National Study to Examine Risks, Benefits in Emergent Whole Genome Sequencing

Improving technologies are rapidly cutting the cost of whole genome sequencing, a process that reveals the complete library of a patient’s genetic information. Indeed, the era of the $1,000 genome — a catchphrase for the test’s relative affordability — appears imminent.

Kathryn Phillips, PhD

But will the wider application of this encyclopedic option in personalized medicine help patients and health care providers prevent and more effectively treat diseases, or will it open a Pandora’s Box of confusion, fears, and costly, unnecessary treatments?

UCSF School of Pharmacy faculty member Kathryn Phillips, PhD, will lead the first national study to analyze how physicians and patients in the general population, as well as those given whole genome sequencing results in a clinical trial, evaluate the benefits and risks posed by this profusion of genetic information. The project will address questions such as:

• How much do patients want to know?
• How do patients and physicians assess the significance and usefulness of these tests’ myriad potential findings?
• Which findings call for medical intervention versus monitoring?
• What about likely future conditions that currently cannot be treated?

The four-year, $2.4 million project, “Benefit-Risk Tradeoffs for Whole Genome Sequencing,” recently funded by the National Human Genome Research Institute (NHGRI), will also be the first to systematically examine the overall implications of such testing for the health care system and for society by considering, for example:

• When should complete genome sequencing be recommended by health care providers and covered by insurers as clinically useful?
• Will the economic value of preventing disease or more effectively targeting treatments outweigh the costs of the initial whole genome sequencing testing, plus additional testing and treatments its results may generate?
• How can whole genome sequencing findings be most appropriately and effectively applied?

Read more on the UCSF School of Pharmacy's website.