NEWS
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BRCA1 Variant Downgraded After Risk-Reducing Surgery
A 27-year-old woman, who five years earlier had learned she harbored a pathogenic variant in the BRCA1 gene, was now considering removing her breasts and ovaries to reduce her risk for breast and ovarian cancer. She came to see a genetic counselor to discuss her...
Missed Clues Delay Peutz-Jeghers Diagnosis
A woman in her 40s had surgery to remove a gynecologic tumor. During the procedure, the surgeon noted that she had numerous polyps in her small intestine that may be causing it to undergo intussusception, meaning one section of bowel slides into the next. The surgeon...
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...
Healthcare Providers Adjust to Anti-Information Blocking Regulation Impact on Patient Interactions
Doctors, particularly oncologists, are worried that the US government’s anti-electronic health information blocking regulations that went into effect four months ago are disrupting their already overstretched schedules and interactions with patients.
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...
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,...
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...
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...
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...