Chapter 4 begins to lay the groundwork for Topol’s thesis that individuals should have access to their genetic data unrestricted by FDA regulation or physician order. But first, he starts with an extended anecdote about Angelina Jolie, the actress and philanthropist, of whom he is clearly a BIG fan. (Have I mentioned that she’s beautiful yet in this paragraph?)
In 2013, Jolie published an op-ed in the New York Times where she disclosed that she had recently undergone a prophylactic mastectomy after discovering that she was a carrier for a BRCA1 mutation that gave her an estimated 87% risk of breast cancer. BRCA1 and BRCA2 mutations account for approximately 5-10% of all breast cancers and about 20-25% of hereditary breast cancers. Jolie’s mother’s long battle with breast cancer and death at age 56 was the impetus for Jolie’s investigation into her own risk. Jolie’s disclosure sparked a run on testing for BRCA1/2 mutations and increased awareness about the role of genetic testing in determining risk of disease. Importantly, it also was a demonstration that an individual could use their own data to make changes that alter their risk. Jolie’s op-ed:
“symbolized the new era of medicine, whereby access to critical information about oneself – in this case genomic information – leads to the individual’s empowerment to make a pivotal choice that determines one’s fate.”
Topol next turns to the method by which we will all gain access to our genetic data: consumer genomics companies such as 23andMe. 23andMe is a company that offers direct to consumer genetic testing that provides information about risk for a variety of diseases including heart disease, cystic fibrosis, diabetes, cancer, etc.
In 2013, the US Food and Drug Administration sent them a cease and desist letter stating they didn’t have approval to market their product. This faceoff between the FDA and 23andMe was framed as a showdown between the paternalistic medical establishment who wants to hoard all genetic data for themselves and the individual’s right to their own genetic information as provided by Robin Hood–like private companies who only have the patient’s best interests at heart. I find this argument a bit simplistic and think there is a way for individual genetic information to be provided to patients in a way that is appropriately regulated.
To close the chapter, Topol returns to the BRCA story. In the old days of genetic testing, it wasn’t uncommon for newly identified genes to be patented. In fact, 40% of our genes were patented upon discovery. Myriad Genetics, the company that held the patent for BRCA1/2 testing, held on tight to their intellectual property, essentially holding a monopoly in the US and driving prices up to $3000-4000 per sequence. This was clearly not a situation that was good for patients or physicians. This being the US, Myriad Genetics was sued and the case wound its way all the way to the Supreme Court, who did the right thing and ruled unanimously that DNA is a product of nature and not eligible for patenting (ABC News). This opened the door for a number of other companies to get in on the action of BRCA1/2 testing, essentially driving down costs and increasing access to thousands of women. “Collectively, in this chapter, we have seen the powerful impact of one individual, one company, two governmental bureaus (FDA and the Supreme Court), and two genes in dealing with public access to genomic information.”
I’ve followed the BRCA story over the years with great interest because I have predominantly French-Canadian ancestry that puts me at higher risk of being a BRCA1/2 mutation carrier, so this chapter resonated with me. Of course women should have access to BRCA testing to help frame their risk of cancer and allow them to make very personal decisions about what to do. Genetic testing as offered by companies like 23andMe may very well offer individuals information that will allow them to modify their risk behaviors based on their genetic background. However, the big issue that was not addressed in this chapter is the disparity in access to the testing. BRCA testing is a covered preventive service under the Affordable Care Act, however there are still millions of women in this country without insurance. While $99 for a direct to consumer genetic risk panel may not seem like a lot of money to pay myself, it may be a huge burden for a number of my patients who may barely be able to afford the copays on their prescriptions. This inequality in access leads to a 2 tier system of relatively rich individuals who have access to their own genetic information and can make decisions based on this and relatively poor individuals who do not. Until the payers (Government and private insurance) are convinced that there is a benefit to testing and allow for truly universal coverage, this disparity will continue.
Michelle Rheault, MD