When the Human Genome Project started in 1990, there were fewer than 100 genes associated with human diseases. Now with the human genetic code fully mapped, there are thousands of diseases and disorders associated with genetic sequences or mutations, along with genetics-based (i.e., “personalized”) approaches to disease prevention, detection, and treatment. There are genomic applications in pre- and postnatal testing and rare diseases, sequencing of tumors to develop targeted therapies, and the use of germ line variations to better understand the potential efficacy and risks from some pharmaceuticals.
While beneficial in many regards, genomic data is no panacea. Genetic tests promise to give consumers a competitive advantage over the disorders that lay dormant but ready to strike. Yet the hype surrounding genetics fuels an increasingly “at-risk” society that fortifies a rapidly growing industry in which genetic testing and biomedical surveillance is increasingly routine. Customers can order a personalized genome kit for just $99. More targeted testing ranges from $1,400 to $4,000, not always covered by insurance, and the industry often fails to give patients the resources to deal with their test results and make informed choices.
Add to this, that most diseases do not result from a single genetic cause but instead from a combination of genetic, hormonal, environmental, and social factors making it difficult to know what to do with genetic information. Yet the desire to feel in control of one's health impels some toward genetic testing even if the jury is still out on what the results will actually provide.
Sharlene Hesse-Biber's new book Waiting for Cancer to Come offers insight into the complexity of living in a genomic age. She tells the stories of women at higher than average risk for breast and ovarian cancer due to genetic mutations, interviewing 64 women who tested positive for mutations on the so-called breast cancer (BRCA) genes (known to increase overall lifetime risk of breast cancer in women and men in addition to ovarian, prostate, pancreatic, and testicular cancers). Not everyone who inherits mutations in these genes develops cancer. But, increasing their odds, many of the women also had a very strong family history of cancer together with a blood relative who either died from the disease or tested positive for one of the mutations.
Hesse-Biber's interviewees were worried about their cancer risk from a young age. The National Cancer Institute advises people with mutations on the BRCA genes (and others) to practice “healthy behaviors” and have access to monitoring, prophylactic surgeries, and chemoprevention. But these options do little to reduce cancer anxiety. Those with confirmed (or sometimes suspected) genetic mutations live in a state of waiting.
The women in this book sought information about genetic testing later in life when they felt more equipped to handle it, and their decisions were more elaborate than simply evaluating statistical probabilities and odds ratios. Women's detailed accounts of how they prepared for the tests, made sense of the results, and made decisions about what to do with the information and cope with the aftermath, open a window into the beliefs and experiences of genetic testing and its impact on people's lives, families, and futures.
More genetic information, for example, did not always result in certainty, empowerment, or clear decision-making. Even test results thought to be desirable, such as “no detectable alteration” or “unlikely alteration” accompanied the caveat that other “bad genes….not yet identified” may impact risk. Genetic tests also did little to reduce the guilt associated with feeling bound by blood to one’s family tree.
Clearly, there is a place for genetic testing for personal and clinical decision-making. Women diagnosed with breast cancer at younger ages, for example, are more likely to have a genetic mutation, and genetic mutations may be responsible for more breast cancer cases in Black women than previously known. At this point, however, the lack of clear evidence about what genomic findings mean for the development, progression, and treatment of certain diseases suggests that those decisions will remain uncertain.
Elements of this article were excerpted from a pre-published article on "Waiting for Cancer to Come" and printed with permission from Gender & Society.
Gayle Sulik is a medical sociologist and author of "Pink Ribbon Blues: How Breast Cancer Culture Undermines Women's Health." More information is available on her website.
© 2015 Gayle Sulik, PhD ♦ Pink Ribbon Blues on Psychology Today