All I Want for Christmas Is a Personal Genome Sequence. If that seems like too much to ask from Santa, then I just want to say up front that I am not asking for my scientific thesis own genome sequence, only my husband’s. Not more that 7 or 8 years ago this type of “present” would have cost upwards of $3 billion.
It’s hard to believe that it can now be free. That’s because we signed him up as a volunteer for the Personal Genome Project, or PGP. So we will have to wait and see if Santa delivers – and it looks like it may not be this Christmas!
This all began several months ago when Mary and I attended a lecture series in Boston celebrating the retirement of Temple Smith (of the Smith-Waterman algorithm).
Mary highlighted this meeting on the blog here.
Among the distinguished list of speakers was George Church, a Harvard Medical School genetics professor, and a founder of PGP. After hearing him speak in detail about this project I thought how neat it would be to volunteer. They are aiming to enroll 100,000 volunteers now. The PGP website provides a nice outline of the volunteering process, and also presents the data for the 10 volunteers who have already gone through the entire process (including George Church and several other prominent local professors, i.e. the PGP-10). You can look through all of the information that the PGP-10 volunteers have provided by viewing their public profiles on the PGP website. So much detail is there – vital signs, medications, entire medical history, age, major traits, ancestry, and more. Upon viewing all of these details I decided I was not quite brave enough to volunteer yet (particularly after seeing the enlarged facial pictures of the volunteers from a variety of angles), yet my husband jumped at the prospect. I am altruistic, but it just seemed that this would be a good thing for him to try first.
So we began the PGP enrollment process several months ago. This is not an easy or quick process at all. There are a ton of consent/disclaimer-type forms, very involved medical and family history questions to answer, and general trait profiles. In addition, there are a series of tests that you must take (and pass) in order to prove that you are familiar with the process that is going to take place, as well as to demonstrate a basic knowledge of genetics. And let me just say that a Ph.D. in molecular biology didn’t seem to be enough to breeze through their “basic” tests. Eventually we did pass. And they do provide study guides so you really need to just swallow your ego – the phraseology and questioning is very unusual on their tests. They also have a neat testing method that certainly wasn’t around when I was in graduate school. You can keep resubmitting your answers until they are correct. They don’t tell you which answers are wrong, only that you didn’t get the entire test right, but with some patience anyone can pass all of the individual tests (there may have been about 10). We then continued on to another series of forms, tests and waiting periods. Currently, we are in one of the several 2-4 week waiting periods, and could still be rejected at any point. It would be quite frustrating to be rejected now because it really is a reasonable amount of work to enroll in this.
My main concern now is that the folks at PGP will reject my husband on the basis of him being a rather boring genetic specimen. They freely admit to giving preference to older individuals, people with an exome already, “under-represented categories”, and those with known common or rare genetic conditions. Check out the eligibility/selection criteria. The most exciting – and only – genetic issues we could come up with for him were allergies and eczema. And his demographic (early forties, white male) probably won’t help either. I imagine that to be one of the most highly populated groups of applicants. My only hope is that his 100% Italian heritage may add some genetic interest, but we shall see.
For any of you who would like to read more about this, George Church just published an article in Newsweek entitled The Genome Generation, the case for having your genes sequenced. In it he really makes a strong case for having your genome sequenced, as well as for being totally open with all of your medical and genetic background information. Probably volunteers are pouring into PGP now. My favorite part of this article is his quote that the message is not “Here’s your destiny. Get used to it! Instead it’s here’s your destiny and you can do something about it.”
What a Christmas present a genome sequence would be…maybe next year.
Merry Christmas and Happy New Year to all of you!