Personal Genomics

Recently, I've been running into lots of interesting discussions about genomics, and particularly personal genomics. One starting point was a discussion at work about DIY Genomics. They talk about "crowd-sourced clinical trials and personal genome apps". They work with data from sites like 23andMe, deCODEme and Navigenics.

I took a quick look at these different sites. For $99 dollars, 23andMe does a test of around a million single nucleotide polymorphisms or SNPs. Then, for $9 per month, they send you information about what your genetic makeup says about likelihood of having various health conditions, as well as providing ancestral information.

deCODEme calculates risks for 47 conditions and traits, not including ancestral analysis. It costs $1,100, but has other testing that can be reimbursable. As best as I can tell, Navigenics is only accessible through a physician, and probably isn't a good option for DIY genomics enthusiasts.

There are a few other genetic testing companies out there, such as Family Tree DNA, which, as you can guess by the name, is focused on genealogy. They have a wide range of different tests, for an assortment of prices, which you can then compare against their database.

Another site is Lumigenex. The seem to be focused on SNPs and seemed to be more expensive per SNP than some of the other sites.

Yet to me, the crowd sourcing of genomic information seems to be the most interesting, and besides DIYGenomics, there are some other very interesting sites. Genomes Unzipped seems to be one of the best sites out there. They link to DIYGenomics as well as to interesting sites like SNPedia and efforts to get people to release their personal genome information.

They also link to the Personal Genome Project. This project "hopes to make personal genome sequencing more affordable, accessible, and useful for humankind". They seek to get 100,000 to share their genetic information with them as part of the project. Kim has looked closely into this and has submitted her application. I will probably apply soon enough.

Another area where I stumbled into the genome was at the
International Essential Tremor Foundation
website. Recent studies have show links between the LINGO-1 and LINGO-2 genes and essential tremors, and apparently also to Parkinson's disease. My mother has essential tremors. My maternal aunt and my maternal grandfather both had Parkinson's. There is a study listed on the IETF website about a Mayo Clinic research project, but I called, and the person listed on the IETF website appears to no longer be at Mayo, so I'm not sure what the status of the project is.

As I thought about it, it occurred to me that I had provided genetic information, by way of a cheek swap to another medical organization. Several years ago, I registered with the National Marrow Donor Program. They look at human leukocyte antigens (HLA). I sent an email to them asking if I could get my HLA information. Fairly quickly, they sent me the information.

I am: HLA-A*02:EHTT, HLA-A*02:EHTU, HLA-B*18:DUTG, HLA-B*44:DMNV, HLA-DRB1*04:01 and HLA-DRB1*07:01. It has been interesting reading more about these antigens.

What next? Well, I'll get around to registering with the personal genome project. I'll look at DIYgenome, and Genomes Unzipped to see if there are other ways of sharing genetic information, and I'll join the call for less expensive genetic analysis. Perhaps someone will come up with a barebones, submit your spit get a million SNPs in a file that could be used for DIY genome folks.

Oh, and if you haven't registered at the National Marrow Donor Program, please do. Who knows, you could 'Be The Match' that saves someone's life.

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