A New Era In The Interpretation Of Human Genomic Variation

By Scienmag On Jul 17, 2017

In a commentary published today in Genetics in Medicine, Heidi Rehm, PhD, highlights the pressing need for standardized human genomic variant interpretation and calls on more stakeholders to join the data sharing movement.

"It is time we considered the sharing of variant interpretations a fundamental right of patients to ensure that they receive accurate clinical care," writes Rehm. "We must ensure that the professional opinion of geneticists is based on a fully shared body of evidence with open and ongoing community review, and that we support this endeavor in a cost-effective manner."

Rehm is the principal investigator of ClinGen – the Clinical Genome Resource – which has launched a public list of genetic testing labs that meet minimum data sharing requirements this week. Payers are beginning to require data sharing as a condition of reimbursement – some providers are ordering tests only from labs that are on the ClinGen list.

Rehm is available to speak with media about her commentary and the changing landscape of human genomic variant interpretation.