Approval to Test for BRCA Gene Among Gains in Home Genetic Testing Field

MARCH 10, 2018
Do you remember over the holidays, the 23andMe and My Ancestry advertisements for finding out your genetic history? How many of you did it? It's been surprising for me to see how many people have jumped on the home genetic testing bandwagon this past year. It's not like 23andMe is a new company, or that home genetic testing just appeared out of nowhere, but it did have some rough patches.
23andMe seems to be the best-known company at this time and it has a good marketing team behind it. It probably helps that one of its co-founders (Ann Wojcicki) had ties with Google (she was married to Google Co-founder Sergey Brin, and Google did invest $3.9 Million back in 2007, when they were married) and one of her sisters, Susan Wojcicki, is the CEO of Youtube and former executive at Google. That aside, 23andMe ran aground with the FDA in 2010 when the it alerted the company that their products qualified as medical devices and needed clearance. Then, in 2013, 23andMe was instructed by the FDA to stop marketing their devices and giving out health information. They still sold their product, but went into a silent hiatus for a while. I noticed that Walgreens stopped carrying their product around that time as well. 
It wasn't until around late 2015 that 23andMe had a resurgence after working with the FDA to get clearance on certain testing mechanics and clearance to test for specific diseases. At this point, the FDA has since cleared them for:
  • Age-related macular degeneration
  • Alpha-1 antitrypsin deficiency
  • Celiac Disease
  • Hereditary Hemochromatosis
  • Hereditary thrombophilia
  • Late-onset Alzheimer's Disease
  • Parkinson's Disease
Also, 23andMe has been approved for testing for specific carrier statuses, such as Beta thalassemia, Bloom syndrome, cystic fibrosis, Sickle Cell Anemia, Tay-Sachs disease and about 30 more. But the big news lately has been that they were recently granted authorization by the FDA for genetic testing of cancer genes, BRCA-1/.2 This will make them the only direct-to-consumer company cleared by the FDA for such testing, which puts them way ahead of others for the time being. I think this aligns with their mission to pave the way to clear other such testing, and stay ahead of their competition, given a quote from Ann Wojcicki stating “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.”
At this point, if you want to do the spit-test at home, you can get with the 'Health+Ancestry Service' for $199, while the 'Ancestry Service' will run $991 (which compares to's $99 service, as well). There is no ability to buy just the health service, though I expect, that as they may bring that back. Now, while 23andMe has cleared its health testing services by the FDA, there are other websites that will take some of the raw data they have and interpret it for you, for a cost. They can run from $20-80, from what I have seen. 
But that's not all! There are some other interesting competitors entering this space that I have found equally fascinating. Instead of giving you a report on diseases or genes you may have, what if a genetic testing company could tell you how much Neandertal DNA you have, or about your metabolism, or even what kind of sleeper you are? Well, that's Helix, a company that takes a different approach to processing users raw genetic data.3 They have a suite of 'apps' and companies that look at your data and tell you specific outcomes of your DNA and how to use it. The Helix DNA kit runs $80, but the price includes access to the other data interpretation and their services. Take for instance Food Sensitivity+, for $249, that will tell you what foods you may be sensitive too or how it affects your digestion and nutrient absorption. Or Wine Explorer, which, for $30, will take into consideration your genetic profile to tell you what your taste preferences are and what wines are best suited for you. Now, I am not saying this is foolproof science, though most of those companies seem to be carving a niche. Helix recently raised $200 million for their platform, as investors see this becoming a booming market in the near future.4
So there you have it. Who knew that in a decade we'd start spitting into a tube to find out what diseases we are predisposed for or may have inherited, and how it can help us find out how to eat and burn calories. Now, I'll say this: I have no plan on getting on board with this, and I am sure there are others who think the same way. It's probably our mentality. That being the case, I do honestly see this becoming a thing for the next generation, who will expect to do this and use this data (as it becomes more scientifically sound and the FDA starts clearing other actions). We could find ourselves where dating profiles and other social media outlets will list our DNA for potential friends to see and have a conversation or drink about. Who knows, targeted marketing may take off this way.

In the pharmacy world, we talk about pharmacogenomics (and have been for quite some time), but this is how other companies are looking to use genetics. It's not about who metabolizes a drug fast or slow, or potential drug interactions, but rather a lifestyle factor.

  1. 23andMe. Data Reports. . Accessed March 7, 2018.
  2. 23andMe Granted First FDA Authorization for Direct-to-Consumer Genetic Test on Cancer Risk [news release]. Mountain View, CA. 23andMe. March 6, 2018. . Accessed March 7, 2018.
  3. Helix. . Accessed March 7, 2018.
  4. Helix Announces First Close of $200 Million in Financing to Drive Innovation in Personal Genomics [news release]. San Carlos, CA. March 1, 2018. . Accessed March 7, 2018.

Timothy Aungst, PharmD
Timothy Dy Aungst, PharmD, is an assistant professor of pharmacy practice at MCPHS University. He graduated from Wilkes University Nesbitt School of Pharmacy and completed a PGY-1 Pharmacy Practice Residency at St. Luke's University Hospital, and then a Clinical Geriatric Fellowship at MCPHS University. He is passionate about the rise of technology in health care and its application to pharmacy. He has published primarily on the role of mobile technology and mHealth, and made multiple national and international presentations on those topics. He blogs at, and you can find him on Twitter @TDAungst.
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