnecessary overkill, because we believe our generic-consent model can preserve the values of self-determination and rational decision making in an era of multiplex screening.

The respondents also seem to confuse consent issues in testing with those in screening. Of course people at higher-than-normal risk of a specific genetic condition should have full information about that condition before agreeing to be tested for it. But for population screening for multiple conditions, such disclosures are unnecessary and turn the consent process into a hollow ritual in which screenees receive vast amounts of information, most likely in the form of written materials or videotapes. It is such information overload, not our proposal, that attempts to shift responsibility from the individual practitioner and the genetics community to the individual patient.

Sherman Elias, M.D.
Baylor College of Medicine, Houston, TX 77030

George J. Annas, J.D., M.P.H.
Boston University Schools of Medicine and Public Health, Boston, MA 02118

1 References

1
Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. Assessing genetic risks: implications for health and social policy. Washington, D.C.: National Academy Press, 1994.

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