An Evidence Framework for Genetic Testing: Summary of the 2017 NASEM Report | Genetics and Genomics | JAMA | The JAMA Network

An Evidence Framework for Genetic Testing: Summary of the 2017 NASEM Report | Genetics and Genomics | JAMA | The JAMA Network

June 1, 2017

No Shortcuts on the Long Road to Evidence-Based Genomic Medicine

Muin J. Khoury, MD, PhD¹

Author Affiliations Article Information

JAMA. Published online June 1, 2017. doi:10.1001/jama.2017.6315

Rapid advances in genomics have led to a new era of precision medicine, resulting in a substantial increase in the number of genetic tests available for research and clinical practice. As of April 27, 2017, the Genetic Testing Registry,¹ maintained and updated by the National Institutes of Health, contained information on 49 521 tests conducted at 492 laboratories for 10 733 disease conditions involving 16 223 genes. These tests cover a wide variety of diseases, rare and common, for different types of applications such as diagnosis, treatment, and prevention.