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.
Assuming All Labs Are Equal Gives False Reassurance of Risk
An oncologist began seeing a new patient – a woman who had previously had breast cancer, received genetic testing, and reported having a family history of...
Lynch Syndrome Patient Has Ovaries, Uterus Removed at Age 22
After seeing multiple members of a family with late-stage cancers at young ages, their oncologist suspected that these malignancies may be due to Lynch...
Missed Mutations Highlight Somatic, Germline Test Difference
A patient with Cowden syndrome developed a neuroendocrine tumor. Cowden syndrome is a hereditary condition that causes non-cancerous tumor-like growths in the...
Patient with BRCA1 VUS Has Prophylactic Surgery
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...
Confusion Over Colon Cancer Syndromes Leads to Wrong Testing
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...
Patient Told Genetic Test Was Negative Turns Out to Be MAP Carrier
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...
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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