JMIR Publications

ABSTRACT

Background:

Germline BRCA1/2 testing has become a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With FDA approval for PARP inhibitors in patients with advanced breast, ovarian, pancreatic and prostate cancer, there is an additional therapeutic rationale for testing all breast, ovarian, pancreatic and prostate cancer patients for germline BRCA1/2 mutations. Yet, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified.

Objective:

The eREACH study (A Randomized Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Metastatic Breast, Ovarian, Prostate and Pancreatic Cancer Patients) evaluates the effectiveness of a theoretically and stake-holder informed eHealth (e.g. digital) delivery alternative to traditional genetic counseling in patients with advanced breast and ovarian cancer referred for genetic testing to determine if they are candidate for a PARP inhibitor.

Methods:

The eREACH study is a randomized non-inferiority study using a 2x2 design to test the optimal way to deliver clinical genetic testing in patients with metastatic cancers. The traditional standard-of-care pre-test (visit 1) and post-test (visit 2: disclosure) counseling delivered by a genetic counselor are replaced with a self-directed patient-informed digital intervention.

Results:

As of January 2025, we have completed enrollment of 229 participants. Data analysis is ongoing and we expect the results to be published in June 2025.

Conclusions:

Increasing indications for BRCA 1/2 testing creates a pressing need to evaluate alternative delivery models to increase access and uptake of BRCA1/2 testing, while maintaining adequate patient cognitive, affective and behavioral outcomes. The eREACH study evaluates the effectiveness of an interactive patient-centered digital intervention to deliver clinical genetic testing to patients with metastatic cancers. We expect this work will inform evidence-based guidelines and the standard-of-care for delivery of genetic testing and is designed to be broadly applicable and easily adaptable for other populations and settings even beyond oncology. Clinical Trial: This protocol was registered at clinicaltrials.gov (NCT04353973) on April 14, 2020.