UCSF

UCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS) Addresses Rapid Evolution of Genomic Sequencing in two Washington Post Articles

Two recent articles in the Washington Post demonstrate the increasing interest in genetic tests – particularly those using genomic sequencing – and how the work being done by TRANSPERS is addressing the complex health policy decisions that will have to be made as these tests are more widely used.

In Rapid genome sequencing could revolutionize health care for acutely ill babies, TRANSPERS founder and director, Kathryn Phillips, commented on the use of rapid sequencing in acutely ill babies in the neonatal intensive care unit. Being able to rapidly diagnosis babies could revolutionize their care, as illustrated by the case of baby “Maverick,” who was diagnosed with a form of epilepsy easily treatable with vitamin B6 supplements, after both baby and parents underwent whole genome sequencing.

Phillips acknowledges the potential of the technology but points out that doctors need to be able to identify which patients will receive the most value, as “it’s unlikely we can help all babies with rapid sequencing, as not all patients are like Maverick.” Phillips further explains that for some patients, getting a diagnosis sooner won’t change their course of treatment, and some babies have conditions that don’t have treatments.”

This article follows another recent article by the Post on the rapid influx of genetic tests: Medicine’s Wild West: 10 new genetic tests enter the market each day. Dr. Phillips discussed work by the TRANSPERS Center, published in Health Affairs, on the volume of genetic tests on the market and how complicated it is to sort out what test to use, when, and how much to pay for it: Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

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