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 firstname.lastname@example.org:
- Key medical and family history (note/pedigree if available)
- Genetic testing performed/recommended and result
- Explanation of challenge/error and how it was handled
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 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...
Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis
A woman with a history of breast cancer and a family history of pancreatic cancer was diagnosed with Cushing's disease. She was referred to a genetic...
Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results
A dermatologist's misdiagnosis of a patient with Lynch syndrome, a type of inherited cancer predisposition syndrome, led to unnecessary colonoscopies and...
Doc Tells Patient with Familial Risks to Get DTC Testing
A woman experiencing joint and mobility issues turned to holistic medicine after feeling that her regular doctors weren't adequately addressing her health...
Muddled Reporting, Interpretation of PALB2 VUS
A woman's physician ordered multi-gene panel testing due to her family history of cancer and told her that the lab had found two "errors" in the PALB2 gene....
Myotonic Dystrophy Signs Missed in Uterine Cancer Patient
An oncologist referred an endometrial cancer patient to a genetic counselor because she was diagnosed at a young age – before age 50. The patient had already...
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.