Trial Outcomes & Findings for Broadening the Reach, Impact, and Delivery of Genetic Services (NCT NCT03985852)

NCT ID: NCT03985852

Last Updated: 2025-09-22

Results Overview

Percentage of patients who decide to receive genetic testing

• Recruitment status: COMPLETED
• Study phase: NA
• Target enrollment: 3073 participants
• Primary outcome timeframe: 1 month following pre-test genetic counseling
• Results posted on: 2025-09-22

Participant Flow

Participant milestones

Measure	Patient Directed Standard of Care Patients receive pre-test genetic counseling and, if relevant, post-test counseling for a negative result from an automated genetics education assistant. Patient Directed Standard of Care: The pre-test genetic counseling visit will be conducted through access to an automated genetics education assistant accessed through the patient portal. The automated approach will address all the components of the pre-test counseling and contains content designed by the genetic counselors at the University of Utah and NYU. Patients will have the option to contact genetic counselors through the patient portal, by phone, or in person but this will not be required. All results will be reviewed by a genetic counselor. Negative results will be returned by the automated genetics education assistant. Genetic counselors will return results for pathogenic variants and variants of uncertain significance via phone.	Enhanced Standard of Care Patients receive standard counseling from a genetic counselor.
Overall Study STARTED	1554	1519
Overall Study COMPLETED	400	361
Overall Study NOT COMPLETED	1154	1158

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Broadening the Reach, Impact, and Delivery of Genetic Services

Baseline characteristics by cohort

Measure	Patient Directed Standard of Care n=1554 Participants Patients receive pre-test genetic counseling and, if relevant, post-test counseling for a negative result from an automated genetics education assistant. Patient Directed Standard of Care: The pre-test genetic counseling visit will be conducted through access to an automated genetics education assistant accessed through the patient portal. The automated approach will address all the components of the pre-test counseling and contains content designed by the genetic counselors at the University of Utah and NYU. Patients will have the option to contact genetic counselors through the patient portal, by phone, or in person but this will not be required. All results will be reviewed by a genetic counselor. Negative results will be returned by the automated genetics education assistant. Genetic counselors will return results for pathogenic variants and variants of uncertain significance via phone.	Enhanced Standard of Care n=1519 Participants Patients receive standard counseling from a genetic counselor.	Total n=3073 Participants Total of all reporting groups
Age, Continuous	43.5 years STANDARD_DEVIATION 9.9 • n=5 Participants	44.1 years STANDARD_DEVIATION 9.9 • n=7 Participants	43.8 years STANDARD_DEVIATION 9.9 • n=5 Participants
Sex/Gender, Customized Female	1149 Participants n=5 Participants	1084 Participants n=7 Participants	2233 Participants n=5 Participants
Sex/Gender, Customized Male	402 Participants n=5 Participants	428 Participants n=7 Participants	830 Participants n=5 Participants
Sex/Gender, Customized Missing	3 Participants n=5 Participants	7 Participants n=7 Participants	10 Participants n=5 Participants
Race/Ethnicity, Customized Black	103 Participants n=5 Participants	101 Participants n=7 Participants	204 Participants n=5 Participants
Race/Ethnicity, Customized Latinx	165 Participants n=5 Participants	152 Participants n=7 Participants	317 Participants n=5 Participants
Race/Ethnicity, Customized White	1055 Participants n=5 Participants	1039 Participants n=7 Participants	2094 Participants n=5 Participants
Race/Ethnicity, Customized Other	85 Participants n=5 Participants	92 Participants n=7 Participants	177 Participants n=5 Participants
Race/Ethnicity, Customized Missing	146 Participants n=5 Participants	135 Participants n=7 Participants	281 Participants n=5 Participants

PRIMARY outcome

Timeframe: 1 month following pre-test genetic counseling

Percentage of patients who decide to receive genetic testing

Outcome measures

Measure	Patient Directed Standard of Care n=1554 Participants Patients receive pre-test genetic counseling and, if relevant, post-test counseling for a negative result from an automated genetics education assistant. Patient Directed Standard of Care: The pre-test genetic counseling visit will be conducted through access to an automated genetics education assistant accessed through the patient portal. The automated approach will address all the components of the pre-test counseling and contains content designed by the genetic counselors at the University of Utah and NYU. Patients will have the option to contact genetic counselors through the patient portal, by phone, or in person but this will not be required. All results will be reviewed by a genetic counselor. Negative results will be returned by the automated genetics education assistant. Genetic counselors will return results for pathogenic variants and variants of uncertain significance via phone.	Enhanced Standard of Care n=1519 Participants Patients receive standard counseling from a genetic counselor.
Completion of Genetic Testing From Electronic Health Record	191 Participants	206 Participants

SECONDARY outcome

Timeframe: 1 month after study invitation

Percentage of patients who decide to receive pre-test genetic counseling

Outcome measures

Measure	Patient Directed Standard of Care n=1554 Participants Patients receive pre-test genetic counseling and, if relevant, post-test counseling for a negative result from an automated genetics education assistant. Patient Directed Standard of Care: The pre-test genetic counseling visit will be conducted through access to an automated genetics education assistant accessed through the patient portal. The automated approach will address all the components of the pre-test counseling and contains content designed by the genetic counselors at the University of Utah and NYU. Patients will have the option to contact genetic counselors through the patient portal, by phone, or in person but this will not be required. All results will be reviewed by a genetic counselor. Negative results will be returned by the automated genetics education assistant. Genetic counselors will return results for pathogenic variants and variants of uncertain significance via phone.	Enhanced Standard of Care n=1519 Participants Patients receive standard counseling from a genetic counselor.
Completion of Pre-test Genetic Counseling From Electronic Health Record	400 Participants	361 Participants

SECONDARY outcome

Timeframe: 8 weeks and 13 months from pre-test counseling

Population: Population is participants who completed pre-test genetic services and follow-up questionnaires.

Adherence to colonoscopy: questionnaire data

Outcome measures

Measure	Patient Directed Standard of Care n=115 Participants Patients receive pre-test genetic counseling and, if relevant, post-test counseling for a negative result from an automated genetics education assistant. Patient Directed Standard of Care: The pre-test genetic counseling visit will be conducted through access to an automated genetics education assistant accessed through the patient portal. The automated approach will address all the components of the pre-test counseling and contains content designed by the genetic counselors at the University of Utah and NYU. Patients will have the option to contact genetic counselors through the patient portal, by phone, or in person but this will not be required. All results will be reviewed by a genetic counselor. Negative results will be returned by the automated genetics education assistant. Genetic counselors will return results for pathogenic variants and variants of uncertain significance via phone.	Enhanced Standard of Care n=100 Participants Patients receive standard counseling from a genetic counselor.
Adherence to Colonoscopy: Questionnaire	17 Participants	24 Participants

Adverse Events

Patient Directed Standard of Care

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Enhanced Standard of Care

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Kimberly Kaphingst

University of Utah

Phone: 801-213-5724

Email: kim.kaphingst@hci.utah.edu

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place