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.
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...
Woman Without High Breast Cancer Risk Recommended Surgery
A woman in her mid-40s without a personal history of cancer came to see a breast surgeon due to her family history of breast cancer and a sister who was "BRCA...
BRCA2-Positive Healthy Young Man Recommended Mastectomy
A 20-year-old man came in to see a surgeon and get genetic testing based on a history of breast cancer and a pathogenic BRCA2 variant in the family. The man's...
Surgeon Recommends Mastectomy for Woman with RAD50 Mutation
A 42-year-old woman underwent a breast biopsy due to an abnormal mammogram. Even though the biopsy analysis yielded benign findings, the woman's family...
Unnecessary Testing Identifies BRCA2 VUS in 16-Year-Old Girl
A gynecologist ordered genetic testing for a 16-year-old girl with an unspecified breast finding and a limited family history of cancer. Genetic testing...
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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