Genetic Testing Challenges in Oncology
A case series in partnership with My Gene Counsel to highlight the challenges genetics professionals and oncologists are grappling with as genetic testing is increasingly used in patient care. If you would like to submit a case report, please email [email protected].
These cases are aggregated and used to support a series of articles published in peer-reviewed journals, viewable here. Clinicians who submit cases that are used in published articles have the option of submitting under their name/institution or remaining anonymous.
Genetic Testing Challenges in Oncology: Patient Insists on Unnecessary Von Hippel-Lindau Testing
A patient with various health concerns insists on VHL genetic testing after a doctor suggests her symptoms seem to fit those caused by the inherited condition.
Genetic Testing Challenges in Oncology: Karyotype, Germline Clues in Somatic Dx Lost in Translation
Somatic testing of patient with hematologic malignancy leads to discovery of critical chromosomal and germline findings that she didn't know about.
Genetic Testing Challenges in Oncology: Patient With Pending Bill Has BRCA1 Result Withheld
A patient of African-American descent with triple-negative breast cancer cannot get her genetic test results from a surgeon's office because of an outstanding bill.
Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis
An oncologist doesn't alert a young woman that a TP53 variant she inherited has been upgraded to pathogenic classification, which delays recommended cancer screening and cascade testing.
Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results
The patient's personal and family history and genetic test results didn't indicate he was at high risk for colon cancer, yet he was having annual colonoscopies per a dermatologist's orders.