Translating Data into Clinical Advice
Many researchers consider valid and affordable clinical applications of whole-genome analysis to be at least a couple of years away. Existence Genetics, however, already offers assessment of clients’ genetic predisposition toward hundreds of diseases.
While whole-genome sequencing is not yet a cost-effective way of gathering clinically relevant data, Existence’s Nexus DNA Chip tests genetic loci linked to hundreds of diseases. Brandon Colby, M.D., the firm’s founder and CEO, describes it as “an aggregation of all known loci associated with a phenotype—an increased or decreased risk of disease—as discovered by third-party research studies over the last three decades.”
The current version of the Nexus chip tests about 10,000 loci, though this number will increase as additional disease-linked genetic variants are discovered.
In addition to partnering with medical clinics, Existence offers its services through outlets such as the Equinox Fitness chain of health clubs, which offer to estimate clients’ relative risk of developing such conditions as arthritis and osteoporosis.
“If somebody has a very high risk of knee arthritis, then trainers tailor a program, such as cardiovascular exercise, that has low impact on the knees,” Dr. Colby explains. “Instead of running on the treadmill, they’re focusing on the elliptical, or on the bike, or on swimming.”
Similarly, women whose results indicate a predisposition toward osteoporosis are given extra motivation to strengthen their bones via resistance training.
For his part, Dr. Diehl worries that the promise of NGS advances will be distorted by the “hype cycle” of media organizations and profit-driven companies. Yet he remains optimistic that the public will ultimately embrace the ambitious long-term studies needed to shed further light on the genetic basis of complex diseases.
He cites a recent conversation with Danish researchers who have had good success recruiting subjects for pain studies.
“Who wants to volunteer for a study of pain?” Dr. Diehl wonders. “Good grief! But it sounds like the culture in Denmark is that people feel a responsibility that, if I and my family are going to benefit from biomedical research, I should be responsible for participating in this research. It’s not fair for me to just sit on the sidelines…and then gain the benefits of the new medicines.”