Breast Cancer Action (BCA) is a nonprofit grassroots organization of people who are willing to take the actions necessary to end the breast cancer epidemic, as well as people who have been diagnosed with breast cancer and their supporters. Our mission is to serve as a catalyst for the prevention and cure of breast cancer by working toward three major goals:
- To make breast cancer a national priority through education and advocacy.
- To promote and refocus research into the causes, treatment, cure, and prevention of breast cancer.
- To empower both women and men so they can participate fully in decisions relating to breast cancer.
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The discovery in 1994 of a breast-ovarian cancer susceptibility gene, known as BRCA11, led quickly to the development of tests for the presence of gene alterations potentially associated with breast cancer. At the same time, additional discoveries related to BRCA1, such as the discovery that a mutation known as 185delAG may be present in 1 percent of Jews of Ashkenazi descent, led to calls for large, population-based screening studies related to the gene.2
The existence of and pressure for genetic tests, and the likelihood that they will be commercially available for clinical use in the very near future,3 raises critical issues for people affected by breast cancer, their families, and society at large. In an informal survey that BCA conducted of its members at the close of 1995, 206 (67.1 percent) of 307 respondents indicated that they would undergo genetic testing if it were available. Of the total respondents, well over 50 percent believed that multiple issues, including insurance coverage for the cost of the tests,4 effective options to prevent the development of the disease,5 availability of counseling for those taking the test,6 confidentiality of test results,7 and availability of insurance coverage for those found to have a genetic alteration,8 needed to be resolved before testing became generally available. Those considering being tested for BRCA1 (or any other breast cancer genes) are entitled to be fully informed about the implications of the tests before they agree to undergo them.
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Medical Issues
The BRCA1 gene is present in everyone. When it functions normally, it is thought to suppress the growth of cancerous cells in the breast.9 However, certain alterations or mutations of the gene may create an increased susceptibility for breast and/or ovarian cancer. As of January 1996, more than 100 mutations of the BRCA1 gene had been identified by researchers.10 The implications of these discoveries are not yet known: Do they increase the risk of breast cancer, or are they simply associated with an increased risk? Are some of these mutations unrelated to increased risk of breast cancer? Equally important, it is not known whether all breast cancers are related in some way to BRCA1.11 Also unknown is whether and to what extent the genetic mutations that have been identified as associated with breast cancer are inherited, as distinct from resulting from environmental or developmental factors.
Most commercial enterprises that currently market genetic tests do so without gaining clearance from the Food and Drug Administration.12 Those contemplating being tested for BRCA1 mutations must be told whether the test to be used has been approved by the FDA, and that without such approval, there is no assurance that the laboratory tests will be performed properly.
Women (and men) contemplating genetic testing are entitled to know other important uncertainties associated with the test results. They are entitled to know that a positive test result does not mean that they will get breast cancer, and that a negative test does not mean that they will not develop the disease. A woman with no BRCA1 mutations still faces a 1 in 8 chance of developing breast cancer in her lifetime.
There is currently no known effective method for preventing breast cancer, even in those known to have a genetic mutation that predisposes them to developing the disease. Prophylactic mastectomy does not prevent breast cancer, since breast tissue remains even after this drastic surgery.
Nor is there any clearly appropriate medical care for people known to have a genetic predisposition to breast cancer. Women with a BRCA1 mutation associated with an increased risk for breast cancer are more likely to develop the disease at an early age, but regular mammography has not been shown to be effective in reducing breast cancer mortality in women under 50.13 There are no effective means for truly early detection of breast cancer, and the availability of genetic testing serves only to highlight the need for more research in this area.
People contemplating genetic testing must be informed of these facts before they agree to be tested.
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Psychological Impacts
Little research exists on the psychological impact of being told that your genetic makeup renders you susceptible to a life-threatening illness. The knowledge that you carry a gene that may predispose you (and your children) to cancer cannot be given back, and may have devastating emotional consequences. Those contemplating genetic testing for breast cancer, the most common cancer in women, must have access to education and counseling that will help them evaluate and cope with the impact of the test and its results. Testing conducted without access to adequate education and counseling, both before and after the test, should not be permitted.
Genetic testing has implications not only for the person being tested, but also for that person’s relatives, including children of all ages. These implications must be fully explained to and explored with anyone contemplating testing before a test is conducted, and the affected relatives must have an opportunity to receive education and counseling as well.
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Insurance and Job Discrimination Issues
Genetic testing for a possible predisposition to breast cancer raises issues of confidentiality and insurance/employment discrimination. Anyone contemplating being tested for BRCA1 mutations must be fully informed about these issues before the test is administered.
While some states have laws that guarantee privacy protection of genetic information,14 neither the federal government nor the vast majority of states provides such guarantees. Therefore, anyone contemplating having a genetic test done who wishes to know the outcome must be told whether and to what extent the information will be available to third parties.
