Building Genetic Medicine: Breast Cancer, Technology, and the Comparative Politics of Health Care (review)

The discovery in the 1990s that mutations in genes named BRCA1 and BRCA2 were associated with breast and ovarian cancer quickly led to predictive genetic tests. In Building Genetic Medicine, Shobita Parthasarathy contrasts how BRCA testing evolved in the United States and the United Kingdom. Differences emerged not just in the tests’ diffusion and use but also in their “architecture” and in their meaning for doctors and patients.

In the United States, the Myriad Corporation maneuvered itself to profit from winning the race to sequence the genes. After getting patents for laboratory tests to identify mutations, Myriad successfully crushed its three competitors. Hoping to find the largest market for its fee-for-service product, Myriad did not require testing of affected relatives, counseling, or even physician referral.

In the United Kingdom, by contrast, the National Health Service policy-making process dictated that putative health benefits had to be balanced against costs and that equity and universal access had to be considered. As a result, pretest counseling was required, and predictive testing was limited to family members of someone with a known mutation.

Parthasarathy dives into technical details that are often black boxed in bioethical and political debates. Predictive testing works by examining patients’ DNA for specific mutations. Which mutations are included in tests necessarily depends on prior research that has identified genetic variation and correlated it with signifi- cant clinical outcomes. In the United States, Myriad was able to restrict research uses of BRCA testing, even though research was outside its patent protection, by arguing that its patent covered any test whose results ultimately became known to a patient/subject. Myriad’s maneuvering effectively dampened clinical research, which in turn limited the number of mutations included in its tests. At one point, 10 to 20 percent of mutations identified by Myriad’s tests were classified as “uncertain.” This highly socially constructed “uncertainty” contributed to a new and troubling class of people at “risk of being at risk.” Parthasarathy convincingly argues that Myriad’s marketing practices led to the creation of a disorder, “hereditary breast cancer,” that did not have its exact counterpart in Europe.

Parthasarathy shows the tight fit between the American style of genetic testing and pills to prevent breast cancer. In the United Kingdom, clinicians and policy makers have been much less enthusiastic about chemoprevention. She notes the curious reach of this skepticism to the still incompletely understood divergence in clinical trials, in which efficacy was found in the United States but not in Europe.

Parthasarathy details how Myriad used empowerment rhetoric to expand its U.S. market. Marketing slogans included “knowledge is power” and “choose to do something now.” In the United States, patient advocates were unsure how to respond. Was their role to widen access to testing (consumer choice) or to limit testing in the name of saving money and protecting the public from bad medical choices?

The United States’ and United Kingdom’s BRCA testing did not evolve in isolation from each other. As Myriad pressed its patent claims in Europe, it elicited an organized opposition within a very different regulatory and political environment. The European Union patent process, for example, allows dissenters a public hearing and explicitly recognizes arguments based on an “affront to public order.” There was also a U.K. claim to priority in discovering BRCA2. Other Europeans argued that while Myriad had priority, this was simply the last and most trivial step in a worldwide set of discoveries and tinkering.

Myriad eventually backed down from its initial European patent claims. It ended up licensing a British laboratory to do private testing. But this expensive end run around national health care systems soon failed because “the values and approaches to biomedicine embedded in the company’s testing system conflicted directly with the elements of the British toolkit that developers in that country had used to build its testing...