A new survey of nearly 200 genetics professionals indicates there is a strong demand for a comprehensive database with standardized metrics to support using functional evidence in clinical variant interpretation. In addition, respondents voiced the need for clear guidelines on how to handle conflicting functional data in variant classification.
Results of the survey were published in June in the paper, “Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation,” in the American Journal of Human Genetics. BBI’s Dr. Andrew Stergachis, M.D., Ph.D., and Lea Starita, Ph.D. are the corresponding authors; several BBI and UW Medicine faculty are among the contributors.
“Variants of uncertain significance are one of the major barriers to precision medicine,” said Starita, an Associate Professor in the Department of Genome Sciences at UW Medicine. “Functional evidence has the potential to overcome this barrier entirely.”
