September 29, 1995

Dianne Feinstein, California.  co-chair Connie Mack, Florida.  co-chair

Testimony of:

Caryn E. Lerman, Ph.D.

Associate Professor, Georgetown University Medical Center, Washington, D.C.

In Summary Psychological impact of genetic testing raises a host of unanswered questions. The results of the limited studies to date indicate that the psychological needs of person coping with test results showing a predisposition to cancer may be significant. Even "negative" results--those not indicating presence of a genetic factor causing predisposition--may have deleterious psychological impacts.

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Advanced in molecular genetics offer unprecedented opportunities for high risk individuals to learn whether or not they carry a mutation in a cancer-predisposing gene. Individuals from high risk families who learn that they do not have a mutation in such a gene may be relieved of persistent worry and of the need for intensive surveillance. Individuals who learn that they do have a mutation potentially can benefit from increased screening, medical intervention, and changes in behaviors to reduce their risk.

While these potential medical and quality of life benefis are significant, the imminent availability of this new technology raises questions and concerns that must be addressed prior to the widespread use of these tests. What information do individuals need to have in order to make informed decisions about whether to have a genetic test for cancer susceptibility? Among those who decide to be tested, what are the psychological and social risks associated with the knowledge of ones own genetic status? Given that the potential for discrimination on the basis of genetic status is one of the most serious social risks, what safeguards must be in place to protect carriers of cancer-predisposing genes from losing their employment or insurance? These issues are addressed below, using empirical data when available.

Recent studies suggest that interest in genetic testing for cancer susceptibility is high in the general population and among individuals at high risk. For example, 91% of women who had a mother, sister, or daughter with breast cancer reported that they would want to have a genetic test for breast cancer susceptibility when it is available. In an ongoing study in which BRCA1 testing (a breast cancer susceptibility gene) is being offered to members of hereditary breast-ovarian cancer families, 71% of individuals decided to receive their test results.

These genetic testing decisions may be based on misunderstanding of the benefits and limitations of these tests. In a recent study of women at low to moderate risk of breast cancer, two of the most widely cited reasons for wanting BRCA1 testing were "to be reassured" and "to learn about my childrens risk". While these benefits of genetic testing may be accrued by members of high risk families, this is not necessarily the case for other individuals. For example, for a woman at low to moderate risk of breast cancer, a negative BRCA1 test result would not decrease her risk status or that of her children. Breast cancer could still arise from mutations in other genes or from mutations occuring in breast cells over a womans lifetime. All women who would test negative for BRCA1 mutation would still carry a minimum risk of about 10%, which is the population risk of breast cancer. Another motivation for BRCA1 testing is to have preventive strategy if the test result is positive; this was reported by 88% of women in an ongoing study. However, fewer than one-half of these women were aware that having ones breast of ovaries removed will not definitely prevent cancer. To make informed decisions about genetic testing for cancer susceptibility, individuals must weigh the potential benefits against the limitations and risks of these tests.

Health care providers may be ill-equipped to educate their patients about the benefits, limitations, and risk of genetic tests for cancer susceptibility. In light of the current national shortage of genetic counselors and the fact that gene tests for cancer susceptibility are being marketed aggressively to physicians, there will be increasing pressures for primary care providers to offer genetic testing in their clinical practices. However, many of these providers have limited knowledge about cancer genetics. In a recent assessment of knowledge about genetics in over 1,000 primary care physicians, the average percentage correct was only 73%. This is not surprising considering that little attention is given to genetics in most medical schools. To address this, the American Society of Human Genetics has called for a major initiative to educate primary care providers, most of whom have little or no experience in genetic testing.

In order to educate providers and to ensure that consent for testing is informed, the scientific community needs to gather additional data about the possible risks of testing. One area of intense investigation concerns the psychological risks of learning that one is a carrier of a mutation in a cancer-presiding gene. Anecdotal data from BRCA1 testing programs suggest that this knowledge may create a significant emotional burden. Adverse psychological effects have even been observed among high risk individuals who test negative for mutations in cancer genes. These reactions include continued worry about developing cancer and guilt that one has been spared from a fate shared by many other family members. Empirical data from well-designed genetic testing trials are urgently needed to assess the level of risk of adverse psychological effects and to identify individuals who may be most vulnerable.

To address this, the National Center for Human Genome Research, The National Cancer Institute, and other institutes within the National Institutes of Health have funded several sites around the country to conduct this research. Strategies for informed consent, pre-test education , and genetic counseling are being rigorously tested in these studies can inform the development and dissemination of clinical protocols for genetic testing for cancer susceptibility. However, outcome data from these studies are not yet available, and thus, the psychological risks of genetic testing for cancer susceptibility are as yet unknown.

Also necessary for an informed consumer choice is a realistic appreciation of the social risks associated with genetic testing. One of the most important of these risks is the potential for genetic discrimination. This is perhaps the most pressing ethical, legal, and social issue. Once an individual receives a genetic test for cancer susceptibility, this information becomes a permanent part of his/her medical history. The specific concern is that individuals who are found to have mutations in cancer-predisposing genes will be denied employment or access to affordable health insurance. The Americans with Disabilities Act (ADA) now provides some protection in the workplace for individuals at increased genetic risk for disease. However, the potential for discriminatory practices in health insurance still looms large. One survey conducted by the Office of Technology Assessment (OTA) of the U.S. Congress found that three-fourths of insurance company executives agreed with the statement "an insurer should have the option of determining how to use genetic information in determining risk". Fourteen percent of genetic counselors reported having patients who had difficulty acquiring or maintaining insurance after genetic testing.

This possibility of discrimination in health insurance creates difficult conflicts for consumers and providers. Lack of health insurance coverage may be a significant barrier to receipt of genetic testing for cancer susceptibiltiy. In a study of high risk individuals offered BRCA1 testing, 72% of persons who had health insurance decided to receive their results while only 43% of uninsured individuals decided to do so. Among the 55 individuals who elected to receive the results, none of them has shared this information with their insurance companies thus far. However, if an individual is asked to disclose information about his/her genetic status on an insurance application and fails to do so, future claims for medical services related to that genetic predisposition may be denied. In some cases, physicians may disclose genetic information to insurance companies, without their patients permission or knowledge. A survey of medical geneticists found that 24% of providers said they would disclose genetic information to employers and 12% would disclose to insurance companies, without the patients permission and even if the patient refused.

The potential for insurance discrimination may reduce the chances that carriers of cancer-predisposing genes will avail themselves to medical interventions. For example, one woman found to have a BRCA1 mutation and a significantly elevated risk of ovarian cancer decided not to have a prophylactic oophorectomy (preventive removal of the ovaries) because she was concerned that if she pursued the claim with her insurance company, her children might become uninsurable. This is not likely to be an isolated incident. In an ongoing study, 10 out of 68 of women from hereditary breast-ovarian cancer families (15%) indicated that insurance concerns ahd influenced their decisions about whether to obtain preventive surgery.

To address the issue of genetic discrimination, it has been reccommended that federal legislation be passed to prohibit insurance providers from: (a) requesting or requiring collection of genetic information, and (b) using genetic information to establish eligibility for enrollment or continuation of insurance, or to determine premium payments.

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