You may have heard rumblings about something called SNPedia. I finally got around to checking it out the other day.
SNPedia has been called the ‘Wikipedia for DNA’ and to me it kind of seems like OMIM, but for SNPs. It is an online crowdsourced and publicly accessible database where you can find ‘information about the effects of variations in DNA, citing peer-reviewed scientific publications.’ SNPedia is totally independent of the companies that are selling DNA sequencing or microarray testing, and they are often consulted by people who are looking for a second opinion on a result reported in their DTC report. SNPedia is affiliated with a tool called ‘Promethease,’ which helps build a free report (in 3 hours!) for you based on your uploaded SNP-based data. Promethease can be used to pool the results for people who have data from multiple online SNP-based testing services (23andMe, Navigenics, deCODEme). (Side note: I wonder how many people have purchased SNP-based testing from multiple online companies?)
Interestingly, in browsing the SNPedia FAQ page I stumbled upon this question:
“Can you refer me to a physician or a genetic counselor to discuss my SNP testing results?”
Not yet. If you are a qualified physician or genetic counselor interested in helping individuals interpret their genomic test results or Promethease report please email us at email@example.com.
I wondered if they have had any takers, so I sent an email. I learned that they had heard from one interested genetic counselor in past, but due to issues with the GC’s institutional policies regarding referrals they were unable to make it work. In addition, they have had interactions with a handful of GCs who have contacted them to discuss results on a specific case they’ve been involved with.
I asked Greg Lennon, Co-Founder and Director of SNPedia how he envisions a genetic counselor might be able to collaborate with SNPedia. Here is his response:
We (SNPedia) welcome their input, especially in the form of edits to entries to improve their utility to other GCs and health care professionals (and of course, members of the public), but GCs should always also feel welcome to just email us (firstname.lastname@example.org) with suggestions of any type, whether for edits they won’t or can’t do, or for features they’d like to see added to either SNPedia or it’s companion software, Promethease.
By now we all know that the cost of sequencing the genome isn’t going to be the major barrier in accessing our genomic data. It is going to be the interpretation of that data. SNPedia seems like a huge step forward in making sense of the wave of genomic info that is coming our way. And I think that our community has an opportunity here to help influence the way in which this information is delivered.
I’m interested to hear if any of you have experience with SNPedia, and what your thoughts are on their service, reporting etc. Also, if you have questions or suggestions about how GCs can collaborate with this service, please leave a comment below. As Bob Resta recently pointed out, ‘comments are what make blogs interesting.’