Genetic Counseling Patient Preference Intervention Versus Conventional Genetic Counseling for Women at Elevated Risk for Breast Cancer

A Randomized Controlled Trial Comparing a Genetic Counseling Patient Preference Intervention vs. Conventional Genetic Counseling for Women at Elevated Risk for Breast Cancer

This stage I clinical trial compares a genetic counseling patient preference (GCPP) intervention via EHR MyChart patient portal to conventional genetic counseling for women at elevated risk for breast cancer. Women at elevated breast cancer risk may be offered genetic counseling and genetic testing to further define whether they are at high risk (e.g. hereditary risk; BRCA mutation positive); moderate risk (e.g. risk based largely on family history and/or polygenic risk score) or average risk (e.g. general population). Genetic counseling may improve basic genetic knowledge, produce more accurate risk perceptions and tailor recommendations for greater perceived personal control regarding breast cancer risk. A single approach to genetic counseling may not fit the needs for all patients, and genetic counseling models that increase access to genetic testing and are more patient-centered may better serve patients. This trial may help researchers determine if a GCPP intervention can take the place of conventional genetic counseling, while being non-inferior in terms of adherence to screening recommendations, breast cancer genetic knowledge, accurate perception of risk, breast cancer-specific worry, and satisfaction with counseling compared to conventional genetic counseling. Study results will provide the efficacy for using a novel cancer genetic counseling approach via EHR MyChart patient portal that will be readily adaptable to other health care systems in the future, inform best practices, and reduce workforce burden.

Study Overview

• Status: Active, not recruiting
• Conditions: Breast Carcinoma
• Intervention / Treatment: Other: Survey Administration; Other: Genetic Counseling; Other: Educational Intervention

Detailed Description

PRIMARY OBJECTIVE:

I. Determine the efficacy of genetic counseling patient preference (GCPP) compared to conventional genetic counseling for adherence to National Comprehensive Cancer Network (NCCN) guidelines for having: 1) a clinical encounter every 6-12 months; and 2) an annual mammogram (and breast magnetic resonance imaging [MRI] with contrast if recommended).

II. Determine the efficacy of the GCPP compared to conventional genetic counseling for adherence to other NCCN recommended cancer screening (e.g. colorectal cancer screening).

III. Determine the efficacy of the GCPP compared to conventional genetic counseling on breast cancer genetic knowledge, the accurate perception of breast cancer risk, breast cancer-specific worry, post-test/counseling distress, and satisfaction with counseling.

EXPLORATORY OBJECTIVE:

I. Explore the genetic counseling preferences among the GCPP group.

OUTLINE: Patients are randomized to 1 of 2 arms.

ARM I: Patients receive GCPP intervention which uses REDCap and the MyChart patient portal to: 1) deliver a series of educational videos on pre-genetic test information; 2) provide multigene and polygenic risk score (PRS) test results; 3) obtain information about patients' questions/concerns about test results to use in post-genetic test counseling; and 4) determine patient preference (e.g. telehealth) for receipt of post-genetic test counseling.

ARM II: Patients receive conventional genetic counseling with utilization of multigene and polygenic risk score (PRS) test results.

• Study Type: Interventional
• Enrollment (Actual): 874
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Ohio
    • Columbus, Ohio, United States, 43210
      • Ohio State University Comprehensive Cancer Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 30 years to 64 years (Adult)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

• Being female.
• Ages 30-64.
• Being an Ohio State University (OSU) patient who uses MyChart.
• Undergoing routine screening mammography.
• Normal BI-RADS1.
• At elevated breast cancer risk by the Cancer Risk Assessment (CRA) tool.
• Able to read and speak English.
• Provide consent.

Exclusion Criteria:

• Previous genetic counseling.
• Previous genetic testing for cancer risk or known mutation in a breast cancer gene: ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, TP53.
• Previous diagnosis of breast or ovarian cancer or personal history of lobular carcinoma in situ (LCIS) or breast hyperplasia (with or without atypia).
• Being a member of a focus group that assisted with the development of the intervention.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Prevention
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Arm I (GCPP intervention); Patients receive GCPP intervention consisting of a series of educational videos on pre-genetic test information.	Other: Survey Administration; Ancillary studies; Other: Educational Intervention; Receive GCPP intervention videos; Other Names: Education for Intervention; Intervention by Education; Intervention through Education; Intervention, Educational
Active Comparator: Arm II (conventional genetic counseling); Patients receive conventional genetic counseling.	Other: Survey Administration; Ancillary studies; Other: Genetic Counseling; Receive genetic counseling

