Development of breakthrough testing in 2002 and 2006 to identify mutations in the so-called “breast cancer gene” were exciting moments for women’s health—but especially for women like me.
My family history of breast cancer and my Ashkenazi Jewish lineage made me particularly susceptible to harmful changes in the BRCA1 and BRCA2 genes, which suppress tumor proteins and thus protect against cancer.
According to the National Cancer Institute, while about 12 percent of women in the general population will develop breast cancer, that number jumps to between 55 and 65 percent for women with a harmful mutation in BRCA1 and about 45 percent for women with BRCA2 mutations. So my doctor recommended I see a genetic counsellor about getting “the BRCA test.”
But there was a catch: The test was expensive, and, if it was paid for by my health insurance carrier, they would then have access to the results — as would any subsequent company from which I purchased insurance.
Being in my early twenties, I was willing to wait several years for the test to become more affordable, at which point I was planning to pay for it out of pocket in order to keep the results to myself.
Unfortunately, the company that developed the test was also able to patent the genes, thus at least temporarily cornering the market.
Then along came a company called “23andMe.” Founded by a former executive at Google, 23andMe sold saliva-swabbing kits whose sample they would then test for selected mutations of the gene. I ordered a kit when the price dropped to $99.
Several weeks later, my results were available online. While other aspects of the test involving ancestry and even Neanderthal DNA were fascinating to pore over, the first results I checked were for the BRCA gene mutation.
While an incomplete look at my genetic disposition to the disease, it was the easiest and cheapest way to get a window into my risk while waiting for the full test to become somewhat affordable.
It also held the promise of creating a crowdsourced genetic database, which could be a boon to medical, especially genetic, research.
Then came a setback, courtesy of the Food and Drug Administration. At issue was whether Americans could be trusted with their own genetic information.
The FDA claimed that customers might, after a false-positive for a mutation for the BRCA gene, subject themselves unnecessarily to a double mastectomy.
But this claim defies logic. Would any surgeon in America schedule a patient for a major surgery before retesting the patient, regardless of which lab did the initial testing?
And the occurrence of false positives in mammography, for example, is well known, yet frequent mammograms and related medical consultations and checkups remain the standard recommendation.
The FDA claimed—reasonably, it should be conceded—that the spit kits qualified as medical instruments subject to the relevant regulations.
After stalling the feds for a few years, 23andMe agreed to suspend offering consumers access to the test results, halting any advances they might have made.
Other personalized-medicine start-ups have put on the brakes as well, scared off by the cost and time investment that FDA approval requires. I was working as a consultant for one such company, Genome Liberty.
The company had developed a saliva test that would have enabled their customers with schizophrenia, clotting disorders, and many other diseases to determine which medications would work best with their genetic disposition.
After the FDA’s cease-and-desist order, Genome Liberty’s founders decided to fold, unable to jump through the necessary hoops.
The FDA has not only taken away Americans’ access to their own genetic information; they have also stifled innovation and entrepreneurialism within the industry in the process.
There is no way to know the precise cost of this result but it will almost certainly be in lives unnecessarily lost due to bureaucratic rigidity.Bethany Mandel is the social media associate at Commentary Magazine.