In the Journal of Medical Genetics, investigators at the Institute of Cancer Research, Royal Marsden NHS Foundation Trust, and other centers in the UK consider the effectiveness and experience of a relatively speedy digital pathway for germline BRCA1, BRCA2, and PALB2 testing in breast cancer patients. Through a broader study known as BRCA-DIRECT, the team did a pilot study focused on a genetic specialist hotline-supported digital germline testing pathway as an alternative to conventional genetic testing and counseling. In 130 breast cancer patients randomized to receive BRCA1/BRCA2/PALB2 test results digitally or through a telephone consultation, the authors saw an overall testing uptake of more than 98 percent, with comparable patient knowledge and experience scores between the BRCA-DIRECT digital pathway and the partially digital telephone consultation approach. "Pilot data indicate preliminary demonstration of feasibility and acceptability of a fully digital pathway for BRCA-testing and support proceeding to a full powered study for evaluation of non-inferiority of the fully digital pathway, detailed quantitative assessment of outcomes, and operational economic analyses," they write.
UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer
Nov 23, 2022