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.
Genetic Testing Challenges in Precision Medicine: Lab Fails to Report NF2 Mosaic Variant
When a Lab Stays Silent: A Missed Mosaic Variant and a Four-Year Diagnostic Odyssey 2026 A 10-year-old girl with bilateral vestibular schwannomas had a...
Genetic Testing Challenges in Precision Medicine: Second Testing Round Reveals Atypical CF
This cystic fibrosis genetic testing case from My Gene Counsel's Genetic Testing Challenges in Oncology series shows how genetic counselors can catch complex,...
Genetic Testing Challenges in Precision Medicine: Inadequate Relay of Test Limits Delays Diagnosis
Genetic Testing Challenges in Precision Medicine: Inadequate Relay of Test Limits Delays Diagnosis January 27, 2026 A Cascade Testing Failure Traced to a...
Genetic Testing Challenges in Precision Medicine: DNA, RNA Sequencing Picks Up Intronic NF1 Variant
This case is part of our ongoing Genetic Testing Challenges in Oncology series, which examines how gaps in genetic testing and communication can delay...
Genetic Testing Challenges in Precision Medicine: STK11 Classification Maintains Misdiagnosis
This case is part of our ongoing Genetic Testing Challenges in Oncology series, which examines how gaps in genetic testing and communication can delay...
Genetic Testing Challenges in Precision Medicine: After Abnormal NIPT, Retest Causes Confusion
This case is part of our ongoing Genetic Testing Challenges in Oncology series, which examines how gaps in genetic testing and communication can delay...
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.
