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Missed Clues Delay Peutz-Jeghers Diagnosis

Missed Clues Delay Peutz-Jeghers Diagnosis

by Danielle Bonadies | Aug 31, 2021 | Genetic Testing Challenges in Oncology, News

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

Consumer Genomics Reveals More Than Fun Traits

by Danielle Bonadies | Aug 3, 2021 | Genetic Testing Challenges in Oncology, News

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...
Inaccurate Patient Claims Complicate Cancer Risk Management

Inaccurate Patient Claims Complicate Cancer Risk Management

by Danielle Bonadies | Jun 30, 2021 | Genetic Testing Challenges in Oncology, News

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

Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal

by Danielle Bonadies | May 28, 2021 | Genetic Testing Challenges in Oncology, News

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

BRCA1-Positive Patient Told Paternal Cancer Risk Unimportant

by Danielle Bonadies | Apr 29, 2021 | Genetic Testing Challenges in Oncology, News

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

BRCA1-Positive Breast Cancer Patient Told She’s Negative

by Danielle Bonadies | Mar 26, 2021 | Genetic Testing Challenges in Oncology, News

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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