Population Genomic Screening Implementation Best Practices
Conditions
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.
Interventions
OTHERFOCUS Toolkit Training
The FOCUS toolkit is a multicomponent implementation guide on improving the implementation of population-wide genomic screening programs across diverse healthcare settings.
Sponsors
Wake Forest University Health Sciences
National Human Genome Research Institute (NHGRI)
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Acceptability of Intervention Measure (AIM) | Month 19 | 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. |
| Intervention Appropriateness Measure (IAM) | Month 19 | 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. |
| Feasibility of Intervention Measure (FIM) | Month 19 | 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. |
| Number of Individuals that Completed High-Risk Management | Month 19 | Maintenance will be assessed by the number of individuals with positive results that completed high-risk management |
| Program Sustainability Assessment | Month 19 | 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. |
| Number of People Participating in PGS Program | Month 4 | 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 |
| Proportion of Eligible Individuals Tested | Month 4 | Effectiveness is measured as the proportion of eligible individuals tested compared to those consented |
| Proportion of Positive Genomic Screening Results | Month 4 | Number of individuals with positive results after genomic screening |
| Proportion of Negative Genomic Screening Results | Month 4 | Number of individuals with negative results after genomic screening |
| Proportion of VUS Genomic Screening Results | Month 4 | Number of individuals with variant of uncertain significance (VUS) after genomic screening |
| Number of Sites Participating in PGS | Month 19 | 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 |
Countries
United States
Contacts
CONTACTCaitlin Allen, PhD
PRINCIPAL_INVESTIGATORCaitlin Allen, PhD
Atrium Health Wake Forest Baptist
Outcome results
None listed