Letting the Genome out of the Bottle — Will We Get Our Wish?

TLDR

Personal genomics services are being offered directly to consumers, illustrated by a patient who, despite being overweight and sedentary, presents with a whole‑genome SNP analysis in a clinical setting. The analysis was obtained as a $1,000 holiday gift from the patient's concerned children. The report indicates increased risk of heart disease and diabetes, but the company cautions that the test is not a clinical service. Download it may happen soon.

Abstract

Interview with Muin Khoury on personal genomics services being offered directly to consumers. (06:45)Download It may happen soon. A patient, perhaps one you have known for years, who is overweight and does not exercise regularly, shows up in your office with an analysis of his whole genome at multiple single-nucleotide polymorphisms (SNPs). His children, who were concerned about his health, spent $1,000 to give him the analysis as a holiday gift. The test report states that his genomic profile is consistent with an increased risk of both heart disease and diabetes, and because the company that performed the analysis stated that the test was "not a clinical service to be used as the basis . . .