Facilitating the Implementation of Population-wide Genomic Screening

ClinicalTrials.gov ID

NCT07806643

Lead Sponsor

Wake Forest University Health SciencesOTHER

Overall Status

Not yet recruiting

Study Type

Observational

Enrollment

8Estimated

Last Update Posted

Sep 8, 2026Actual

Start Date

Jan 2027Estimated

Primary Completion Date

Oct 2028Estimated

Completion Date

Oct 2028Estimated

Official Title

Facilitating the Implementation of Population-wide Genomic Screening

Brief Summary

This is a multi-site hybrid implementation-effectiveness trial that uses a stepped-wedge cluster randomized design to evaluate the impact of the FOCUS toolkit, a multicomponent implementation guide, on improving the implementation of population-wide genomic screening (PGS) programs across diverse healthcare settings. The trial will assess program-level outcomes using the RE-AIM framework (Reach, Effectiveness, Adoption, Implementation, Maintenance) and explore mechanisms of change and implementation process progression. The study involves program-level and individual-level data collection and will not alter clinical care or treatment decisions of individuals made by participating sites.

Detailed Description

To help facilitate growth of population-wide genomic screening (PGS) programs and enhance recruitment and retention of representative populations into genomic initiatives, this study propose to identify best practices for PGS implementation and develop and test a freely available, online multicomponent implementation guide (FOCUS toolkit). This project will establish a gold standard approach for integrating PGS and offer the field generalizable methods and knowledge about PGS implementation. Specifically, using a stakeholder-engaged Implementation Mapping approach we will: 1) conduct a qualitative needs assessment among ten PGS programs (FOCUS design sites) at various implementation stages (emerging, implementing, sustaining) guided by the Consolidated Framework for Implementation Research, 2) develop and produce the FOCUS toolkit consisting of implementation strategies, materials, and protocols, and 3) evaluate the impact of the FOCUS toolkit on Reach, Effectiveness, Implementation, Adoption, Maintenance outcomes for PGS in 12 PGS sites (FOCUS test sites) using a stepped wedge cluster randomized trial design. These findings will: 1) provide a standardized approach and evaluation framework for programs seeking to strategically implement and expand population-based approaches for identifying individuals and families at high risk of serious, yet preventable disease, 2) provide generalizable methods and knowledge about PGS, and 3) support efforts to bring the promise of precision health to all.

• Population Genomic Screening Implementation Best Practices

• FOCUS Toolkit Training

Ages Eligible for Study

Child (0-17)Adult (18-64)Older Adult (65+)

Sexes Eligible for Study

All

Accepts Healthy Volunteers

Yes

Eligibility Criteria

Inclusion Criteria:

• Operate an active or population genomic screening (PGS) program.
• Agree to utilize the FOCUS Toolkit throughout the trial and engage staff in its use and fidelity tracking.
• Ability to understand and willingness to sign a data use agreement and comply with study procedures for the entire length of the study.
• Ability to provide program-level data (Reach, Effectiveness, Adoption, Implementation, Maintenance) quarterly.
• Confirmation of implementing or sustaining stage, as determined by the investigator.
• Capacity to participate in stakeholder surveys and interviews at study conclusion.
• Ability to read and understand the English language.

Exclusion Criteria:

• They lack infrastructure to collect and share required data.
• They cannot commit to toolkit use or quarterly reporting.
• They are unable to comply with study timelines

Observational Model

Other

Time Perspective

Prospective

Lead Sponsor

Wake Forest University Health SciencesOTHER

Collaborators

National Human Genome Research Institute (NHGRI)NIH

alison.sigmon@conehealth.com919-962-2211

Lori.Orlando@wfusm.edu704-863-6000

Christopher.Chapman@sluhn.org866-785-8537

cchahal@wellspan.org717-851-2345

Kyler.Godwin@bcm.edu713-798-4951

Farhaan.Vahidy@memorialhermann.org713-704-4000

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