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.
Prior Retinoblastoma Not Considered in Test Ordering
A woman in her 20s was concerned about her risk for breast cancer because her mother had previously had it. She saw a medical oncologist and wanted to be...
No Follow-up on Insurer Denial Delays Cancer Risk Management
A 44-year-old woman with breast cancer came to see a surgeon to discuss risk-reducing surgical options. Three years earlier, she had also been diagnosed with...
Same Multigene Cancer Risk Panel Not Right for All
A 60-year-old woman with breast cancer and a history of various cancers in her family came to see a genetic counselor to discuss genetic testing to guide her...
BRCA1 Variant Downgraded After Risk-Reducing Surgery
A 27-year-old woman, who five years earlier had learned she harbored a pathogenic variant in the BRCA1 gene, was now considering removing her breasts and...
Missed Clues Delay Peutz-Jeghers Diagnosis
A woman in her 40s had surgery to remove a gynecologic tumor. During the procedure, the surgeon noted that she had numerous polyps in her small intestine that...
Consumer Genomics Reveals More Than Fun Traits
Around a decade ago, a psychologist in her mid-50s attended a wellness conference, where everyone was discussing a popular direct-to-consumer genetic testing...
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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