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A Randomized Hybrid Type I Effectiveness-Implementation Study of an eHealth Delivery Alternative for Cancer Genetic

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    The eREACH 2 study compared a digital genetic testing approach to traditional counseling, finding the digital method non-inferior for increasing uptake of hereditary cancer genetic testing. This innovative model improves access to genetic services for at-risk patients.

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    Area of Science:

    • Genetics
    • Oncology
    • Digital Health

    Background:

    • Germline cancer genetic testing is crucial for risk reduction, screening, and targeted treatments.
    • Access to genetic services remains a significant barrier, leading to unidentified genetic carriers.
    • The eREACH 2 study addresses this gap by evaluating a digital alternative for genetic testing.

    Purpose of the Study:

    • To evaluate if a digital, patient-centered alternative for genetic education and results disclosure is non-inferior to traditional genetic counseling.
    • To assess the effectiveness of innovative delivery models for increasing uptake of genetic services.

    Main Methods:

    • A Hybrid Type 1 effectiveness-implementation study with a 2x2 randomized design.
    • Participants were randomized to receive genetic counseling and/or a digital intervention for pre-test and post-test counseling.
    • Primary outcomes included non-inferiority in genetic testing uptake, changes in genetic knowledge, and general anxiety.

    Main Results:

    • The digital intervention was found to be non-inferior to traditional genetic counseling in terms of uptake of genetic testing.
    • The study assessed changes in genetic knowledge and general anxiety from baseline to post-disclosure.

    Conclusions:

    • Innovative delivery models, such as the digital intervention evaluated in eREACH 2, are needed to overcome barriers to genetic services.
    • This digital approach has the potential to inform evidence-based guidelines and the standard-of-care for genetic testing delivery.
    • The findings are broadly applicable beyond oncology, potentially extending to other conditions like Alzheimer's disease.