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    My Experience With Direct-To-Consumer Genetic Testing, Post FDA Ruling

    The FDA thinks that the average person can't handle knowing their own genetic information. So I sent in my spit to 23andMe to find out if I could.

    I decided that now might be one of the last chances to cheaply look at my own genetic makeup without going through a doctor. With the publishing of an article making Promethease a visible workaround of the fateful FDA crackdown on the health portion of 23andMe (a direct-to-consumer genetic testing company/ DTC), the FDA may soon move to regulate companies like Promethease that help to interpret the raw data from 23andMe. I decided I couldn't wait any longer for 23andMe to get FDA approval for the health interpretations. 23andMe recently opened its doors to Canada (and more recently, the UK). I looked into how I could get 23andMe through Canada (DTC Tourism?): either get a PO Box or borrow a friend's address and have them forward the kit to me. Unfortunately, you have to show an ID in person to get a Canadian PO Box. And the only people I know well in Canada are two men I had previously dated. Not wanting any favors from exes, nor a 7 hour long drive to the nearest Canadian post office, I decided to order 23andMe sans health interpretation anyway and decipher what I could from Promethease.

    The raw data was available fairly quickly after I sent in my copious amounts of spit. It was insanely easy to load the raw data from 23andMe to Promethease and only costs $5. I spent a good 8 hours on Promethease and SNPedia exploring the results. I have no scientific background but luckily, I work near genetic professionals and am quite aware that I shouldn't freak out if a SNP (Single-nucleotide polymorphism: basically a variation in a specific location in your DNA) shows I have an increased risk for something because there are so many factors (several other genes interacting, expression, transcription, lifestyle, environment…to name a few) that come into play and usually the increase in risk is extremely minimal.

    Knowing my family history was also key to tempering any freakouts. My grandmother died of colon cancer at age 35. I was worried about that. I found some suspicious variants in genes related to Lynch syndrome but after accosting a genetic counselor I work with, she told me that there is not enough information in that one SNP to jump to any conclusions especially because there were no other related cancers on that side of the family. Type 2 diabetes also runs strongly on my mom's side of the family. And that's apparent in the report. No surprises there.

    Nothing from Promethease was earth-shattering. I didn't chop anything off and haven't sued anyone (yet). Admittedly, there have been some minor moments of panic. I read about a JAK2-V617F mutation that is associated with serious blood diseases (myeloproliferative disorders or MPD). It turns out I have a lot of bad mutations in most of the SNPs associated with MPD. Eeeek! Promethease literally says, "But don't panic!" and reassures you that it is an extremely rare disease. That's comforting…but not really. Google searches were not comforting either, considering I have some of the vague symptoms: anemia, headaches... After doing further research, I am slightly reassured that I am currently not suffering from MPN nor will it be inevitable in the future. (Coming back to this several weeks later, I never think about it and I don't even care.)

    The studies (like this one) that say if consumers have any increases in anxiety after reading their report, they are often short-lived are extremely true in my case. More importantly, I haven't been falsely reassured of my non-risk for anything either. I'll still do recommended public health screenings. And just because it says I am less likely to get addicted to crack, doesn't mean I'm gonna start doing crack.

    For all the articles written about how primary care providers are wary of or aren't trained enough for their patients bringing in DTC genetic tests, I'll have you know (without going into too much detail) that knowing my genetic-health information has actually made me a more compliant patient.

    My boss got 23andMe right before the FDA ruling so she has her health interpretation portion. She let me take a look at her results. The platform is beautiful, user-friendly, and does an excellent job at explaining things and showing your risk in comparison to the normal population based on several SNPs at once (the algorithm is questionable). Promethease is a lot less sexy and somewhat clunky and a little harder to understand. Without the comparison of several SNPs at once, I may read all the increased risk for cancer SNPs and not account for or miss completely all of the decreased risk ones.

    Another drawback about going to Promethease for health interpretation as opposed to the 23andMe platform is that 23andMe takes greater care in putting safeguards around potentially harmful information. James Watson, co-discoverer of the double helix and one of the first persons to have his genome sequenced wanted to know everything except for his risk information about Alzheimer's. For 23andMe users, highly penetrant Alzheimer's genes and Breast cancer genes are locked. You can look at them if you want to but it allows you to make the choice with some warning in advance.

    With Promethease, it's just there. Right in your face. No protections. No choice. My boss unlocked her breast cancer risks but has not yet unlocked the Alzheimer's one. That's her choice to not know that information. I have one sketchy variant in BRCA2 but that's 1 out of 25 SNPs which Promethease does a decent job of explaining that on its own, it doesn't mean much. Luckily my APOE variants are in the clear, so it was not a traumatizing experience to have that information visible without warning.

    The thing about genetics is that the information is not only relevant to me. I share my genetic makeup with my mom, dad, brother and sisters. That's another difference between my boss and me. I shared my information with my family, and she did not. She says she isn't certain how her family members would react – her dad is the 'ignorance is bliss' type, while her mom tends to go into overdrive about health matters. She wants to respect the fact that they didn't have a say in her getting the test and she doesn't want to unload any unexpected information that might cause undue stress.

    I have no qualms sharing my information with my family. Although my family didn't get a say in me divulging genetic risks via excessive text messages, they were interested in the information. They weren't surprised by any of it. However, in retrospect, I shouldn't have told my energy-drink addicted brother that we are fast caffeine metabolizers.

    I agree there are things you need to consider when learning about your own genetics (including potential family drama). But there are fun things you can do with the information. For example, when studies come out like this one that says a certain genotype is correlated with relationship status (Yes! An excuse to give my nosy family members as to why I'm still single), I can look up what my genotype is for that SNP. I think my colleagues are already getting sick of my "guess which genotype I have" game.

    I've learned so much more about genetics in general because of this venture. I consider the information from 23andMe and Promethease valuable and insightful no matter how ambiguous it is at this time. With my genetic information, I have further motivation to live a healthier lifestyle. (Whether or not I put that motivation into sustainable action remains to be proven.) When it comes to people being able to access and research their own genetic health data, the FDA is being ridiculously overcautious.


    Spit in this tube to reveal your future and your past!