Case Study

The following is a hypothetical case study developed by the Policy Roundtable organizers in consultation with experts in the field. The case study is intended to provide panelists and participants with a reference point for the various roundtable discussions. It is not meant to be an exhaustive exploration of all the issues to be addressed in the series-we hope it will raise interesting questions, and provide continuity over the series.

1996
Mary Jenkins, a 32 year-old single mother, is watching a local television news report on breast cancer. She learns that researchers have recently discovered a gene potentially responsible for inherited forms of breast cancer. A deep voice in the opening trailer reads, "Will you get breast cancer? What if your doctor could predict your chances with a simple test? After all, it may be in your genes…" Mary decides to visit her physician to learn more.

Mary has been treated by the same primary care physician, Dr. Smith, for the past 8 years-ever since graduating from college. Now she asks Dr. Smith, "I saw a news program on breast cancer and now I am wondering if I am at risk for breast cancer. If I am at risk, are genetic screening tests available for me?"

In fact, since the newscast several of Dr. Smith's patients have expressed similar concerns. Dr. Smith is worried about her own ability to counsel her patients in these matters, as she did not receive extensive training in genetic counseling during medical school or residency. Dr. Smith proceeds by asking her about family history of breast and ovarian cancer, to which Mary is unable to answer with certainty. She resolves to ask her mother about this issue. In the meantime, Mary's physician says that several genetic screening tests will probably be available in the next 5 years at the rate that research is progressing. It is unclear how widely available the tests will be, their accuracy, and whether insurance companies will be covering them.

Mary learns from talking with family members that her maternal grandmother died of breast cancer at the age of 55. She vaguely recalls her mother's experience with the disease--her mother had both breasts removed followed by radiation therapy after the discovery of a large malignancy in her breast with lymph node involvement at the age of 40. Mary had been young at the time and did not remember the episode, and her mother was sensitive about her appearance following surgery and had never mentioned it to Mary as she grew up. Furthermore, her mother's sister had also been diagnosed with breast cancer at age 45. With this family history, Mary finds that she is considered to be from a "high risk family", according to guidelines published by the American College of Medical Genetics. Worried, Mary begins to seek out information on the Internet, and spends considerable time learning about some recent research. She wonders if she or her 4 year-old daughter might be at risk. She is also planning to have more children and, wonders if prenatal testing is available.

After visiting her pastor several times and personal introspection, Mary decides to forgo the genetic test which would detect the BRCA mutation in her DNA. She is planning to switch jobs, and the health insurance offered by her new employer may increase her premiums or refuse to cover her if they know of any risk for preexisting disease.

March, 2000
At the age of 36, Mary develops a lump in her breast. She consults her physician, who recommends removal of the lump and testing for the BRCA-1 and BRCA-2 genes. Mary worries about the implications for health coverage for her children, should they also carry the mutation. After all, in addition to their family physician, who would have access to their medical records? Would her children encounter difficulty in finding health insurance as adults because they or their mother carried "the breast cancer gene"?

Despite these misgivings, and out of concern for her own health and that of her two daughters, now ages 5 and 9, Mary goes ahead with the test. She is found to be heterozygous (to carry one mutant copy) for the BRCA1 mutation.

Mary consults with her physician. While surgical removal of the lump is considered, Mary's oncologist also tells her about an experimental therapy undergoing clinical trials in which the mutated BRCA gene is replaced with the normal gene. While the therapy has not been shown to be effective, the academic medical center where the oncologist works is co-conducting the clinical trial with a private company to develop the therapy. The oncologist hopes that the therapy is successful both because it could help patients and because it would mean millions of dollars of revenue for the medical center. Progress has been slow, however, because women have been reluctant to volunteer for the trial for fear of insurance reprisal and privacy breaches. Without enough participants, the trial will grind to a halt.

Mary is averse to the disfigurement which would result from a total mastectomy, but is also wary of the idea of having her own genetic material substituted with foreign DNA. She visits her pastor again for guidance.