Consumer Genomics Reveals More Than Fun Traits

Consumer Genomics Reveals More Than Fun Traits

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...

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Inaccurate Patient Claims Complicate Cancer Risk Management

Inaccurate Patient Claims Complicate Cancer Risk Management

A 46-year-old woman who claimed to have pathogenic variants in both BRCA1 and BRCA2 genes and a strong family history of breast cancer came to a surgeon seeking risk-reducing mastectomies. Although this woman did not have breast cancer, based on her account of her...

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Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal

Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal

A 36-year-old, non-English-speaking, female emigrant from the Middle East came to see a genetic counselor at a California healthcare system in 2019. She had recently moved to the state, and in the process of reestablishing care at a large academic healthcare facility,...

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BRCA1-Positive Patient Told Paternal Cancer Risk Unimportant

BRCA1-Positive Patient Told Paternal Cancer Risk Unimportant

In the summer of 2019, a genetic counselor at an academic healthcare facility saw a 39-year-old African American woman who had been recently diagnosed with invasive ductal carcinoma. A mammogram and subsequent biopsy of the lump she had felt on her left breast turned...

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BRCA1-Positive Breast Cancer Patient Told She’s Negative

BRCA1-Positive Breast Cancer Patient Told She’s Negative

A 57-year-old woman with breast cancer was referred by her surgeon to see a genetic counselor because this was her second breast cancer diagnosis. Three years earlier, this patient had been tested for inherited pathogenic variants in BRCA1 and BRCA2 genes associated...

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Forged Genetic Test Report Leads to Incorrect Management

Forged Genetic Test Report Leads to Incorrect Management

A 24-year-old woman came to see a genetic counselor to discuss her inherited risk for breast cancer. She claimed she had undergone genetic testing at age 16 due to a strong history of breast cancers on her mother's side of the family and had a pathogenic variant in...

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My Gene Counsel Quoted in The Philadelphia Inquirer

My Gene Counsel Quoted in The Philadelphia Inquirer

Many supposed breast cancer risk genes don’t raise risk, studies find By Marie McCullough for The Philadelphia Inquirer In the quarter century since the watershed discovery of BRCA1 and BRCA2, dozens of other genes have been implicated in hereditary breast cancer. A...

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