BRCA, Genetic Testing, and Civil Liberties: It's What Christina Applegate, Oprah, and PBS Are All Talking About
The BRCA (breast cancer) genes have been at the forefront of a lot of conversations these days. All men and women have the BRCA genes, but some of us have hereditary mutations along these genes that have been linked to breast and ovarian cancer. In the Family, a documentary film that premiered on PBS last night, explores the intensely personal question of what to do when you find out that you have a BRCA mutation that drastically elevates your risk for developing cancer. Christina Applegate — who bravely came forward last month about her own breast cancer diagnosis, testing positive for a BRCA1 mutation, and her decision to have a prophylactic double mastectomy — talked with Oprah on Tuesday about these very issues and the overwhelming expense of genetic testing and MRIs. USA Today reported last week that demand for BRCA testing has doubled since 2005 and that more and more parents are having their kids tested, against the advice of clinicians. And Stand Up to Cancer, which launched in early September, has made its mission to bring together a team of cancer researchers who will share new discoveries about genes linked to all forms of cancer and collaborate on finding new methods of prevention and treatment.
Underlying these conversations are the civil liberties concerns posed by the burgeoning field of genetic testing. First, these tests create the potential for new forms of discrimination against people with genetic predispositions for various hereditary diseases. The ACLU has been active in promoting the Genetic Information Nondiscrimination Act (GINA), which was finally, after 12 years of consideration by Congress, signed into law in May. The law is far from perfect, but provides essential baseline protections that will allow individuals to speak more freely about hereditary risks for disease, and to undergo testing if they choose, without worrying that they will be fired by their employers or dropped by their health insurance.
Second, there is the issue of the patenting of human genes. The U.S. Patent and Trademark Office has granted thousands of patents on human genetic sequences, including many associated with hereditary diseases. Genes associated with breast cancer, ovarian cancer, Alzheimer’s disease, Duchenne muscular dystrophy, hereditary hemochromatosis, and some types of asthma, melanoma, and colorectal cancer are just some examples of genes that have been patented. Patent holders have exclusive control over these genes for 20 years, during which time they can prevent anyone else from studying the genes or testing patients for harmful mutations. While the purpose of the patent system is to encourage innovation, the high licensing and diagnostic testing fees that some biotech companies charge for use of “their” genes are inhibiting biomedical research and interfering with patient care. Both Joanna Rudnick (the director, producer, and subject of In the Family) and Christina Applegate have drawn attention to the fact that the BRCA test, offered exclusively by BRCA gene patent owner Myriad Genetics, costs up to $3,000 and is not covered by all insurances, raising issues of access for many women, particularly poor women and women of color. In addition, patents on human genes raise troubling questions about the right of patients to access information about themselves and whether parts of human beings should be patentable at all.
As the 23rd annual National Breast Cancer Awareness Month begins, and as the conversations about BRCA testing continue, let’s bring to the fore a discussion about the fundamental rights to access and freedom from discrimination that are essential in order for women, their doctors, and researchers to work together to combat breast cancer and make the best healthcare decisions.
— Tania Simoncelli and Selene Kaye