Lack of confidentiality of test results raises the real possibility that a person who tests positive for a BRCA1 or other genetic mutation will be denied health, life, or disability insurance, or will be charged a higher premium for such insurance. Representatives of the health insurance industry have made it clear that they consider genetic susceptibility information to be a vital part of the underwriting process.15 Without legislation that prevents discrimination based on genetic information,16 anyone tested for a genetic predisposition to breast cancer must be informed that she or he may be denied or lose health insurance coverage, as well as life insurance and disability insurance coverage. Even in states where legislation prohibits discrimination by insurance companies based on genetic information, people whose insurance coverage derives from self-insured employers must be told that the state legislative protections in place may not apply to them.
Nonconfidential genetic testing also raises the possibility of discrimination in employment based on a positive test for a breast cancer susceptibility genetic mutation. While current law prohibits discrimination in employment based on a perceived disability,17 that law does not apply to all employers, and has not been interpreted by any court as yet to prohibit discrimination based on susceptibility test results.18
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Summary
The array and number of unresolved issues related to genetic testing for susceptibility to breast cancer make compelling the need for written informed consent prior to such testing or to the release of the results of such testing to third parties. No one should be tested without access to education and counseling concerning all benefits and risks of genetic susceptibility testing, both before the test is administered and on an ongoing basis after the results are known. Legislative measures are needed to protect those who choose to be tested against discrimination by insurance companies and employers. Breast Cancer Action believes that all of these guarantees are important to all who are considering being tested for genetic susceptibility to breast cancer, and that they must be in place before testing for breast cancer susceptibility genes takes place, whether in a research or clinical setting.19
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1 Futreal PA, Liu Q, Shattuck-Eidens, D. et al. “A Strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.” Science 1994; 266:66-71.
2 “BRCA1 — Lots of Mutations, Lots of Dilemmas,” editorial, New England Journal of Medicine, Jan. 18, 1996, p. 188.
3 See “BRCA1 Genetic Susceptibility for Breast and Ovarian Cancer: A Reference for Healthcare Professionals in Anticipation of BRCA1 Genetic Susceptibility Testing,” Myriad Genetics Laboratories, Inc., January 1996.
4 183 respondents (62.5%).
5 214 respondents (69.7%).
6 209 respondents (67.8%)
7 216 respondents (70.4%)
8 249 respondents (81.1%)
9 See “Breast Cancer Research Advance: Same Gene, Depending on Mutation, Can Fight or Cause Tumors,” San Francisco Chronicle, March 1, 1996.
10 “BRCA1 — Lots of Mutations, Lots of Dilemmas,” editorial, New England Journal of Medicine, supra, p. 186.
11 “BRCA1 — Lots of Mutations, Lots of Dilemmas,” editorial, New England Journal of Medicine, supra, p. 187.
12 “The Hazards of Genetic Testing,” Harvard Women’s Health Watch, January 1996.
13 Women who carry a BRCA1 mutation may be advised to have frequent screening mammograms to facilitate “early detection.” Women who carry both the BRCA1 mutation and a mutated ataxia-telangiectasia (ATM) gene, however, may increase their risk of developing breast cancer by having frequent mammograms. Ataxia-telangiectasia is a rare recessive genetic disorder whose victims usually die in their teens or early 20s. Women carriers of the ATM gene who do not have the disease have up to a fivefold increased risk of breast cancer, as compared to the “normal” population. Concerns have been raised that ATM gene carriers are more sensitive to radiation exposures and therefore at higher risk of radiation-induced cancer. (“Gene Found for Fatal Childhood Disease, Ataxia Telangiectasia,” NIH News, June 22, 1995.) For women who have a mutated BRCA1 gene and the ATM gene, frequent radiation in the form of mammograms may cause breast cancer rather than guarantee “early” diagnosis.
14 See, e.g. California Health & Safety Code, § 1374.7; Colorado Title 10, Art. 3, Part II, § 10-3-1104.7; Florida, FL ST: 760.40.
15 “BRCA1 Mutation Finding Draws Attention to Potential Perils of Genetic Testing,” The Cancer Letter, Vol. 21, No. 38, October 6, 1995. At least one major health insurance company is already denying coverage to individuals who have a family history of breast cancer and “fibrocystic breast disease,” a nonexistent “disease” that is actually a number of noncancerous (or precancerous) conditions that affects the vast majority of women at some point in their lives. Love, S., Dr. Susan Love’s Breast Book, Chapter 6 (2d Edition, Addison-Wesley 1995.
16 See, e.g. California Insurance Code, §§ 10123.3, 10140, 10148, 10149, 10149.1, 11512.95; Colorado Title 10, Art. 3, Part II, § 10-3-1104.7; Minnesota S.F. No. 259; New Hampshire NH ST: Chapter 141-H; Ohio OH ST: §§ 1742.42, 1742.43, 3901.49, 3901.491, 3901.50, 3901.501.
17 Americans with Disabilities Act of 1990, 101 US Code §933.
18 The Equal Employment Opportunity Commission has interpreted the ADA as making such discrimination unlawful, but the EEOC’s interpretations do not have the force of law.
19 Breast Cancer Action acknowledges the outstanding work of the Massachusetts Breast Cancer Coalition on the issues related to genetic testing for the BRCA1 gene, reflected in the coalition’s position paper “What You Need to Know Before Considering Genetic Testing for Heritable Breast Cancer.”
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