An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial
BackgroundGermline BRCA1 and BRCA2 testing is a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With Food and Drug Administration approval for poly (adenosine diphosphate ribose) polymerase (PARP) inhibit...
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JMIR Publications
2025-08-01
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| Series: | JMIR Research Protocols |
| Online Access: | https://www.researchprotocols.org/2025/1/e72515 |
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| author | Kimberley T Lee Briana McLeod Brian Egleston Sarah Brown Sarah Howe Dominique Fetzer Lauren Gutstein Cara Cacioppo Dana Clark Susan M Domchek Jessica Ebrahimzadeh Dana Falcone Demetrios Ofidis Hannah Griffin Rajia Mim Santina Hernandez Linda Fleisher Kelsey Karpink Enida Selmani Aysha Tahsin Lynne Wagner Michelle Weinberg Kuang Yi-Wen Elisabeth Wood Angela R Bradbury |
| author_facet | Kimberley T Lee Briana McLeod Brian Egleston Sarah Brown Sarah Howe Dominique Fetzer Lauren Gutstein Cara Cacioppo Dana Clark Susan M Domchek Jessica Ebrahimzadeh Dana Falcone Demetrios Ofidis Hannah Griffin Rajia Mim Santina Hernandez Linda Fleisher Kelsey Karpink Enida Selmani Aysha Tahsin Lynne Wagner Michelle Weinberg Kuang Yi-Wen Elisabeth Wood Angela R Bradbury |
| author_sort | Kimberley T Lee |
| collection | DOAJ |
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BackgroundGermline BRCA1 and BRCA2 testing is a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With Food and Drug Administration approval for poly (adenosine diphosphate ribose) polymerase (PARP) inhibitors in patients with metastatic breast, ovarian, pancreatic, and prostate cancer, there is an additional therapeutic rationale for testing all patients with these cancers for germline BRCA1 and BRCA2 mutations. However, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified.
ObjectiveThe eREACH (A Randomized Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Metastatic Breast, Ovarian, Prostate, and Pancreatic Cancer Patients) study evaluates the effectiveness of a theoretically and stakeholder-informed eHealth (eg, digital) delivery alternative to traditional genetic counseling for patients with metastatic breast or prostate cancer or advanced or metastatic ovarian or pancreatic cancer referred for genetic testing to determine whether they are candidates for a PARP inhibitor.
MethodsThe eREACH study is a randomized noninferiority study using a 2 × 2 design to test a self-directed digital intervention to deliver clinical genetic testing for patients with metastatic cancers. The traditional standard-of-care pretest (visit 1) and posttest (visit 2—disclosure) counseling delivered by a genetic counselor is replaced with our patient-informed digital intervention. The four arms were as follows: arm A, genetic counselor for visits 1 and 2; arm B, genetic counselor for visit 1 and digital intervention for visit 2; arm C, digital intervention for visit 1 and genetic counselor for visit 2; and arm D, digital intervention for both visits. Participants were adults with advanced or metastatic breast, ovarian, pancreatic, and prostate cancer. The primary outcomes of this study were change in genetic knowledge and anxiety from baseline to postdisclosure assessment. We will test whether the digital intervention is noninferior to standard-of-care counseling with a genetic counselor using a modified noninferiority ANOVA of the posttest disclosure minus baseline change scores. In secondary analyses, we will test pairwise differences among the 4 groups.
ResultsAs of January 2025, we have completed enrollment of 229 participants. Data analysis is ongoing, and we expect the results to be published in 2025.
ConclusionsIncreasing indications for BRCA1 and BRCA2 testing create a pressing need to evaluate alternative delivery models to increase access and uptake of these tests 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 that this work will inform evidence-based guidelines and the standard of care for delivery of genetic testing, and it is designed to be broadly applicable and easily adaptable for other populations and settings even beyond oncology.
