The Genetics and IVF Institute

The Genetics and IVF Institute (GIVF), a private reproductive and genetics services clinic, offered BRCA testing using a different approach than GDL or OncorMed. It built BRCA testing as a commercial service and offered it both as an integrated genetic counseling and laboratory analysis for a single fee under one roof as well as a stand-alone laboratory service that could be purchased through any physician. GIVF's service, however, was not useful to everyone as its method of laboratory analysis searched only for the three BRCA gene mutations common among individuals of Ashke-nazi Jewish descent. As such, its laboratory analysis served as an inadvertent gatekeeping mechanism that restricted access differently than GDL's or OncorMed's had.

GIVF was founded in 1984 by Joseph Schulman, a pediatrician and obstetrician who was the only student of Robert Edwards and Patrick Steptoe, the British inventors of in vitro fertilization. It originally focused on providing prenatal genetic testing, in vitro fertilization, and egg and sperm donation and retrieval. By the 1990s, however, it had also developed a large menu of genetic tests, including those for biochemical markers (e.g., alphafetoprotein) and genetic mutations (e.g., Fragile X syndrome, Canavan's Disease, Tay-Sachs Disease, and sickle-cell anemia). GIVF was the first provider of genetics and infertility services to provide both medical care and laboratory testing under one roof: it took the individual through her initial appointment and counseling about the procedure to laboratory analysis and follow-up visits.

With more than 300 employees, GIVF described itself as "the country's largest private clinic offering reproductive and genetics services."50 It certainly had the resources to add another genetic test to its already large menu, and it was also a highly visible and well-established provider with a large clientele of women who might be interested in genetic testing for breast cancer. Company officials were also particularly keen to offer BRCA testing because inherited susceptibility to breast cancer had touched the personal life of its chief executive officer, Joseph Schulman. His wife, her mother, her grandmother, and her great-grandmother, all of Ashkenazi Jewish descent, had had the disease. His wife wanted to be tested, but could find no tests available outside the context of a research protocol.51 In light of Schulman's wife's situation and GIVF's size and resources, it is not surprising that in April 1996 it became the first provider of BRCA testing outside the research context. Because it only tested for the three BRCA gene mutations common among the Ashkenazi Jewish population, the test required little additional infrastructure and was very easy to develop. The institute first offered the test to women affiliated with GIVF and their families. Soon, however, it expanded the service and began marketing it more widely, advertising the test in Jewish newspapers.52

GIVF built its main BRCA-testing system in the image of its other services, as an integrated clinical and laboratory service under one roof. However, GIVF—worried that most clients would not be able to gain access to its clinics in Virginia or Maryland—allowed access to its laboratory analysis services through any physician. Not surprisingly, scientists, healthcare professionals, activists, and bioethicists condemned both of these services, as they felt that GIVF had violated an informal agreement in the genetics community not to provide testing commercially until more research had been conducted. In articles and op-ed pieces published in the New York Times, in the New England Journal of Medicine, and in the Cancer Journal, well-known figures such as Director Francis Collins of the National Center for Human Genome Research, the Stanford University anthropologist Barbara Koenig, the Harvard University biologist Ruth Hubbard, and the NBCC activist Mary Jo Ellis Kahn argued that it was premature to offer testing outside the context of research, particularly when numerous questions remained about the risks posed by gene mutations and the effectiveness of medical management options.53 Jewish organizations also responded to the widespread availability of BRCA-testing services. Hadas-sah, a Jewish women's advocacy organization, issued a policy statement that articulated its commitment to work "with the genetic testing companies, the oncology community and others to combat fear-based and stigmatizing marketing techniques and inappropriate uses of genetic tests in the Jewish community, while reiterating that current knowledge does not provide a mandate for broad-scale testing for individuals outside of a controlled research setting."54 Like the other testing providers, however, GIVF was under no legal obligation to heed these critics or follow the informal requests and recommendations of government, scientific, or professional organizations.

Unlike OncorMed and GDL, which had built testing services that to some extent conformed to the systems proposed by critics, GIVF openly disagreed with the contention that too much was still unknown about the BRCA genes to offer testing in a non-research setting. They argued instead that women deserved to have access to the potentially life-saving technology. In an article in the Cancer Journal, Joseph Schulman and another physician at GIVF, Harvey Stern, wrote:

We feel that prevention is better than cure, that early diagnosis is better than late, and that breast cancer genetic predisposition testing will facilitate prevention, early diagnosis, and improved disease management. It will thus be a powerful force in the struggle to reduce the tremendous morbidity and mortality of cancer. We also are of the opinion that because women die every day of breast cancer, it is an urgent matter to make breast cancer genetic screening available now through physicians to all interested women.55

This rhetoric, which suggested that women had a right to demand access to all health-care interventions that were available, has a long history in the American context. Not only is it connected to the cries of female empowerment discussed earlier in this chapter, but it is also part of a larger effort, which began in earnest during the 1960s, for all patients to take charge of their own health care. Responding to a medical community that had, for decades, been primary decisionmakers in the provision of health care, with physicians sometimes not even revealing medical diagnoses to their patients, a number of physicians and philosophers suggested that patients themselves should be allowed to decide the course of their own health care. In the 1970s and the 1980s, this grew into the bioethics movement, which places considerable importance on patient autonomy and which has played an important role in shaping the provision of bio-medicine and behavior of patients today.56 Finally, the idea that clients can demand access to care is not at all surprising within America's private medical system, where the patient is treated as and acts as a consumer operating in a health marketplace.

GIVF also justified its testing service by noting that it was only providing testing for BRCA gene mutations that had a well-demonstrated relationship with breast cancer "because of the presence of the 185delAG mutation in about 1 in 100 Jewish woman [sic], its known ability to truncate the BRCA1 protein, the high risk of breast cancer in such BRCA1 mutation carriers, and the high proportion of early-onset breast cancer patients in the Jewish population who manifest 185delAG. . . ."57 Schulman and Stern's vigorous defense of their testing service because of its utility for Jewish women highlights an important tension in the development of contemporary genetic medicine. While genetics research and the development of genetic diagnostics and therapeutics targeting close-knit ethnic groups such as the Ashkenazim could be very helpful for the health and medical care of these populations, many critics argue that the development of genetic testing targeted toward particular ethnic groups, particularly in the absence of effective therapeutics, will lead to widespread discrimination.58

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