SNPedia: no joke!
Wow. I can tell Jenny and Richard and all alter egos are going to have a field day with this one.
www.snpedia.com : all the look and mouth-feel of a dot.org site, but check out the subject matter!
Quoting from the FAQ page:
How many snps are in SNPedia?
As of Jan 2008 there are over 2,000 snps in SNPedia. The current number can be seen by visiting Special:Categories and looking for the number of members next to ‘Is a snp’.
How can I get tested to determine which SNPs I carry?
See the testing page; however, note that a given array can only test for the SNPs on that array. Several consumers have been disappointed to learn (after spending their money) that their risk for certain diseases is not well predicted by the particular array used by the company they chose, even though they know related SNPs are described here in SNPedia.
Anyone else feel uncomfortable with this? Will the rampantly non self-correcting error propagation of Wikipedia be repeated here, and if so, to what result? DeCODEme has covered its butt as follows:
NEITHER DECODE, OR ITS DIVISIONS, SUBSIDIARIES, SUCCESSORS, PARENT COMPANIES, AFFILIATES OR THEIR EMPLOYEES, PARTNERS, PRINCIPALS, AGENTS AND REPRESENTATIVES, NOR ANY OTHER PARTY INVOLVED IN CREATING, PRODUCING OR DELIVERING GENETIC SCANS IS LIABLE FOR ANY DIRECT, INCIDENTAL, CONSEQUENTIAL, INDIRECT, PUNITIVE OR ANY OTHER DAMAGES ARISING OUT OF SUCH GENETIC SCANS OR YOUR USE OF THE GENETIC SCANS. THIS INCLUDES LIABILITY FOR PERSONAL INJURY OR DEATH.
but when your grandmother commits suicide because she thinks she’s learned she has that 10x risk of contracting Alzheimer’s that’s on the front page of SNPedia, you tell me that you aren’t going to blame this site for putting half-baked information at the disposal of people who are not equipped to put it into appropriate perspective?
I’m sure it comes from an admirable impulse to demystify genetics and so forth, but people’s attention spans are not that long unless they are already convinced they will have or might already have a disease with a genetic component. Under those circumstances, they are not in a position to weigh evidence impartially. If I told you that you have a 35% cumulative risk of getting cancer over your lifetime, you might be worried until I also told you that it could well be the average for all people everywhere. (Actually, I had 42% lodged in my head but I couldn’t source it; here’s another one citing 46.5%). It’s a lot, anyhow. So how do you take it to mean something in the context of your own life?
Posted on Monday, January 28th, 2008 at 6:22 am Categorized as:General You can leave a response, or trackback from your own site.
January 28th, 2008 at 8:25 am
I’m somewhat amused that things like “redhead” indicators are classed as being a medical condition…
-Geoff
January 28th, 2008 at 9:52 am
Red-headedness is caused by a particular allele (version, variant) of the gene for the melanocyte-stimulating hormone receptor. And that allele is associated with increased UV-induced skin damage which combined with other problems can lead to melanoma. But you knew that already. There’s some more in-depth discussion here: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266300
January 28th, 2008 at 10:42 am
Yes, thank you. My point being not that it doesn’t come with issues (the easy skin burn etc)… just that it isn’t commonly accepted to describe redheads as people with a medical condition preventing them from being “normal” (ie blonde or brunette).
Yes, I know. I’m amusing myself at the expense of the world of PC.
January 28th, 2008 at 3:28 pm
well, you nailed it there! Or, as far as I am concerned anyway. The key issue might not be the genetic testing but what kind of responsibility you have when giving theses “tests” to regular people and then write it all off as “it’s their problem to interpret, not mine”.
That said, I have always been against ‘home testing for genetic diseases” since I think it is unethical to let anyone make a test on anyone without having proper people aroundwho could answer you potential questions and worries. It’s like saving money but not at all.
anyway, thanks for the links!
January 28th, 2008 at 3:44 pm
Sorry, Geoff, blondes and redheads and even white-skinned brunettes are not normal. The norm around the world is much more eumelanin. From the point of view of a geneticist you’re out on the unusual end of the spectrum, the same way as if you had the less usual variations for the gene coding a particular chloride channel. If you have them on both alleles for the gene, you more likely than not end up with cystic fibrosis, but it’s quite possible you’re carrying one of these variants.
What’s hard to explain to the general public is that the readout of your genetic makeup is not your destiny. It just tells us the variant of the protein that will be affected by that gene being used. Then the protein acts in the context of time and the environment.
Some “mutations” (or “variants”, the geneticists like to call them, when they’re not obviously deleterious) confer selective advantage in some contexts and not in others – creamy skin and red hair is an advantage in a sun-poor environment to synthesize the maximum vitamin D under limiting circumstances. That chloride channel variation, if you’re carrying just the one copy, can confer increased resistance to cholera. In this way, the variants get transmitted. But if the world lost its ozone layer, the fairskinned would obviously have a selective disadvantage…
January 28th, 2008 at 5:54 pm
My goodness.
Thanks for all the linkies, by the way: And I enjoyed the comparison of Wikipedia with HHGTTG.
January 28th, 2008 at 6:25 pm
Alethea : I think you are missing my irony a little, but that’s OK – I think I blew it with the self deprecating misdirect to blondes and brunettes being normal! I played the out of africa card too early dammit.
In any case, without a trace of irony, scientists might happily describe being born with red hair a medical condition..like the site, but they’ll get wider acceptance with your word “variant”! Would not it be more helpful in terms of buy-in if redhead showed “category : variant” rather than the existing “category : medical condition” ?
January 29th, 2008 at 2:44 am
Geoff: Yep, the irony meter was completely off. Lack of sleep will do that to me. And it’s my fault, since I didn’t actually look at SNPedia to see what you were talking about. My preference would be for category: phenotype – then there are no value judgements at all. It’s just the readout under ordinary circumstances.
Rpg: I had read that piece some while ago but I thought the comparison was most apt and was glad to see it still online. Similar breed of acolytes who maintain the two texts, as well.
Back to grant-writing and figure layout.