Lab moves genomic testing into the clinic

2 min read

The earliest symptom of the inherited heart condition hypertrophic cardiomyopathy can be sudden death at a tragically young age. Harvard Medical School researchers discovered the first human gene underlying the disorder 15 years ago, but clinical genetic testing to identify those people at risk just became available last year.

About the same time, another genetic test emerged to detect the one in 10 lung cancers susceptible to certain new targeted drugs, within months of reports by two HMS teams that these drug-responsive tumor cells have mutations in a key signaling domain of their epidermal growth factor receptors (EGFRs).

A set of genetic tests to diagnose inherited kidney disorders is in the pipeline. Other genetic tests for a family of liver enzymes that determine how fast people metabolize hundreds of commonly prescribed drugs from beta blockers to codeine are being considered to help doctors titrate doses and predict side effects more precisely than the trial-and-error method favored now.

It may surprise doctors that these genetic tests are not solely for research anymore and that they are available locally. This fast- growing menu displays the efforts of the Laboratory for Molecular Medicine (LMM) in Cambridge to push the fruits of genomic and genetic research into the clinic in hopes of refining the diagnosis and treatment of common diseases, such as heart disease and cancer.

“We want to use the lab as a test bed to show that it is possible to take genetic knowledge discovered by one of our people or someone else around the country and show that testing can actually make a difference in caring for people,” said Raju Kucherlapati, scientific director of the Harvard Medical School Partners Healthcare Center for Genetics and Genomics and the Paul C. Cabot professor of genetics at HMS.

Opened for business two years ago, the nonprofit clinical diagnostic lab offers more than two dozen tests for genes underlying hearing loss, cardiovascular disease, and cancer. Lab staff add new tests using an informal matrix of perceived clinical usefulness, scientific evidence, and cost. Many tests include genes discovered or studied extensively by HMS faculty advisers, but the lab is increasingly providing more genetic tests of clinical relevance independent of their institutional origin.

“We are driven to a great degree by the needs of clinicians,” said molecular geneticist Peter Verlander, associate director of strategic development for LMM.