I began this by commenting on Mark Henderson’s Blog about his genetic results, I had just had an espresso (and I live in Italy) & got carried away, it’s Mark’s fault as well, he invited comments via Twitter. The Times has become a subscription site for a few weeks – I really urge you to go and subscribe, it’s worth it for now at least (£1 for 30 days), the science coverage is the best in it’s class. Anyway, here are my comments on his excellent article, which you should go and read at: http://bit.ly/9H7iSP
Good stuff Mark and glad that others are climbing over the paywall to read it, it feels pretty lonely here! Just a few comments:
1) "Many of these, however, are based on preliminary, unreplicated findings [re 23andMe]" - this is OK and glad that Gutman agreed yesterday that prelim findings/information is OK as long as it is clearly labelled as such. I'm interested for professional and personal reasons in prelim findings, I can get them from the primary source but there is no reason why it should not be possible for anybody to access the same information in a more user friendly way (mostly from research that we have all paid for) - why should it only be accessible to "us". in fact the more public access the better, it could even improve journalism...I'm thinking Indy here, not the Times (well maybe Sunday Times)!
2) Yes interesting that Pathway are now docs only. I have always been disappointed by the lack of information on the Pathway site, what have they got to hide since their competitors have shown everything. They've always been the LibDems of the DTC world and just like with Clegg et al, recent events (Walgreens and following storm) have brought them to prominence. I wouldn't call them losers, and even if their attempt was an "ill-starred initiative" they are now definitely on the map, it brought them loads of publicity (the storm was interesting though, seems that selling through a pharmacy, with professional present, was considered worse than DTC via internet). Anyway, still do not like their opaque website and would not recommend them for that reason, I hope that the NIH Genetic Testing Registry will sort that out
3) On the NIH GTR - I hope that they learn from the DTC companies on how to present information, they will miss a big opportunity if they do not make it extremely user friendly for public and professionals alike
4) Not being able to see the Pathway results (by the way are they copyright protected or can you put them on the Times server for download, if you wanted of course? That would increase subs even more!) - I get the feeling that I agree with you. The "take action" stuff looks like they are presenting the risks as applying to YOU as an individual without making it clear enough that these are population risks. In fact, based on the genetics alone, you may not need to take action. Without the environmental, family history etc info the personal risk cannot be accurate. The gene for "dangerous driving" will only be relevant to you if you actually drive. I believe that 23andMe and Decode communicate this well enough, Pathway seem to be trying too hard to do "personalised" healthcare.
5) Re your glaucoma risk "I am now a confused customer!" Again I hope that the GTR will help (I am maybe hoping for far too much from the GTR) - if it has a forum area where anyone can post to (incl anonymous) then maybe you would get expert help in sorting out the confusion, we know from the blogs that the experts are out there and are happy to help
6) The apparent sampling errors could be due to typing complementary strands, so GG would be the same as CC? I don’t know if that would be the reason for AG → TG though (BTW do 23andme type rs6553078, according to dbSNP this is what rs10390924 has become?). However it would be very interesting to compare the full concordance for all the SNPs in the 3 sets of results, it’s important to know what the accuracies are, maybe you could get help from a friendly blogger (I would offer if I knew a good way to do it!)
7) “I'm still firmly of the view that individuals should be able to buy access to their genomes without medical supervision” – do you think though that they should be regulated in some way or is some sort of strong push for complete transparency enough (eg. GTR, again…)? If they are deemed Class II by FDA that would require premarket review, but of what? The details and interpretation are in continual flux – we’ll end up with a Zeno’s Paradox – if you pre-market review the service at a point in time you won’t see it moving and by the time you get the results it won’t be there anymore. If they want to make it Class II they will have to be innovative with the review process
Sorry, this became far too long, I should not write comments on genetics just after an espresso, but you asked!
If anybody is reading this (I have even fewer readers than The Times) please comment over at Mark’s blog (you can copy here as well, but I insist that you comment at Mark’s as well, please…I get NO commission, just want to help get discussion going at Eureka again)