January 13, 2020 | Nature Medicine

When Variants Are Reclassified—The Importance of Personalized Communication

By Madison Kilbride, PhD

"When I received an e-mail notifying me that the report for my genetic test was 'ready,' I was surprised; I had taken the test three years ago and tested positive for a BRCA1 gene mutation. This puts me at a significantly increased risk of developing breast and ovarian cancer compared to the general population. My first thought, upon reading the e-mail, was that it was a system error. Out of curiosity, I logged into my account. After clicking through multiple links, I realized that the e-mail was not a glitch but rather a reclassification notice—my mutation had been upgraded from 'likely pathogenic' to 'pathogenic.'”

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