Facilitating the Implementation of Population-wide Genomic Screening (FOCUS)

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Population Genomic Screening Implementation Best Practices
• Intervention / Treatment: Other: FOCUS Toolkit Training

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.

• Study Type: Observational
• Enrollment (Estimated): 8

Contacts and Locations

• Study Contact: Name: Caitlin Allen, PhD; Phone Number: 614-554-5298; Email: Caitlin.Allen@wfusm.edu

Study Locations

• United States
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • University of North Carolina
      • Contact: Megan Roberts; Phone Number: 919-962-2211; Email: megan.roberts@unc.edu
    • Greensboro, North Carolina, United States, 27401
      • Moses Cone Hospital
      • Contact: Alison Sigmon; Phone Number: 919-962-2211; Email: alison.sigmon@conehealth.com
    • Winston-Salem, North Carolina, United States, 27157
      • Atrium Health Wake Forest Baptist
      • Contact: Lori Orlando; Phone Number: 704-863-6000; Email: Lori.Orlando@wfusm.edu
  • Pennsylvania
    • Bethlehem, Pennsylvania, United States, 18015
      • St. Luke's University Hospital
      • Contact: Christopher Chapman; Phone Number: 866-785-8537; Email: Christopher.Chapman@sluhn.org
    • York, Pennsylvania, United States, 17403
      • WellSpan York Hospital
      • Contact: Anwar Chahal; Phone Number: 717-851-2345; Email: cchahal@wellspan.org
  • Texas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine
      • Contact: Kyler Godwin; Phone Number: 713-798-4951; Email: Kyler.Godwin@bcm.edu
    • Houston, Texas, United States, 77030
      • Memorial Hermann-Texas Medical Center
      • Contact: Farhaan Vahidy; Phone Number: 713-704-4000; Email: Farhaan.Vahidy@memorialhermann.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

This study will include specific sites population genomic screening (PGS) rather than individual participants.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
FOCUS Toolkit	Other: FOCUS Toolkit Training; The FOCUS toolkit is a multicomponent implementation guide on improving the implementation of population-wide genomic screening programs across diverse healthcare settings.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of People Participating in PGS Program	Reach is measured as the total number of people who have consented to participate in the population-based genomic screening (PGS) program. Data will be collected from PGS program data collection form	Month 4
Number of People Participating in PGS Program	Reach is measured as the total number of people who have consented to participate in the population-based genomic screening (PGS) program. Data will be collected from PGS program data collection form	Month 10
Number of People Participating in PGS Program	Reach is measured as the total number of people who have consented to participate in the population-based genomic screening (PGS) program. Data will be collected from PGS program data collection form	Month 16
Proportion of Eligible Individuals Tested	Effectiveness is measured as the proportion of eligible individuals tested compared to those consented	Month 4
Proportion of Eligible Individuals Tested	Effectiveness is measured as the proportion of eligible individuals tested compared to those consented	Month 10
Proportion of Eligible Individuals Tested	Effectiveness is measured as the proportion of eligible individuals tested compared to those consented	Month 16
Proportion of Positive Genomic Screening Results	Number of individuals with positive results after genomic screening	Month 4
Proportion of Positive Genomic Screening Results	Number of individuals with positive results after genomic screening	Month 10
Proportion of Positive Genomic Screening Results	Number of individuals with positive results after genomic screening	Month 16
Proportion of Negative Genomic Screening Results	Number of individuals with negative results after genomic screening	Month 4
Proportion of Negative Genomic Screening Results	Number of individuals with negative results after genomic screening	Month 10
Proportion of Negative Genomic Screening Results	Number of individuals with negative results after genomic screening	Month 16
Proportion of VUS Genomic Screening Results	Number of individuals with variant of uncertain significance (VUS) after genomic screening	Month 4
Proportion of VUS Genomic Screening Results	Number of individuals with variant of uncertain significance (VUS) after genomic screening	Month 10
Proportion of VUS Genomic Screening Results	Number of individuals with variant of uncertain significance (VUS) after genomic screening	Month 16
Number of Sites Participating in PGS	Adoption is defined as the uptake of population-based genomic screening (PGS) at each site, measured by the number of sites participating in PGS relative to those eligible. Measured through stakeholder surveys	Month 19
Acceptability of Intervention Measure (AIM)	Implementation will be assessed using the Acceptability of Intervention Measure survey includes 4 items with the total score range 4-20. Higher scores indicate higher level of acceptability.	Month 19
Intervention Appropriateness Measure (IAM)	Implementation will be assessed using the Intervention Appropriateness Measure survey includes 4 items with a total score range 4-20. Higher scores indicate higher level of appropriateness.	Month 19
Feasibility of Intervention Measure (FIM)	Implementation will be assessed using the Feasibility of Intervention Measure survey includes 4 items with a total score range 4-20. Higher scores indicate higher level of feasibility.	Month 19
Number of Individuals that Completed High-Risk Management	Maintenance will be assessed by the number of individuals with positive results that completed high-risk management	Month 19
Program Sustainability Assessment	Maintenance will be assessed by using the Program Sustainability Assessment survey has 40 items with a total score range of 40-280. Higher scores indicate greater sustainability capacity.	Month 19

Collaborators and Investigators

• Sponsor: Wake Forest University Health Sciences
• Collaborators: National Human Genome Research Institute (NHGRI)
• Investigators: Principal Investigator: Caitlin Allen, PhD, Atrium Health Wake Forest Baptist

Study record dates

Study Major Dates

• Study Start (Estimated): January 1, 2027
• Primary Completion (Estimated): October 1, 2028
• Study Completion (Estimated): October 1, 2028

Study Registration Dates

• First Submitted: September 2, 2026
• First Submitted That Met QC Criteria: September 2, 2026
• First Posted (Actual): September 8, 2026

Study Record Updates

• Last Update Posted (Actual): September 8, 2026
• Last Update Submitted That Met QC Criteria: September 2, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Other Study ID Numbers: IRB00143953; R01HG013851-03 (U.S. NIH Grant/Contract)

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