Broad panel genetic testing in patients with cancer finds 2.8% of variants are unexpected

Hereditary factors can increase a person鈥檚 risk for cancer. Genetic testing is a tool used to determine an individual鈥檚 genetic risk profile and approximately 10-15% of people with cancer who undergo genetic testing have a genetic mutation. In the past, the high cost of genetic testing and limited clinical impacts led to low numbers of patients receiving genetic testing. More recently, the onset of new genetic technologies has resulted in more affordable and clinically impactful genetic screening including the use of broad-based germline multigene panel testing. The identification of cancer risk genes from genetic screening may impact an individual鈥檚 treatment, cancer screening, and recommendations for testing of family members. 

Now, new work by Kara Landry, MD, and colleagues at Dana-Farner Cancer Institute published in JCO Precision Medicinefinds in an analysis of 10,975 patients with cancer, 2.8% of the genetic variants (mutations) were not predicted based on patient's personal cancer history alone, and 1.7% remained unsuspected after family cancer histories were considered.

The results of this study may justify consideration of broader panel testing in patients with cancer, given implications for subsequent surveillance, cascade testing, and treatment options dependent on specific findings.  

Learn more about this study by reading the full article . 

 

Landry Genetic Testing Paper Diagram