GENETIC TESTING CASE SERIES
My Gene Counsel collects cases in which genetic tests were recommended, ordered, interpreted, or used incorrectly and/or in which clinicians faced challenges related to history/reports provided by patients/laboratories. These cases are aggregated and used to support a series of articles published in peer-reviewed journals. Clinicians who submit cases that are used in published articles will have the option of submitting under their name/institution or remaining anonymous.
To submit a case, email the following information to info@mygenecounsel.com:
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- Key medical and family history (note/pedigree if available)
- Genetic testing performed/recommended and result
- Explanation of challenge/error and how it was handled
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Genetic Testing Challenges in Oncology
A monthly case series in partnership with GenomeWeb’s Precision Oncology News to highlight real-world issues that genetics professionals and oncologists are encountering as genetic testing is increasingly used in cancer care. In publishing this series, our aim is to educate experts in the field and foster discussion.
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...
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...
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...
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...
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...
Peutz-Jeghers Misdiagnosis Causes Medical, Family Confusion
Twenty years ago, a 45-year-old woman with a recent diagnosis of breast cancer went to see a dermatologist, who noted hyperpigmentation of her lips. The...
Peer-Reviewed Journal Articles
An ongoing case series documenting challenges and errors in genetic counseling and testing and the impact on medical liability, healthcare costs, and patients and their families. Increased access to and complexity of genetic information, often without genetics expertise, continue to contribute to such challenges.
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