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.
A patient with Cowden syndrome developed a neuroendocrine tumor. Cowden syndrome is a hereditary condition that causes non-cancerous tumor-like growths in the...
A woman in her 40s visited a general surgeon for non-cancer related reasons and was assessed for her hereditary risk for cancer. The patient...
During a visit with a new primary care physician, a 45-year-old man told his doctor that he had a family history of cancer and Lynch syndrome, a hereditary...
A 49-year-old woman with a maternal family history of breast cancer was seen in a high-risk breast clinic. Both her mother and grandmother had breast cancer...
During a genetic counseling session with a 35-year-old woman and her mother, it came to light that the mother received genetic testing in a non-traditional...
While reviewing the breast cancer screening recommendations for a 28-year-old woman, a nurse practitioner at a high-risk breast clinic noted incongruencies in...
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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