Genetic Testing in the Era of Precision Medicine

Abstract

The Precision Medicine Initiative of 2015 promises to deliver insights on the genetic underpinnings of various complex diseases by investigating genetic and health data from over one million individuals in the United States. At the current rate of technological progress in the field of genomics, it is almost inevitable that large scale sequencing techniques become commonplace in the field of medicine. Although genotyping technologies are improving quickly, the medical establishment is still struggling with the clinical validity and utility of the vast amount of information gained from genetic testing. Some genetic variants have straightforward association with disease-risk, but most do not, and thus genetic tests pose a unique risk to patients by providing them with potentially unreliable interpretations of their genomic information. The Food and Drug Administration (FDA) is currently attempting to regulate genetic tests through their proposed framework for Laboratory Developed Tests (LDTs). After a careful consideration of the FDA’s proposed framework, I recommend that Clinical Laboratory Improvements Amendments are strengthened, a risk-based clinical utility assessment system is adopted, and the “off-label” use of LDTs is allowed. These regulatory steps should protect consumers from faulty tests, while also allowing for genomics to be usefully integrated into the medical infrastructure.