Genetic Testing and Discrimination: A Cause for Concern?
By Jill D. Brensinger, M.S.

As researchers continue to rapidly identify gene mutations associated with hereditary adult-onset conditions, presymptomatic genetic testing has become available to more and more individuals. Individuals with a significant family history of cancer can now choose to find out if they have inherited a gene mutation that predisposes them to breast cancer, colon cancer, or other cancers. Before consenting to a genetic test, however, it is essential that the person considering genetic testing meet with a genetic counselor and other health care professionals in order to make an informed decision. While genetic testing can be a very positive experience for some individuals, others may discover that the disadvantages of being tested outweigh the advantages.

One of the greatest concerns of individuals seeking genetic testing is the potential for insurance and employment discrimination based on a positive genetic test result. This is an area of genetic counseling that has changed drastically in the past decade, as genetic testing for adult onset disorders has become more widely available. Patients wonder whether an identified susceptibility will be considered to be a pre-existing condition by an insurance company.¹ Ultimately, as genes are discovered for more common medical conditions, many of us will need to grapple with this same concern regarding genetic discrimination.

Both state and federal legislation that begins to address some of the concerns about genetic discrimination by insurance companies and employers has been developed, but the legislation does not protect all Americans and is not complete in its protection.^2,3 Some states have passed laws to prohibit insurers from requiring or requesting a genetic test. In addition, a federal law called the Health Insurance Portability and Accountability Act (HIPAA) was adopted in 1996.⁴ HIPAA prohibits insurance companies from using genetic information as a "pre-existing condition" and from denying or limiting coverage for those in group plans. The law is not helpful, however, for those who are insured individually nor does it prevent companies from raising premiums for the entire group. In addition to this insurance legislation, the Americans with Disabilities Act (ADA) has been interpreted by the Equal Employment Opportunities Commission (EEOC) to protect individuals against employment discrimination based on genetic information.⁵

The responsibility of the genetic counselor is to make the patient aware of the potential for insurance and employment discrimination based on a positive genetic test result. Some patients have chosen to pay for genetic testing themselves rather than billing the cost of the genetic test to their insurance company. They make this choice in hopes that their decision to proceed with genetic testing will be less obvious to insurance companies. Even with this safeguard, however, insurance companies reserve the right to review our medical records and may discover the test result during their review. Due to this concern, some patients choose to obtain genetic testing through research studies in which the gene test results are documented in research charts instead of regular medical records. This provides additional protection and privacy. Even research results are not completely private, however, since insurance companies may begin to ask questions such as "Have you ever had a genetic test, and if so, what was the result?" on applications for health or life insurance.

Ultimately, patients must understand that genetic test results often have major implications in terms of their cancer screening regimen, choices regarding cancer prevention, and even decisions about surgery. Their doctors cannot assist them in making appropriate medical decisions without being adequately informed of genetic test results. Both patients and professionals alike must remember that the reason why many people choose to have genetic testing for a hereditary cancer syndrome is so that they can prevent cancer from developing or detect it at an early stage. Thus, although the concern for genetic discrimination must be considered, the patient must carefully weigh this risk against the potential benefits of genetic testing.

Ms. Brensinger is a genetic counselor with the Hereditary Colorectal Cancer Program at Johns Hopkins Hospital.

References

Billings PR, Kohn MA, de Cuevas M, et al (1992). Discrimination as a consequence of genetic testing. Am J Hum Genet, 50:476-482.
Rothenberg KH (1997). Genetic discrimination and health insurance: a call for legislative action. J Am Med Women's Assoc, 52:43-44.
Rothenberg K, Fuller B, Rothstein M, et al (1997). Genetic information and the workplace: legislative approaches and policy changes. Science, 275:1755-1757.
Health Insurance Portability and Accountability Act, 104 Public Law No. 104-191, 701, 110 STAT, 1936 (1996).
Equal Employment Opportunity Commission. Compliance Manual, Vol 2, Section 902, Order 915.002, p 902-945, 1995.