Genetic Future

Free personal genomics… sort of

Helix Health’s Steve Murphy rather breathlessly announces the launch of the Coriell Personalized Medicine Collaborative website (for the uninitiated: you can tell Steve is really excited when he uses five exclamation marks at the end of a sentence rather than four.)

To be fair, it is big news. Coriell is offering a free service – a full genome scan, plus a genetic health report and genetic counselling – that would cost you at least $500 from Navigenics. The pay-off to them is a massive database to mine for new gene-disease associations and information about patient responses to genetic testing; the pay-off for you is free genetic disease risk predictions.

There are catches, of course. Firstly, you have to be able to physically travel to an enrolment sessionall of which appear to be in New Jersey for at least the next few months – as opposed to simply spitting in a cup in the privacy of your own home for a commercial genome scan.

Secondly, Coriell takes an old-school and rather patronising approach to personal genomics: although the organisation will scan your genome looking at somewhere in the vicinity of a million genetic markers, you will only be allowed to look at the markers that Coriell thinks you’re ready for. These are the markers associated with diseases that Coriell’s Oversight Board regard as “potentially medically actionable”. If you’re interested in using your own genetic data for other purposes (e.g. exploring genetic ancestry), or if you just genuinely want to know if you carry markers associated with “non-actionable” diseases (e.g. Alzheimer’s) – well, it seems you’ll have to go elsewhere.

So, will this free service have a major impact on the market for commercial personal genomics companies? I doubt it will have any real effect on 23andMe or deCODEme, who both offer a wider range of applications than disease risk analysis (such as genetic ancestry and family member comparisons), and at least in 23andMe’s case have a vastly superior PR engine. Perhaps most importantly, these two companies (and especially 23andMe) have managed to make genomics genuinely entertaining – that’s a hard act for a non-profit, academic outfit like Coriell to follow.

However, the story is quite different for Navigenics, which has spent the last year carefully attempting to carve out the “serious, responsible genomics for sensible people” niche for itself, only to now watch Coriell effortlessly seize the moral high ground. Navigenics has explicitly avoided “frivolous” products such as ancestry or non-disease trait genetics (e.g. eye colour) to focus on disease risk prediction; having now backed itself into this corner, it will be much harder for this company can compete with Coriell’s offering.

To illustrate, here’s the list of diseases targeted by Navigenics’ latest product, Annual Insight. I’ve bolded the conditions that are also covered by Coriell:


  • Breast cancer
  • Celiac disease
  • Colon cancer
  • Crohn’s disease
  • Diabetes, type 2
  • Glaucoma
  • Heart attack
  • Macular degeneration
  • Osteoarthritis
  • Prostate cancer

I’d be pretty surprised if Coriell didn’t add breast cancer and celiac disease to its list of conditions in the near future: both are actionable, and both have fairly convincing (albeit only weakly predictive) associations with common variants.

So Navigenics’ product, which focuses only on these diseases, offers a negligible advantage over the Coriell scan in terms of clinical utility but costs $500 more. From most places in the US, it would be cheaper to travel to New Jersey and get Coriell’s test than to fork out for Navigenics’ product – and assuming that Coriell will eventually take its show on the road, the travel costs and inconvenience barrier are likely to drop even further at some point.

I’ll be interested to see how Navigenics responds to this threat – can it do so without destroying its carefully constructed facade of sombre, medically-focused responsibility? Resorting to a move into non-disease genetics and ancestry would break this spell, and put the company up against the well-entrenched 23andMe; expanding the list of tested conditions would mean moving into less well-established associations, undermining its claims of conservatism. It’s a tricky dilemma.

As for Coriell – well, if I was living anywhere near the New Jersey area I’d be signing up at the next enrollment session. I deeply dislike the patronising “need to know” attitude, but Coriell’s study will answer important questions about the response of consumers to responsible genetic testing, and maybe even find some new associations – and at the end of the day, free genetic information is free genetic information.

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Comments

  1. #1 Anon
    February 2, 2009

    I WOULDN’T sigh up for Coriell because I think that paternalistic attitudes in medicine are immoral. I cannot encourage them one bit.

    IF they change their attitudes, then I’ll happily contribute to their studies.

    But I’m not going to shoot myself in the foot by supporting an attitude that would ban me from using DTC tests.

  2. #2 Steven Murphy MD
    February 3, 2009

    Daniel!!!!!

    @ Anonymous,
    Is it paternalistic to suggest that you not perform surgery on yourself? What about not dose your own medications? What about, not engaging in medicine without the proper training?

    There is an old saying in medicine……..”The doctor who treats himself, has a fool for a patient” Perhaps we should really think about that……

    -Steve
    http://www.thegenesherpa.blogspot.com

  3. #3 Andrew Yates
    February 3, 2009

    Hey Daniel,

    Steve is excited because he’s licensed to provide Coriell PMC in the state of Connecticut and —via a fifteen minute train ride— New York City from his primary care physician office in Greenwich, CT. A actual patient physically enrolling in CT probably won’t happen until April, but when it does, there will be a permanent licensed medical office in the Greenwich Hospital network providing free Coriell genomic tests to NYC and CT.

    A license for the state of NY is in process, also.

