Discovery of breast cancer gene not without cost
Key issue: Knowledge does not prevent disease
A little knowledge can be a dangerous thing in the minds of a cancer patient, so dangerous that medical ethicists are searching for ways to protect patients from themselves.
Two years after the announcement that scientists had isolated mutations in two genes, BRCA 1 and 2, linked to hereditary breast cancer, medical professionals are having to carve out a new standard for informed decision making.
"It is not clearly beneficial for a woman to know if she is carrying the breast cancer gene," says Henry T. Greeley, JD, professor of law at Stanford (CA) University Law School, and director of the Stanford Center for Biomedical Ethics. "For health care providers to assure that these women have true informed decision making, there must be good counseling before and after testing."
The dilemma arises because the genetic test tells the patient whether she carries the genes, but that knowledge does not prevent the disease.
Psychosocial repercussions could potentially come out in family relationships and in patients’ interaction with employers and health insurers, says Greeley. The social risks involve breeches of confidentiality and actual denial of health insurance to patients with a genetic predisposition to cancer. The federal government is taking steps to minimize this risk. (See related story, p. 9.)
Beyond privacy and discrimination risks, however, are severe threats to family relationships. "Knowing a woman is carrying the breast cancer gene has an enormous impact on her relationship with her husband, her parents, her sisters, yet we have paid little attention so far to the ramifications," he warns.
Greeley co-chairs a working group on genetic testing for breast cancer susceptibility that issued a report in late November 1996. (See summarized list of recommendations, p. 8.) More than 60 professionals from diverse backgrounds, along with members of the public, participated in the discussion of the consequences of genetic testing for both breast and ovarian cancer susceptibility.
A key recommendation was that only centers with staff trained specifically to deal with psychosocial consequences consider offering the screening. If your hospital, or an oncologist at your hospital, is contemplating offering breast cancer genetic screening to patients, make sure you have staff who are trained and competent in genetic counseling. "Whoever is in charge must present an integrated program that includes significant follow-up, regardless of the test results," contends Greeley.
"It is unethical to administer this test without knowing how you will protect the patient before it is done," echoes Barbara L. Weber, MD, associate professor of medicine and genetics and director of the breast cancer program at the University of Pennsylvania in Philadelphia and one of the premier researchers into BRCA 1 and 2.
Every year, nearly 185,000 Americans are diagnosed with breast cancer and 45,000 die from the disease. The emergence of BRCA 1 and 2 has given rise to the old adage, "Ignorance is bliss." Greeley notes that the majority of patients with Huntington’s disease do not choose to find out if they are predisposed before the onset. "People do not deal with probables well," he says.
"It is difficult to know how to help the patient make an informed choice when the state of knowledge is so far from exact," says Weber. "What does the knowledge of having the gene tell a woman? We still do not know how to prevent the onset of breast cancer or to decrease the risk."
One perplexing ethical dilemma for physicians is whether to recommend preventive surgery. "Some physicians are jumping to the conclusion that this is the best option, but how can you tell someone she should have her breast removed when you can’t guarantee that this will keep her from developing breast cancer?" Weber says.
Physicians involved in BRCA testing have concluded that the screening should only be offered to a small group of patients who are at high risk of developing breast cancer because of a family history or their own early onset of the disease. However, patients who do not fall into the high-risk category should not be prohibited from taking the test as long as counseling services are made available, they suggest.
Genetic counseling vital
Genetic counselors can assist patients in a number of ways, says Greeley. For example, he warns that it is vitally important to check family references to a history of breast cancer because people’s memories may not be sufficient to prove risk. Look at survival data for patients who do inherit breast cancer. Assume that all patients and families will be affected by the screening one way or another.
Weber and Greeley agree that the primary question of who should be tested has been largely resolved and that privacy and confidentiality issues involved in breast cancer screening should be weighed in respect to overall problems inherent in the current health care system.
Don’t attempt to do anonymous screening, they urge. "You can’t hide this kind of information. It always leaks out," says Weber. Medical ethics professionals concerned about privacy and discrimination must advocate for antidiscrimination laws, she says.
Finally, Greeley urges ethicists to cautiously analyze the commercial use of the BRCA 1 and 2 test within their own institutions. "Don’t assume that the test is benign by nature," he stresses. "It is not the safety and efficacy of the test that is worrisome. It is the consequences of its use."
You have reached your article limit for the month. Subscribe now to access this article plus other member-only content.
- Award-winning Medical Content
- Latest Advances & Development in Medicine
- Unbiased Content