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.
Laboratory Consolidation, Billing, Digital Tools, and Skillset Adaptation: The Evolving Future of Genetic Counseling and Testing
My Gene Counsel CEO Ellen Matloff will be leading a panel of genetic counselors on the future of genetics in precision oncology and the essential roles...
Genetic Testing Challenges in Precision Medicine: Parents’ Tragedy After Wrong Tay-Sachs Test Order
A 29 year-old Ashkenazi Jewish woman completed pre-pregnancy carrier screening and was found to be a carrier for Tay-Sachs and Spinal Muscular Atrophy (SMA)....
Genetic Testing Challenges in Oncology: Lynch Syndrome Variant in Patient Lacking Family History
A primary care doctor referred a 39-year-old Ashkenazi Jewish woman for genetic counseling because of a known familial BRCA2 variant. The patient was also...
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...
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.