    Anon: “But I’m not going to shoot myself in the foot by supporting an attitude that would ban me from using DTC tests.” ??? um, what?

  4. #4 Andrew Yates
    February 3, 2009

    Oh, and I should clarify that Steve has no commercial interest in providing Coriell. He does it because of the publicity, because it’s the right thing to do from a medical publicity, and for… spite? lol

  5. #5 Anon
    February 3, 2009

    Steve: Having access to your own test results is not the same as performing surgery on yourself.

    Andrew: I meant that people with paternalistic attitudes are in favor of banning DTC tests. Look at what New York is doing: Already you cannot use 23andme from NY. ( https://www.23andme.com/you/community/phenotype/thread/432/ ) If this continues, DTC bans will spread to other states.

    We must stand up for our right to access our own genome without having the information filtered by doctors.

    I want doctors to ADVISE me, not to CONTROL me.

  6. #6 Cliff dna testing labs
    February 3, 2009

    Nice going Steve,Daniel I can not help but wonder how big is Navigenics database so I would have a better idea of how much of a gap in data there is ,unless Coriell has access to eductional databases also I would think they have alot of ground to make up.

  7. #7 Andrew Yates
    February 3, 2009

    Oh, I think it would be terrible if DTC tests were banned. That’s why I’m so hostile when DTC genomic testing companies oversell the clinical utility of their tests. It’s the “medicine by marketing” and “medicine that’s not medicine” tomfoolery that calls down the wrath of the regulatory and medical community —not the introduction of new genomic test providers who are licensed to perform medical research at no cost to participants.

    Further, I don’t think “access to your genome” is a relevant concern. Genomic sequencing is only getting cheaper and the procedure is entirely nonhazardous to participants. The only reason access to genomic tests would be significantly restricted would be because carpetbaggers force reactionary regulation —which has been the case so far.

  8. #8 Anon
    February 3, 2009

    You don’t think “access to your genome” is a relevant concern?

    You realise that testing for PSA, standard blood work, and even cholesterol level requires a doctor’s approval, right?

    These are also cheap tests with no downsides. And yet they are restricted by “gatekeepers” (ie: doctors).

    Now, granted, I wouldn’t bother to get these tests on my own. But the principle is that they should be available to me if I chose to pay for them out of pocket.

    Let me make a prediction: in 25 years, you will not be able to get a DTC test legally in the USA. You will need to go though an approved “professional genomic counselor”.
    Want to take me up on this? http://www.longbets.org/

  9. #9 Andrew Yates
    February 3, 2009

    I don’t think that this bet would be defined in 25 years considering that genomic testing is a rapidly progressing technology and, by comparison, the public Internet is only about 15 years old and the PC about 30. Further, licensing a service doesn’t necessarily unjustly restrict its access. Usually, it’s to enforce a standard of quality because there are no standards of quality in marketing. Finally, none of this is relevant to my point that it’s reckless companies abusing the definition of what’s medically true that evokes putative regulation, not the introduction of a provider licensed to provide medical research.

    But yah, sure, I’ll put up $10 if they accept PayPal. However, I’m far more willing to bet that in 25 years, my $10 bet will be either lost or forgotten. I’m not sure how I would collect on a bet to forget my bet, though…

    Set it up and send me an email when it’s ready.

  10. #10 Andrew Yates
    February 3, 2009

    Scratch betting on that service, I used http://tipjoy.com to donate $20.25 to this blog page. http://tipjoy.com/u/AndrewYates/

    Consider that putting my money where my mouth is —and to a good cause. You can do the same by creating a tipjoy account and linking to your profile here as proof of your donation.

  11. #11 Anon
    February 4, 2009

    I was thinking of much more than $10. LongBets is designed to be around a long time from now, and the bets pay off to charity. But all that is besides the point since we seem to disagree with the premise of the bet.

    No matter. My point is that attitudes like those of Coriell are corrosive to individual liberty. This is why I think we should pressure them to change.

    Your point, I think, is that their attitudes will not affect us in the long run.

    I hope you are right. I fear that I’m right.

  12. #12 Andrew Yates
    February 4, 2009

    I donated $20 to this site via tipjoy instead of placing a bet. I posted a link about it, but it seems to have been caught in moderation. Daniel, let me know what you think of the service and if you can easily get to your donation. A friend of mine designed it…

  13. #13 Betty Gelean
    February 6, 2009

    I’ve stumbled here from another site. But I have serious concerns about what genetic health problems are going to be for my grandchildren. They have 3 generations of medical issues (all currently living) that are somewhat serious and I worry about their future and whether they should somehow be tested. Their parents are poor, we are just barely hanging on, but I’m really worried. Some of the problems in these living members beginning with their parents: celiac, ADHD, Von Willebrands, migraine, herpes, rosacea, hearing problems; grandparents: lung cancer (non smoker), ulcerative colitis (ileostomy 35 yrs), kidney stones, diabetes 2, rosacea, deafness, essential tremor, migraine; great grandparents (age 92): high blood pressure, essential tremor, mild stroke 5yrs ago, kidney stones, migraine; gggrandparents: high blood pressure, Alzheimers, aneurism. What are people’s thoughts about the worth of trying one of the systems that are available? We live in British Columbia.