Stephen Quake had his genome sequenced a year ago and since then he and 30 collegues have been working on the medical aspects of this huge amount of data. They try to make connections between genetic background and medical decisions. The results they found were published in The Lancet.
Analysis of 2·6 million single nucleotide polymorphisms and 752 copy number variations showed increased genetic risk for myocardial infarction, type 2 diabetes, and some cancers. We discovered rare variants in three genes that are clinically associated with sudden cardiac death—TMEM43, DSP, and MYBPC3. A variant in LPA was consistent with a family history of coronary artery disease. The patient had a heterozygous null mutation in CYP2C19 suggesting probable clopidogrel resistance, several variants associated with a positive response to lipid-lowering therapy, and variants in CYP4F2 and VKORC1 that suggest he might have a low initial dosing requirement for warfarin. Many variants of uncertain importance were reported.
Quake told the media that: “We’re at the dawn of a new age in genomics.”
“Information like this will enable doctors to deliver personalized health care like never before,” he added, explaining for example, that it will help fine tune care so that patients at higher risk get closer, more relevant surveillance and patients at lower risk are spared unnecessary tests.