Of course, my entire professional life is pretty much devoted to genomics and related issues (particularly pharmacogenomics), but last week I had my first official “post-genomic” personal moment. In brief, I finally read the full New England Journal of Medicine report on muscle breakdown in response to statin drugs, and noticed that in the abstract the RS# for the SNP (i.e., the identifier from dbSNP, rs4363657) was provided. (By the way, thanks to the authors/editors for doing that–maybe they read my comments on this topic…). Anyway, I was able to log in to 23andme.com (NOTE: I am a paid advisor to them) and typed in the RS# to find out my alleles. Fortunately, I seem to have the “low risk” alleles for statin myopathy, and so should I ever need to take statins, I am incrementally more comfortable that it may be safe.
Down side? Well, my genotyping could be wrong and so I could have been totally mislead. Also, there is no guarantee even if the genotyping is right that I won’t have this or other problems with statins. So, I guess I wouldn’t bet the farm or the house or the car, but I would probably bet my toaster that the information is good and relevant.
The point is not the huge immediate impact on my life. The point is that in about 30 seconds I went from reading an article of potential interest to checking my genotype and drawing a preliminary conclusion about my own future actions (i.e. maybe feel comfortable taking statins, should they become attractive for other reasons). I anticipate we all will have more of these moments, but I must say it was quite quick, informative, even fun. It is not clear how this will be done routinely in the future–I could have gotten an email informing me of my risk or gone to a website which presented it all to me (in fact, I have done this many times before and that feels different), but it seemed more appropriate for me to discover the article and do the checking myself and not for someone else to force me to think about it when I may not have been ready. By having to invest the 30 seconds and take a few steps, I was clearly taking control of the “investigation” and could think about all its potential pitfalls: was the article accurate? was my genotyping accurate? how much is my risk really affected? do I think I am ever going to take statins anyway? OK, that’s enough about this: It was a cool moment to go from a published article to a tentative conclusion about my own health in less than a minute.
13 responses so far ↓
rbaltman // October 18, 2008 at 7:58 pm
By the way, this is an argument for patient-controlled records and specifically patient-controlled access to genetic information. Then, the patient is in charge of when and how their information is used to draw conclusions about their health.
mike polcari // October 19, 2008 at 8:31 pm
inspired by a similar experience, I started tinkering with a firefox plugin to display an individual’s genotype in context.
here’s the concept:
https://sites.google.com/site/23andmeeverywhere/_/rsrc/1224447601929/Home/23andMePlugin.JPG
gnr // October 19, 2008 at 11:23 pm
There is information on the error rates in Table 2. It’s pretty minimal.
Ann Turner, M.D. // October 20, 2008 at 4:35 pm
I’ve also been checking my own results as articles come out, but in addition, I’ve been pursuing a project of my own, trying to identify a chromosomal region for our familial hearing impairment. I’ve tested some close relatives (e.g. 1st cousins once removed) at deCODEme and 23andMe, and I can use the family comparison tools to see where we match up. There are many dozens of known mutations that affect hearing. Now I can instantly visualize whether a new study might be relevant to our family by seeing if the affected members (and only the affected members) share the same genomic region. I’ve given this information to researchers who may actually sequence some genes for us.
Nigam Shah // October 20, 2008 at 4:48 pm
What would your reaction have been if the information put you at “high risk”. Would the worry-index be high enough to warrant more than toaster-betting reliability?
rbaltman // October 20, 2008 at 4:51 pm
(TO Nigam). If I had the high risk allele, I just would have made a mental note to follow up on this possibility more carefully if statins ever come into the picture. In most cases, this kind of data just adjusts probabilities and makes certain followup investigations either more or less attractive/necessary.
The Spittoon » A Genomic Moment // October 21, 2008 at 6:17 pm
[...] a recent post on his “Building Confidence” blog, 23andMe scientific advisor Russ Altman recounts an [...]
Susan Blanton // October 24, 2008 at 4:38 pm
I think it is great that you were able to do this. However, your idea that this information is best handled by the patient is unrealistic. 50% of the US population has low “health” literacy and would not be capable of doing this.
neitro // October 28, 2008 at 4:58 pm
I can only say all the best to you man.
Simon Lin, MD // October 28, 2008 at 5:39 pm
Agree with Mike Polcari’s comment! We had a similar prototype, sent to Microsoft for a grant, but unfortunately unfunded. 8-(
health care » Blog Archive » A Genomic Moment // December 6, 2008 at 3:27 pm
[...] a recent post on his “Building Confidence” blog, 23andMe scientific advisor Russ Altman recounts an [...]
I got a senior scientist blogging! « I was lost but now I live here // February 2, 2009 at 8:41 pm
[...] our prize, Russ’s blog post on one of his first post-genomic moments will be in the Open Laboratory 2008 anthology and we will both get to go to SciFoo in August. [...]
We are blushing. « Building confidence. // February 3, 2009 at 6:53 am
[...] “I was lost but now I live here.“ The prize singled out my entry entitled “One of my first post-genomic moments” and this will appear in a digest of blog entries they are [...]