Why do I keep hearing about 23andMe and the FDA?

Last week the FDA made headlines by authorizing the genetic testing company 23andMe to perform testing for two genes associated with hereditary breast cancer, BRCA1 and BRCA2.  Since this announcement, there has been a lot of buzz on the internet about why this is good and why this is bad, and like most debates, it’s not entirely one or the other.

23andMe launched in 2007 as a direct to consumer genetic testing company. The process is simple: your order the test, they mail you a kit, you spit in the tube and send back. A few weeks later you have genetic information about yourself without ever needing to schedule a doctors appointment or argue with your insurance company.  There was initially a lot of resistance to this way of testing by the medical genetics community, primarily due to a concern that people would not fully understand the implications of the test or how to correctly interpret their results. And while the test initially was telling you seemingly meaningless information, like your ear wax consistency, by 2013, 23andMe was adding markers that corresponded to health conditions, like risks for breast cancer and Alzheimer’s disease. With no precedent for this type of testing (marketed directly to the consumer rather than the doctor), the Food and Drug Administration (FDA) had to determine what kind of oversite they could/should have over such products. Ultimately, the FDA decided that any kit intended to cure, mitigate, treat, prevent, or diagnose a disease is a “medical device,” which the FDA needs to deem safe and effective.

Despite much communication, 23andMe failed to provide the information that the FDA required, and 23andMe’s test was banned. At the time, the FDA released this statement, “FDA is concerned about the public health consequences of inaccurate results from the PGS device – the main purpose of compliance with FDA’s regulatory requirements is to ensure that the tests work. Patients relying on such tests may begin to self-manage their treatment through dose changes or even abandon certain therapies depending on the outcome of the assessment.” 23andMe continued to sell the test for ancestry information and raw data and slowly began working with the FDA to condition by condition, expand the scope of their product. In April of 2017, the FDA authorized 23andMe testing for ten health conditions, including late-onset Alzheimer’s disease, Parkinson’s disease, and Celiac disease. And this month, on March 6, 2018, the FDA authorized testing for three mutations in the genes BRCA1 and BRCA2. (Check out this interesting article on the the difference between FDA authorization and approval!)

So let’s get back to the controversy of this announcement.

BRCA1 and BRCA2 are the most famous of the dozens of genes known to increase the risk for cancer. When the genes are working correctly, they function to protect us against tumor development, but cancer risk increases if these genes are not functioning properly. Individuals who have a mutation in a BRCA gene have a 50-85% lifetime risk of breast cancer, a 20-60% lifetime risk of ovarian cancer, and can be at risk increased risks for other cancers as well. The notoriety of these two genes skyrocketed when Angelina Jolie shared with the world that she has a BRCA1 mutation and elected to remove her breasts and ovaries preventatively.

So on the surface, increasing people’s ability to find out if they have a mutation in BRCA1 or BRCA2 is a great thing. Regarding the FDA authorization, 23andMe co-founder and CEO, Anne Wojcicki, stated “Being the first and only direct-to-consumer genetics company to receive FDA authorization to test for cancer risk without a prescription is a major milestone for 23andMe and for the consumer. We believe it’s important for consumers to have direct and affordable access to this potentially life-saving information. We will continue pioneering a path for greater access to health information, and promoting a more consumer-driven, preventative approach to health care.” Essentially, if people have easier access to testing, more people will be aware of their increased risk, will do additional screenings or have surgical interventions, and this will lead to fewer and earlier cancer diagnoses with a better prognosis. Lives will be saved. Sounds great!

The problem that a lot of medical professionals have with this is stated right there in the FDA announcement: “FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes.” These three mutations, two in BRCA1 and one in BRCA2, account for only a fraction of the over 1,000 known BRCA1 and BRCA2 mutations. Although these three mutations are uncommon in the general population, these three are singled out because of their high frequency in the Ashkenazi (Eastern European) Jewish population. In fact, 1 in 40 people of Ashkenazi Jewish ancestry has one of these mutations.

The concern with 23andMe offering this testing is that people with negative or normal results may feel falsely reassured about their cancer risks.  Will the average consumer fully understand just how narrow this test is and that it only scratched the surface of a hereditary cancer genetic evaluation?  Will easy access to this testing decrease the number of high-risk people having a thorough hereditary cancer genetic evaluation and ultimately result in their mutations never being identified?

In pre-test counseling, as expected we take a personal and family history to see what hereditary cancer conditions seem the most suspicious and discuss testing options accordingly, but we also get to know your personality, anxieties, and your family dynamics.

  • For younger individuals, your screening recommendations may not change for many years even if a mutation is identified. Knowing that, would you want this information now or would you rather wait until it is actionable?
  • Do your siblings, parents, or children know you are doing this testing? Are they supportive? If you learned you had an increased risk, would you share that with them? Do you think this is information they would choose to know about themselves?
  • Some cancer genes have established screening recommendations for identified mutations, and others do not. Would you want to only test for genes we already have a game plan for how to handle or do you want to test for everything we can, knowing we might not know what to do with the information?
  • Do you have a life insurance policy? If not, you may want to get one before having the test, as abnormal genetic test result can be used against you when requesting a policy.

For me, I think it’s too early to decide if this is good or bad.  But I do know that this ruling places a lot of responsibility on a lot of different groups. It places responsibility on 23andMe to provide this information to its consumers. It places responsibility on healthcare providers to understand what patients have at their fingertips and what should or should not clinically be done with the information. And it places responsibility on the consumer to make thoughtful, informed choices, and seek out professional assistance when necessary.

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