Medicine and Society
Genetic Testing for Disease Susceptibility: Social, Ethical and Legal Issues for Family Physicians
Am Fam Physician. 1999 Sep 1;60(3):748-755.
See related patient information handout on genetic testing, written by the authors of this article.
As genetic testing for disease susceptibility is incorporated into clinical practice, family physicians will increasingly provide initial genetic counseling and referrals for testing. Genetic testing for disease susceptibility is associated with numerous social, ethical and legal concerns that should be addressed during the counseling process. Informed consent requires discussion of the limitations of the available genetic tests and interventions, implications of test results for the patient and family members, and limits of confidentiality, and discrimination risks. Other issues include regulatory concerns in commercial testing and the existing legal protections against genetic discrimination.
Genetic Counseling and Informed Consent
Genetic factors have been implicated in illnesses such as cancer, heart disease and Alzheimer's disease, which are widespread in the population. However, genetic testing for mutations that may influence disease susceptibility is appropriate only for a relatively few patients who are known to be at high risk. For this reason, testing for disease susceptibility should not be performed until patients have undergone genetic counseling.
Pretest genetic counseling includes risk assessment, discussion of testing alternatives and the predictive value and interpretive limitations of the tests (Table 1). Assessment of risk is based on a detailed family history and estimates of disease risks for specific mutations. Patients must consider any medical benefits provided by testing, the psychologic implications of the test result and the significance of testing for family members. Potential benefits of testing typically include relief of anxiety or opportunities for behavior modification, increased surveillance or interventions that may reduce risk. Drawbacks may include “survivor guilt,” increased anxiety, depression or anger, and possibly discrimination by insurers and employers (Table 2). Whether positive or negative, test results may have implications for major life decisions.
TABLE 1 Guidelines for Pretest Education, Informed Consent and Post-test Counseling
Guidelines for Pretest Education, Informed Consent and Post-test Counseling
1. Obtain an accurate family history and confirm diagnoses before testing.
2. Provide information about the natural history of the condition and the purpose of the test.
3. Discuss the predictive value of the test, the technical accuracy of the test and the meaning of a positive or negative test.
4. Explore the options for approximation of risk without genetic testing.
5. Explore the patient's motives for undergoing the test, the potential impact of testing on relatives and the risk of passing a mutation on to children.
6. Discuss the potential risk of psychosocial distress to the patient and family, even if no mutation is found.
7. Explain the logistics of testing and fees involved for testing and counseling.
8. Discuss issues involving confidentiality and the risk of unemployment and insurance discrimination.
9. Describe the patient's medical options, the efficacy of available surveillance and prevention methods and recommendations for screening if test results are negative.
10. Provide a written summary of the content of the counseling session.
11. Obtain informed consent for testing.
12. Provide tests results in person and offer follow-up support.
Information adapted from Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility. J Clin Oncol 1996;14:1730–6, and Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. JAMA 1997;278:1217–20.
TABLE 2 Benefits and Risks of Genetic Testing
Benefits and Risks of Genetic Testing
Knowledge that may affect future decisions
Opportunities for increased surveillance or risk-reducing behaviors
Strained family relationships
Insurance and/or employment discrimination
Ideally, testing begins with a living family member who has a diagnosis of the disease in question to determine if a responsible mutation can be found. In the absence of a known mutation, test results are often ambiguous.
Post-test counseling ensures that test results are interpreted correctly. It is critical that patients understand that a positive test result only reflects a probability. It does not mean that disease will inevitably occur, just as a negative test result does not guarantee that disease will not develop.
Patients should be aware that genetic information may be requested by third parties, including family members, insurers, employers or other physicians. Candidates for genetic testing must understand that complete confidentiality may be difficult to ensure and that disclosure of genetic information to employers and insurers may have discriminatory consequences.
Confidentiality is also a concern when blood or tissue samples will be stored and used for future research. Each patient should be informed how samples will be identified, the conditions under which they will be used and whether information about any medically significant findings will be given to the patient.
Commercial genetic testing has recently become available, largely without external regulatory requirements governing either the clinical validity and utility of the tests or the quality of laboratory procedures.1,2
Genetic counseling may not be provided by the testing laboratory. It is the responsibility of the referring physician to ensure that patients who seek testing receive appropriate counseling and have an accurate understanding of their test results. Since the predictive power of many tests for genetic susceptibility is not fully understood and harm may arise from inappropriate testing or misinterpretation of test results, it may be most beneficial to pursue disease susceptibility testing in the context of research approved by an institutional review board.3,4
Insurance Discrimination and the Law
Several studies suggest that discrimination has occurred on the basis of genetic information, both from insurers and employers,5,6 and that fear of discrimination may influence individual decisions about whether to be tested.7 Recent federal and state legislative efforts have begun to address the risk of discrimination. As of this writing, the strongest existing federal legislation is the Health Insurance Portability and Accountability Act of 1996 (HIPAA).
The HIPAA explicitly states that a pre-symptomatic genetic diagnosis does not qualify as a preexisting condition, thereby offering a degree of protection to some patients seeking presymptomatic testing. However, the HIPAA applies only to those insured under group plans and does not prohibit other discriminatory practices, such as mandatory testing, disclosure of genetic information to third parties, and raising premiums or setting caps on insurance if these conditions are equally applied to all persons enrolled in the plan.
Many state legislatures also have passed laws to govern health insurance and protect individuals' rights to privacy. In general, these laws define what counts as “genetic information,” prohibit insurers from engaging in discriminatory practices based on that information and require patients' written informed consent before disclosure of test results to third parties. The primary loophole in the state laws is the definition of genetic information, which is usually limited to the results of DNA, RNA, or chromosomal analysis. However, genetic information may also be contained in a patient's medical record, family history and laboratory test results, to which the laws may not apply. Moreover, employer-based group plans are exempt from state regulation.
Genetic discrimination may also be experienced in the workplace. The strongest federal protection against employment discrimination is offered in the 1995 interpretive guideline of the Equal Employment Opportunity Commission, which claims that persons with genetic predispositions are protected from discrimination under the Americans with Disabilities Act.8
Genetic testing for disease susceptibility offers new benefits and medical opportunities for high-risk patients, along with new opportunities for harm. To ensure that testing services are used appropriately, careful, comprehensive genetic counseling is essential before and after testing. Family physicians must be able to recognize and refer patients for whom disease susceptibility testing may be beneficial, and they must be aware of the social, ethical and legal concerns that accompany testing.
1. McGovern MM, Benach MO, Wallenstein S, Desnick RJ, Keenlyside R. Quality assurance in molecular genetic testing laboratories. JAMA. 1999;281:835–40.
2. Holtzman NA, Watson MS, eds. Promoting safe and effective genetic testing in the United States: final report of the Task Force on Genetic Testing. Baltimore: Johns Hopkins University, 1998:48–55.
3. National Advisory Council for Human Genome Research. Statement on the use of DNA testing for presymptomatic identification of cancer risk. JAMA. 1994;271:785.
4. Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet. 1994;55:i–iv.
5. Geller LN, Alper JS, Billings PR, Barash CI, Beckwith J, Natowicz MR. Individual, family, and societal dimensions of genetic discrimination: a case study analysis. Science Engineering Ethics. 1996;2:71–88.
6. Billings PR, Kohn MA, de Cuevas M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic testing. Am J Hum Genet. 1992;50:476–82.
7. Lapham EV, Kozma C, Weiss JO. Genetic discrimination: perspectives of consumers. Science. 1996;274:621–4.
8. U.S. Equal Employment Opportunity Commission. Directives Transmittal No. 915.002. March 14, 1995.
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