Trial RegistrationClinicalTrials.gov NCT04353973; https://clinicaltrials.gov/study/NCT04353973
International Registered Report Identifier (IRRID)DERR1-10.2196/72515 |
| format | Article |
| id | doaj-art-39c057eaab794bea88acc51ec0056c6a |
| institution | Kabale University |
| issn | 1929-0748 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | JMIR Publications |
| record_format | Article |
| series | JMIR Research Protocols |
| spelling | doaj-art-39c057eaab794bea88acc51ec0056c6a2025-08-25T14:16:00ZengJMIR PublicationsJMIR Research Protocols1929-07482025-08-0114e7251510.2196/72515An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized TrialKimberley T Leehttps://orcid.org/0000-0002-3346-0885Briana McLeodhttps://orcid.org/0000-0001-9103-9397Brian Eglestonhttps://orcid.org/0000-0002-1633-799XSarah Brownhttps://orcid.org/0009-0006-2523-119XSarah Howehttps://orcid.org/0009-0009-8366-3427Dominique Fetzerhttps://orcid.org/0000-0001-6374-0151Lauren Gutsteinhttps://orcid.org/0009-0008-3266-9979Cara Cacioppohttps://orcid.org/0000-0003-4761-7027Dana Clarkhttps://orcid.org/0000-0001-8052-0118Susan M Domchekhttps://orcid.org/0000-0002-5914-7272Jessica Ebrahimzadehhttps://orcid.org/0000-0002-1505-9625Dana Falconehttps://orcid.org/0009-0001-0112-2603Demetrios Ofidishttps://orcid.org/0009-0002-4506-123XHannah Griffinhttps://orcid.org/0009-0006-1669-5195Rajia Mimhttps://orcid.org/0009-0004-6398-5633Santina Hernandezhttps://orcid.org/0009-0001-7428-593XLinda Fleisherhttps://orcid.org/0000-0002-6911-0756Kelsey Karpinkhttps://orcid.org/0009-0005-2636-0973Enida Selmanihttps://orcid.org/0009-0002-6784-7874Aysha Tahsinhttps://orcid.org/0009-0009-1491-7913Lynne Wagnerhttps://orcid.org/0000-0001-9685-4796Michelle Weinberghttps://orcid.org/0009-0001-2075-6302Kuang Yi-Wenhttps://orcid.org/0000-0002-4133-1178Elisabeth Woodhttps://orcid.org/0000-0002-4734-2214Angela R Bradburyhttps://orcid.org/0000-0001-9607-6402 BackgroundGermline BRCA1 and BRCA2 testing is a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With Food and Drug Administration approval for poly (adenosine diphosphate ribose) polymerase (PARP) inhibitors in patients with metastatic breast, ovarian, pancreatic, and prostate cancer, there is an additional therapeutic rationale for testing all patients with these cancers for germline BRCA1 and BRCA2 mutations. However, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified. ObjectiveThe eREACH (A Randomized Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Metastatic Breast, Ovarian, Prostate, and Pancreatic Cancer Patients) study evaluates the effectiveness of a theoretically and stakeholder-informed eHealth (eg, digital) delivery alternative to traditional genetic counseling for patients with metastatic breast or prostate cancer or advanced or metastatic ovarian or pancreatic cancer referred for genetic testing to determine whether they are candidates for a PARP inhibitor. MethodsThe eREACH study is a randomized noninferiority study using a 2 × 2 design to test a self-directed digital intervention to deliver clinical genetic testing for patients with metastatic cancers. The traditional standard-of-care pretest (visit 1) and posttest (visit 2—disclosure) counseling delivered by a genetic counselor is replaced with our patient-informed digital intervention. The four arms were as follows: arm A, genetic counselor for visits 1 and 2; arm B, genetic counselor for visit 1 and digital intervention for visit 2; arm C, digital intervention for visit 1 and genetic counselor for visit 2; and arm D, digital intervention for both visits. Participants were adults with advanced or metastatic breast, ovarian, pancreatic, and prostate cancer. The primary outcomes of this study were change in genetic knowledge and anxiety from baseline to postdisclosure assessment. We will test whether the digital intervention is noninferior to standard-of-care counseling with a genetic counselor using a modified noninferiority ANOVA of the posttest disclosure minus baseline change scores. In secondary analyses, we will test pairwise differences among the 4 groups. ResultsAs of January 2025, we have completed enrollment of 229 participants. Data analysis is ongoing, and we expect the results to be published in 2025. ConclusionsIncreasing indications for BRCA1 and BRCA2 testing create a pressing need to evaluate alternative delivery models to increase access and uptake of these tests 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 that this work will inform evidence-based guidelines and the standard of care for delivery of genetic testing, and it is designed to be broadly applicable and easily adaptable for other populations and settings even beyond oncology. Trial RegistrationClinicalTrials.gov NCT04353973; https://clinicaltrials.gov/study/NCT04353973 International Registered Report Identifier (IRRID)DERR1-10.2196/72515https://www.researchprotocols.org/2025/1/e72515 |
| spellingShingle | Kimberley T Lee Briana McLeod Brian Egleston Sarah Brown Sarah Howe Dominique Fetzer Lauren Gutstein Cara Cacioppo Dana Clark Susan M Domchek Jessica Ebrahimzadeh Dana Falcone Demetrios Ofidis Hannah Griffin Rajia Mim Santina Hernandez Linda Fleisher Kelsey Karpink Enida Selmani Aysha Tahsin Lynne Wagner Michelle Weinberg Kuang Yi-Wen Elisabeth Wood Angela R Bradbury An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial JMIR Research Protocols |
| title | An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial |
| title_full | An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial |
| title_fullStr | An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial |
| title_full_unstemmed | An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial |
| title_short | An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial |
| title_sort | ehealth delivery alternative for cancer genetic testing for hereditary predisposition in patients with metastatic cancers protocol for a randomized trial |
| url | https://www.researchprotocols.org/2025/1/e72515 |
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