Genetic counseling: The missing piece for 23andMe

On November 22, the FDA sent Silicon Valley’s leading personalized genetics company 23andMe a warning letter after six months of radio silence and recent increased efforts in marketing.

Excerpts from the chastising letter read: “As part of our interactions with you, including more than 14 face-to-face and teleconference meetings, hundreds of email exchanges, and dozens of written communications, we provided you with specific feedback on study protocols and clinical and analytical validation requirements … It is now eleven months later, and you have yet to provide FDA with any new information about these tests.  You have not worked with us toward de novo classification, did not provide the additional information we requested necessary to complete review of your 510(k)s, and FDA has not received any communication from 23andMe since May.”

The FDA called for an immediate end to marketing of personalized genetics kits for health purposes, citing false positives and negatives related to BRCA genes and response to medications. After more than a week of debate and back and forth between the FDA and 23andMe behind closed doors and in the media spotlight, the company chose to freeze sales of its “spit kits” (personalized genetic tests) for health reasons today. Ancestry information and raw genetic data will still be available to consumers, and the company will continue its research efforts using the large pool of genetic data it now has collected.

I personally feel that 23andMe has a great product, but for the average consumer who may not have any background in health, wading through the results can be challenging. In college and medical school I took multiple classes on genetics, and I still don’t know how to interpret the risks for various diseases based solely on genetic codes.

Back in the summer of 2010 I took Stanford’s first personalized genomics class (which I just found a paper in PLOS ONE about … I don’t remember filling out these informed consents) where every student got genotyped through 23andMe, and we played around with the raw genetic data to look for new information not offered by the company (one that sticks out in my mind now is longevity based on your family history and DNA).

To be honest, most of the computational genomics were over my head, but the one thing I took away was that the field of personalized genomics is ever changing, and what may predict risk one day may be found to be something different another day. I know not to rely solely on my 23andMe results to make medical decisions. But are there people out there that do? I think so.

What I think would be helpful is to have more guidance from trained professionals to help people interpret their genetic data. Currently 23andMe teams up with Informed Medical Decisions, Inc. to provide genetic counseling if needed. But they are an additional expense, and people have to go out of their way to seek this service.

What if 23andMe could have genetic counselors on hand everyday online, available to chat via the web, on the phone, or in person? Or maybe consider having patients choose whether or not they want to discuss the results with their primary care doctor at their next visit, and sending over the results before the appointment.

From a research standpoint, 23andMe is fantastic and I hope they continue to study their huge samples of genetic code. And eventually I hope that people can have access to spit kits again. They just may need a bit more help to understand what their genetic language truly means.

Joyce Ho is a medical student who blogs at Tea with MD.  She can be reached on Twitter @TeawithMD.

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  • doc99

    It’s truly a pity that 3rd party payors view the services of genetic counselors so highly that they reimburse $0.00 for a counseling session.

    • GT

      If citizens really thought the thousands of dollars that “genetic counselors” from the medical-industrial complex want in order to interpret their spit tests was worth it, they’d pay for them themselves out of pocket, as they do for the spit tests.

      Apparently, they don’t. Which is why the medical-industrial complex wants the government to FORCE citizens to fork over thousands for their services whether they want to or not.

      Or, like you, they think that all of our insurance rates and taxes should go up so that we can get these services, which you want the government to mandate, “for free”.

  • GT

    23andMe only costs $99. By stipulating that anyone buying it must get government-mandated permission from the government-licensed medical cartel, and pay them $1000 or more for the privilege, you’re kind of defeating the purpose.

    Killing off a popular $99 test because you aren’t getting your cut is not going to go over well amongst the hoi polloi. When an industry with a government-granted monopoly lobbies for the government to force people to give them more money, or else not get the product from the private market that they want, it’s kind of a bad look.

    “When buying and selling are controlled by the legislature, the first thing to be bought are the legislators.” And it’s always the hapless and powerless citizen who pays the price.

    Q. Why can’t I get a $99 23andMe test anymore?

    A. Because the government and its democrat medico cheerleaders — the ones who helped bring you Obamacare — are ticked off that they’re not getting their cut. Also, because they think you’re stupid. But you knew that.

    • Markus Unread

      Don’t forget that “Obamacare” was “Romneycare” first and was the only way to avoid Single Payer. “An individual mandate coupled with subsidies for private insurance as a means for universal healthcare
      was considered the best way to win the support of the Senate because it
      had been included in prior bipartisan reform proposals. The concept
      goes back to at least 1989, when the conservative Heritage Foundation proposed an individual mandate as an alternative to single-payer health care It was championed for a time by conservative economists and Republican senators as a market-based approach to healthcare reform on the basis of individual responsibility and avoidance of free rider problems. Specifically, because the 1986 Emergency Medical Treatment and Active Labor Act
      (EMTALA) requires any hospital participating in Medicare (which nearly
      all do) to provide emergency care to anyone who needs it, the government
      often indirectly bore the cost of those without the ability to pay.”
      When they say “market-based” above, think “market-controlled”.

  • GeneSherpas

    CGC is not always needed. IMHO, for PGx testing you should have PharmD or MD. They are prepared better than CGCs who never take pharmacology courses….

  • Sara Stein MD

    I agree – it’s a good service for those who are interested, and it may require additional interpretation, but probably from the PCP, not the company.

    You can still get the 23andme kit and the raw data. And you can download the raw data into the 23andme apps that are available from OTHER companies for approximately $20, which will generate the health data. Not sure why doctors are so disgruntled by this – yes, I had to spend time looking up a few mutations for someone, and yes I knew much less than I hoped, but overall it was an interesting encounter for both the patient and me.

    I don’t think this is about the genetic counseling, I think this is about the SNPs that demonstrate increased risk for side effects to meds such as statins. Those people will unanimously turn down their statin Rx, as would I.

  • Markus Unread

    It’s all about the money. It’s also about the concept, however true, that people can’t make informed decisions about healthcare. So why let them have the information? The public isn’t allowed to know if their food contains GMO based products, pesticides or herbicides. Why should the FDA and their corporate “advisors” allow people to find out about inherited risks without paying thousands for the privilege? We have the most expensive healthcare in the world and a $99 spit test doesn’t fit into that business model.

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