A recent study examining the entire genome of a family of four underscores the benefits that genetic sequencing may yield for preventive care, the Wall Street Journal reports.
The study was led by Stanford University researchers and published in PLoS Genetics with two unusual co-authors: John and Anne West, a father-daughter pair who helped the researchers sequence the West family's genomes.
John West was born with a mutation on the Factor V gene that increases blood clot risks and, in 2003, he suffered two pulmonary embolisms. His daughter, then a high-school senior who inherited the mutation, began to analyze their family's genomes to determine their genetic similarities and how traits were passed down.
With the researchers' help, John and Anne were able to assess gene interactions and disease development in their four-person family. The study, only the second to be published about a family's full genome, revealed that Anne had inherited two mutations from her father that increase her embolism risk, as well as one mutation from her mother associated with thrombophilia. It also revealed that all four family members face a higher risk of psoriasis.
Armed with knowledge obtained from their genome sequence, the West family has made lifestyle changes to avoid future problems. In addition, researchers were able to use John West's genetic information to predict his warfarin dosage. They also determined that a certain blood thinner would increase Anne and her mother's bleeding risk, an important finding in the event that Anne develops thrombophilia.
The benefits from sequencing one day could be conferred on others, the Journal reports. John West is now the CEO of Personalis, a biotech company started by the researchers that offers whole-genome sequencing. Although the links between diseases and genetic variations are still being determined, he notes that sequencing can help people make changes that reflect some health risks (Marcus, Journal, 9/16).