May 4, 2022

May 2022: The Clinical Variant Analysis Tool: a systematic way to assess genomic testing results

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When a clinician receives the results of genomic testing, there are several tools that can help the clinician interpret those results: guidelines from ACMG/AMP, the Quest Diagnostic Laboratory scoring system, and the ClinGen gene-disease association framework to name a few. The challenge is there’s no single tool that can synthesize all the information in a way that helps the clinician, who may be unsophisticated in genomic test interpretation, understand how to use it in their patient. Indeed, clinicians might spend hours attempting to interpret the report and still not end up with something useful for their patient.

To tackle this challenge, a team of researchers headed by Hui-Lin Chin and Nour Gazzaz, under the mentorship of medical geneticist Cornelius Boerkoel, MD/PhD and a medical geneticist at the University of British Columbia, developed a new tool called the Clinical Variant Analysis Tool. Dr. Boerkoel and Dr. Chin, a pediatrician in the division of genetics and metabolism at the National University Hospital’s Khoo Teck Puat National University Children’s Medical Institute in Singapore, discuss the tool on this month’s GenePod.