SNP for personal genomics
“Genetics just got personal. Don’t worry. We’re here to help.” This is a slogan for personal genomics. Over a year ago, Iceland’s deCODE Genetics kicked off a new era in personalised genetics with the launch of a direct to consumer service dubbed deCODEme. And a few days later, California’s 23andMe launched its own service. In November 2008, that company’s service was named Time magazine’s invention of the year.
For less than $1000, deCODE and 23andMe offered customers the opportunity to take a gander at their unique genetic quirks and glitches, as revealed by the identities of more than 500,000 single nucleotide polymorphisms (SNPs). Such services would have been unthinkable just two years ago, before the explosion of genome-wide association studies (GWAS) began pinpointing susceptibility genes for common, complex diseases such as cancer, heart disease, diabetes, and mental illness.
The proselytisers of personal genomics acknowledge that these services are works in progress.
Last year, deCODE Genetics co-founder Jeffrey Gulcher, 48, reviewed his deCODEme data, which indicated he had a doubled lifetime risk for prostate cancer. Even though his PSA levels were fairly normal, Gulcher ended up getting a biopsy that revealed a grade 6 (Gleason scale) prostate carcinoma, which was successfully resected.
“This test may have saved his life,” deCODE CEO Kari Stefansson said.
The co-founder of Navigenics, Los Angeles physician David Agus, received similarly alarming results when he took his firm’s Health Compass analysis – an 80 per cent risk of a heart attack. He told guests at the Navigenics launch party that he began taking appropriate lifestyle, dietary and medical action.
Sergey Brin, the co-founder of Google and husband of 23andMe co-founder Anne Wojcicki, recently disclosed that he carries a mutation in a Parkinson’s disease susceptibility gene called LRRK2. By searching all of his genotyped LRRK2 SNPs through his 23andMe account, Brin learned that he carried the same point G2019S mutation as his mother, who has Parkinson’s.
