Wednesday, December 12, 2018

Very Brief Blog: My Brief Adventure with DTC Testing

Having worked in genomics policy for years, I have never explored DTC testing.  I ordered panel testing from Color and microbiome testing from Ubiome. 


Ubiome 

Ubiome testing was easier than I thought (you tap the paper with a swab).  A report took several weeks.  (A) I had no "pathogens," (B) my normal flora was "normal," and a range of I guess (C) particularly healthy bacilli (various lactobacilli) were reported separately.

Color

Kit. Color sent a simple kit with an empty vial to spit into.   After about 30 days, it provided a hereditary cancer panel, a heart health panel, and so far at 6 weeks has reported 2 of about 14 CYP genes. 

Cancer & Cardio.  I had no hits on the cancer panel (recall that the general prevalence of e.g. BRCA is well below 1%).

This wasn't surprising; Color "warns" you, so to speak, that most people will be negative in their tests.  And my extended maternal/paternal history is unusually negative for any cancers. 

I also had no hits on the cardio panel either (and I have no family history for A-Fib, for sudden death, or for familial hypercholesterolemia). 

CYP.  The first two available CYP genes came with strong click-through warnings not to change any meds without talking to a physician.   I was normal (intermediate) for CYP2C19 and CYP2D6. 

Color tells me that twelve more pharmacogenetic genes will be reported, but in up to six months.  I'm curious if I'm slow for CYP1A2, since I'm hypersensitive to caffeine.

Caveats.  I assume these tests look for the more common variants and if they aren't there, the default is "normal."

Glitches.
  • Despite clicking around, I couldn't find a list of the 12 (yet to be reported) CYP genes.
  • Despite clicking on a cardio link that promised "learn more about these genes," I didn't learn anything.  
    • So I'd be left googling Wikipedia to figure out what cardio gene MYH7 was.   
    • (I can guess that KCN and SCN are K+ and Na+ channels, but maybe my PhD in neuroscience helps there.)
  • The "learn more" click for cancer was more helpful; for example, I learned if my APC gene was positive I'd have a very high risk of CRC. 
  • Based on the various direct-to-consumer email traffic to me from each company, I believe each test was "ordered by a physician," somewhere, based on my age/sex/and very basic clinical checkboxes during enrollment.


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Cardio genes were:  ACTA2, ACTC1, APOB, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, PCSK9, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TPM1.

Cancer genes were:  APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53

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Aside.  While my Color cardio panel was negative, I do have strong maternal/paternal loading for common hypertension of aging, both parents having had poorly controlled hypertension and dying of cardiovascular causes (father 60, mother 80). 

Accordingly, from my early 50s to late 50s my blood pressure switched from around 90/60 to around 150/100, and it seemed completely unrelated to sodium.  A daily generic tablet keeps my BP around 115 instead of 150, so I'm lucky.  I confirm BP control periodically with a Qardio bluetooth arm monitor linked to my iPhone.   But none of this issue is flagged by the Color cardio panel, which looks for rare things like potassium channel mutations.

At the podcast Tech Tonics, Harvard professor Sek Kathiresan recently discussed polygenic modeling of cardiac risk (here).  I might have that; but my hypertension-of-aging isn't something picked up by single disease genes like SCN5A.