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Adherence to National Comprehensive Cancer Network (NCCN) guidelines of having a clinical encounter every 6-12 months	Non-inferiority will be assessed by constructing a one-sided 95% confidence interval for the effect of genetic counseling patient preference (GCCP) versus conventional counseling and comparing the bound to a non-inferiority margin. Will use mixed effects logistic regression with adherence as the outcome, random intercept effects for genetic counselors, and fixed effects for study arm, breast cancer knowledge, breast cancer worry, post-test/counseling distress, and perception of breast cancer risk.	Up to 14 months
Adherence to NCCN guidelines of having an annual mammogram (and breast magnetic resonance imaging [MRI] with contrast if recommended)	Non-inferiority will be assessed by constructing a one-sided 95% confidence interval for the effect of GCCP versus conventional counseling and comparing the bound to a non-inferiority margin. Will use mixed effects logistic regression with adherence as the outcome, random intercept effects for genetic counselors, and fixed effects for study arm, breast cancer knowledge, breast cancer worry, post-test/counseling distress, and perception of breast cancer risk.	Up to 14 months
Risk perception	Determine the efficacy of the GCPP compared to conventional genetic counseling on breast cancer genetic knowledge, the accurate perception of breast cancer risk, breast cancer-specific worry, post-test/counseling distress, and satisfaction with counseling. Non-inferiority will be assessed by constructing a one-sided 95% confidence interval for the effect of GCCP versus conventional counseling and comparing the bound to a non-inferiority margin.	Up to 14 months
Breast cancer-specific worry	Determine the efficacy of the GCPP compared to conventional genetic counseling on breast cancer genetic knowledge, the accurate perception of breast cancer risk, breast cancer-specific worry, post-test/counseling distress, and satisfaction with counseling. Non-inferiority will be assessed by constructing a one-sided 95% confidence interval for the effect of GCCP versus conventional counseling and comparing the bound to a non-inferiority margin.	Up to 14 months
Post-test/counseling distress	Determine the efficacy of the GCPP compared to conventional genetic counseling on breast cancer genetic knowledge, the accurate perception of breast cancer risk, breast cancer-specific worry, post-test/counseling distress, and satisfaction with counseling. Non-inferiority will be assessed by constructing a one-sided 95% confidence interval for the effect of GCCP versus conventional counseling and comparing the bound to a non-inferiority margin.	Up to 14 months
Satisfaction with counseling	Determine the efficacy of the GCPP compared to conventional genetic counseling on breast cancer genetic knowledge, the accurate perception of breast cancer risk, breast cancer-specific worry, post-test/counseling distress, and satisfaction with counseling. Non-inferiority will be assessed by constructing a one-sided 95% confidence interval for the effect of GCCP versus conventional counseling and comparing the bound to a non-inferiority margin.	Up to 14 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Adherence to other National Comprehensive Cancer Network (NCCN) recommended cancer screening (e.g. colorectal cancer screening)	Non-inferiority will be assessed by constructing a one-sided 95% confidence interval for the effect of GCCP versus conventional counseling and comparing the bound to a non-inferiority margin.	Up to 14 months

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic counseling preferences	Will estimate the proportion of subjects who choose the remote (versus in-person) mode of the GCCP stratified by detection of high-risk variants, and construct 95% two-sided confidence intervals.	Up to 14 months

Collaborators and Investigators

• Sponsor: Ohio State University Comprehensive Cancer Center
• Collaborators: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Kevin Sweet, MS, LGC, Ohio State University Comprehensive Cancer Center

Publications and helpful links

General Publications

• Sweet K, Reiter PL, Schnell PM, Senter L, Shane-Carson KP, Aeilts A, Cooper J, Spears C, Brown J, Toland AE, Agnese DM, Katz ML. Genetic counseling and testing for females at elevated risk for breast cancer: Protocol for the randomized controlled trial of the Know Your Risk intervention. Contemp Clin Trials. 2023 Oct;133:107323. doi: 10.1016/j.cct.2023.107323. Epub 2023 Sep 1.

Helpful Links

• The Jamesline

Study record dates

Study Major Dates

• Study Start (Actual): June 13, 2022
• Primary Completion (Estimated): March 30, 2026
• Study Completion (Estimated): March 30, 2026

Study Registration Dates

• First Submitted: April 5, 2022
• First Submitted That Met QC Criteria: April 5, 2022
• First Posted (Actual): April 13, 2022

Study Record Updates

• Last Update Posted (Actual): December 11, 2025
• Last Update Submitted That Met QC Criteria: December 5, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Skin Diseases; Breast Diseases; Skin and Connective Tissue Diseases; Breast Neoplasms; Investigative Techniques; Health Services; Health Care Facilities Workforce and Services; Child Health Services; Community Health Services; Preventive Health Services; Socioeconomic Factors; Population Characteristics; Genetic Services; Methods; Early Intervention, Educational; Educational Status; Genetic Counseling
• Other Study ID Numbers: OSU-22013; R01CA248739 (U.S. NIH Grant/Contract); NCI-2022-01136 (Registry Identifier: CTRP (Clinical Trial Reporting Program))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No