Around a decade ago, a psychologist in her mid-50s attended a wellness conference, where everyone was discussing a popular direct-to-consumer genetic testing company. The possibility of learning about the underlying genetics of her inherited traits piqued her interest. She decided to get tested, unaware that this consumer genomics company would also test genes that could reveal if she had an increased risk for serious diseases like cancer. While this woman awaited her results, her mother, then in her 70s, developed ovarian cancer.
The woman reached out to a breast specialist colleague to discuss her results. The breast specialist recommended she have medical grade testing to confirm that she did indeed have this pathogenic variant. The woman also told her mother, who lived in a different state, to ask for genetic testing from her oncologist for the same pathogenic BRCA1 variant.
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