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.
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...
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...
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...
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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