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Call to Share

The American College of Medical Genetics and Genomics has called on Myriad Genetics and other companies to share the genetic data they have collected to enable a better understanding of what genetic variants may be pathogenic, the Wall Street Journal reports.

This, it adds, comes on the heels of a separate Journal article that recounted how seven women in one family had surgery after testing found them to have a BRCA gene variant that placed them at a high risk of developing cancer, only to have that variant later downgraded from pathogenic to a variant of uncertain significance. 

Myriad's database, the Journal notes, is one of the most extensive, as it had a monopoly on BRCA testing until 2013. It adds that while some labs share information on variants in ClinVar — which help genetic counselors, physicians, and researchers gauge the significance of certain variants — Myriad and some other labs do not. 

According to the Journal, ACMG in a statement urges Myriad "to end its practice of maintaining a proprietary classification database and to join the international community of genetic testing laboratories who share classifications in the best interests of all patients."

In response, Myriad tells the Journal that it disagrees with the statement and that it shares information on variants at scientific conferences and in published papers, and that physicians, genetic counselors, and patients can contact them to get more information about particular variants.