A Randomized Hybrid Type I Effectiveness-Implementation Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2): study protocol
7 affiliations
- 1Division of Hematology- Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA USA
- 2Department of Biostatistics and Bioinformatics, Fox Chase Cancer Center, Philadelphia, USA
- 3Fox Chase Cancer Center, Cancer Prevention and Control, Philadelphia, PA USA
- 4Department of Medical Oncology, Thomas Jefferson University Hospital, Philadelphia, USA
- 5University of North Carolina, Chapel Hill, NC USA
- 6Department of Health Behavior & Health Equity, School of Public Health, University of Michigan, Ann Arbor, MI USA
- 7Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA USA
Abstract
Background: Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. There are also targeted treatments for some genetic carriers with cancers such as breast and ovarian cancer. Yet, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified. The eREACH 2 study (A Randomized Hybrid Type I Effectiveness-Implementation Study of an eReach Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer) evaluates whether an interactive, patient-centered digital alternative for genetic education and disclosure of results is non-inferior compared to the traditional model of pre- and post-test counseling with a genetic counselor.
Methods: This is a Hybrid Type 1 effectiveness implementation study in which participants are randomized using a 2 × 2 design to test a self-directed, patient-informed, digital intervention to deliver clinical genetic testing versus the traditional pre-test (visit 1) and post-test (visit 2: disclosure) counseling delivered by a genetic counselor. The 4 arms include (A) genetic counselor for visit 1 and visit 2, (B) genetic counselor for visit 1 and digital intervention for visit 2, (C) digital intervention for visit 1 and genetic counselor for visit 2, and (D) digital intervention for both visits. Participants are adults who meet National Comprehensive Cancer Network and/or American Society of Clinical Oncology guidelines for germline genetic testing and are recruited from both community and medical sites across the United States by way of clinician referral as well as patient self-referral. The primary outcomes are non-inferiority in uptake of genetic testing and change in genetic knowledge and general anxiety from baseline to post-disclosure.
Discussion: With many barriers to accessing genetic services, innovative delivery models are needed to address these gaps and increase uptake of genetic services. The eREACH2 study evaluates the effectiveness of an interactive patient-centered digital intervention to deliver clinical genetic testing. 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 (e.g. Alzheimer’s disease).
Trial registration: This protocol was registered at clinicaltrials.gov (NCT05427240) on 6/7/2022.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s12885-026-16620-z.
Related
- Effectiveness of community-based delivery of mass dog vaccination to prevent rabies: A cluster randomized controlled trial
- Berotralstat Tolerability and Effectiveness in Hereditary Angioedema: Berolife Study Results
- Comparing the cost-effectiveness of alternative policies for recommending and providing HIV pre-exposure prophylaxis to men who have sex with men in the EU
- Cost and cost-effectiveness of alternative screening and diagnostic pathways for achieving hepatitis C elimination in the country of Georgia
- Alternative digital secondary education for marginalized, out-of-school youth in low- and middle-income countries: Protocol for a scoping review of intervention models, outcomes, and implementation challenges
BibTeX
@article{mastaglio2026randomized,
title = {{A Randomized Hybrid Type I Effectiveness-Implementation Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2): study protocol}},
author = {Evelyn Mastaglio and Brian Egleston and Kimberley T. Lee and Dominique Fetzer and Sarah Brown and Susan M. Domchek and Linda Fleisher and Kuang Yi-Wen and Lynne Wagner and Scott Roberts and Cara Cacioppo and Janice Christiansen and Sarah Howe and Elisabeth M. Wood and Michelle Weinberg and Kelsey Karpink and Enida Selmani and Justin Feng and Samantha John and Kathryn Schweickert and Briana McLeod and Angela R. Bradbury},
journal = {BMC Cancer},
year = {2026},
month = jul,
doi = {10.1186/s12885-026-16620-z},
url = {https://doi.org/10.1186/s12885-026-16620-z},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - A Randomized Hybrid Type I Effectiveness-Implementation Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2): study protocol
AU - Evelyn Mastaglio
AU - Brian Egleston
AU - Kimberley T. Lee
AU - Dominique Fetzer
AU - Sarah Brown
AU - Susan M. Domchek
AU - Linda Fleisher
AU - Kuang Yi-Wen
AU - Lynne Wagner
AU - Scott Roberts
AU - Cara Cacioppo
AU - Janice Christiansen
AU - Sarah Howe
AU - Elisabeth M. Wood
AU - Michelle Weinberg
AU - Kelsey Karpink
AU - Enida Selmani
AU - Justin Feng
AU - Samantha John
AU - Kathryn Schweickert
AU - Briana McLeod
AU - Angela R. Bradbury
PY - 2026
DA - 2026/07/31
JO - BMC Cancer
DO - 10.1186/s12885-026-16620-z
UR - https://doi.org/10.1186/s12885-026-16620-z
AB - Background: Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. There are also targeted treatments for some genetic carriers with cancers such as breast and ovarian cancer. Yet, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified. The eREACH 2 study (A Randomized Hybrid Type I Effectiveness-Implementation Study of an eReach Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer) evaluates whether an interactive, patient-centered digital alternative for genetic education and disclosure of results is non-inferior compared to the traditional model of pre- and post-test counseling with a genetic counselor. Methods: This is a Hybrid Type 1 effectiveness implementation study in which participants are randomized using a 2 × 2 design to test a self-directed, patient-informed, digital intervention to deliver clinical genetic testing versus the traditional pre-test (visit 1) and post-test (visit 2: disclosure) counseling delivered by a genetic counselor. The 4 arms include (A) genetic counselor for visit 1 and visit 2, (B) genetic counselor for visit 1 and digital intervention for visit 2, (C) digital intervention for visit 1 and genetic counselor for visit 2, and (D) digital intervention for both visits. Participants are adults who meet National Comprehensive Cancer Network and/or American Society of Clinical Oncology guidelines for germline genetic testing and are recruited from both community and medical sites across the United States by way of clinician referral as well as patient self-referral. The primary outcomes are non-inferiority in uptake of genetic testing and change in genetic knowledge and general anxiety from baseline to post-disclosure. Discussion: With many barriers to accessing genetic services, innovative delivery models are needed to address these gaps and increase uptake of genetic services. The eREACH2 study evaluates the effectiveness of an interactive patient-centered digital intervention to deliver clinical genetic testing. 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 (e.g. Alzheimer’s disease). Trial registration: This protocol was registered at clinicaltrials.gov (NCT05427240) on 6/7/2022. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s12885-026-16620-z.
SN - 1471-2407
ER -