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.
Full Family History Helps ID Lynch Syndrome Founder Variant
A 35-year-old man sought out genetic counseling because his mother had a pathogenic variant in MSH6. The patient's family history also revealed a paternal...
Genetic Testing Challenges in Oncology: VHL Variant in Atypical Patient Raises Management Questions
During a routine gynecogical appointment, a young woman reported that her paternal grandmother, was diagnosed with early-onset breast cancer and still...
Genetic Testing Challenges in Oncology: Broad Panel Assessment Reveals Unexpected RET Finding
A 51-year-old female pursued genetic testing because she thought her mother was diagnosed with ovarian cancer at age 30. After the testing was ordered by the...
Genetic Testing Challenges in Oncology: Patient Insists on Unnecessary Von Hippel-Lindau Testing
A doctor told a 59-year-old patient that she may have Von Hippel-Lindau syndrome (VHL) due to a personal history of polyps and family history of...
Genetic Testing Challenges in Oncology: Karyotype, Germline Clues in Somatic Diagnosis Lost in Translation
A 61-year old Jewish woman with a hematologic malignancy and a family history of breast cancer was referred to genetic counseling. As part of her work-up, the...
Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld
A patient diagnosed with metastatic, poorly differentiated, stage IIIB invasive ductal, triple-negative breast cancer was not given pre- or post-test genetic...
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.