Population Genomic Screening Implementation Best PracticesFOCUSNCT07806643
Facilitating the Implementation of Population-wide Genomic Screening
An observational study of Population Genomic Screening Implementation Best Practices, run by Wake Forest University Health Sciences at 7 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Population Genomic Screening Implementation Best Practices
- What is being tested?
- FOCUS Toolkit Training
- How many people
- 8 participants
- Where
- 7 sitesUnited States
- Study dates
- Jan 2027to Oct 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: This study will include specific sites population genomic screening (PGS) rather than individual participants.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
7 sites in 1 country
United States7 sites
St. Luke's University Hospital
Bethlehem, Pennsylvania, 18015
Christopher Chapman, 866-785-8537, Christopher.Chapman@sluhn.org
University of North Carolina
Chapel Hill, North Carolina, 27599
Megan Roberts, 919-962-2211, megan.roberts@unc.edu
Moses Cone Hospital
Greensboro, North Carolina, 27401
Alison Sigmon, 919-962-2211, alison.sigmon@conehealth.com
Baylor College of Medicine
Houston, Texas, 77030
Kyler Godwin, 713-798-4951, Kyler.Godwin@bcm.edu
Memorial Hermann-Texas Medical Center
Houston, Texas, 77030
Farhaan Vahidy, 713-704-4000, Farhaan.Vahidy@memorialhermann.org
Atrium Health Wake Forest Baptist
Winston-Salem, North Carolina, 27157
Lori Orlando, 704-863-6000, Lori.Orlando@wfusm.edu
WellSpan York Hospital
York, Pennsylvania, 17403
Anwar Chahal, 717-851-2345, cchahal@wellspan.org
About this study
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.
Read the 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.
- Being tested
- FOCUS Toolkit Training
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
FOCUS Toolkit TrainingOther
The FOCUS toolkit is a multicomponent implementation guide on improving the implementation of population-wide genomic screening programs across diverse healthcare settings.
| Study group | Role | What they receive |
|---|---|---|
| FOCUS Toolkit | Not described Receives: Other: FOCUS Toolkit Training |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: 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
Measured: Month 16
Proportion of Eligible Individuals Tested
Effectiveness is measured as the proportion of eligible individuals tested compared to those consented
Measured: Month 4
Proportion of Eligible Individuals Tested
Effectiveness is measured as the proportion of eligible individuals tested compared to those consented
Measured: Month 10
Proportion of Eligible Individuals Tested
Effectiveness is measured as the proportion of eligible individuals tested compared to those consented
Measured: Month 16
Proportion of Positive Genomic Screening Results
Number of individuals with positive results after genomic screening
Measured: Month 4
Proportion of Positive Genomic Screening Results
Number of individuals with positive results after genomic screening
Measured: Month 10
Proportion of Positive Genomic Screening Results
Number of individuals with positive results after genomic screening
Measured: Month 16
Proportion of Negative Genomic Screening Results
Number of individuals with negative results after genomic screening
Measured: Month 4
Proportion of Negative Genomic Screening Results
Number of individuals with negative results after genomic screening
Measured: Month 10
Proportion of Negative Genomic Screening Results
Number of individuals with negative results after genomic screening
Measured: Month 16
Proportion of VUS Genomic Screening Results
Number of individuals with variant of uncertain significance (VUS) after genomic screening
Measured: Month 4
Proportion of VUS Genomic Screening Results
Number of individuals with variant of uncertain significance (VUS) after genomic screening
Measured: Month 10
Proportion of VUS Genomic Screening Results
Number of individuals with variant of uncertain significance (VUS) after genomic screening
Measured: 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
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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.
Measured: Month 19
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Sep 2026
- Study startJan 2027 (estimated)
- Primary completionOct 2028 (estimated)
- Study completionOct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Population Genomic Screening Implementation Best PracticesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Wake Forest University Health Sciences
- Sponsor type
- University, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Responsible party
- Sponsor
- Investigators
- Caitlin Allen, PhD, Principal investigator, Atrium Health Wake Forest Baptist
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07806643
- Sponsor's protocol ID
- IRB00143953
- Other IDs
- R01HG013851-03
- Acronym
- FOCUS
- Status last verified
- Aug 2026
- First submitted
- 2 Sep 2026
- Last updated
- 8 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Facilitating the Implementation of Population-wide Genomic Screening
- ClinicalTrials.gov ID
- NCT07806643
- Acronym / sponsor ID
- FOCUS / IRB00143953
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- Wake Forest University Health SciencesUniversity, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Study start
- Jan 2027 (estimated)
- Primary completion
- Oct 2028 (estimated)
- Study completion
- Oct 2028 (estimated)
- First posted
- 8 Sep 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| FOCUS Toolkit | – | Other: FOCUS Toolkit Training |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study will include specific sites population genomic screening (PGS) rather than individual participants.
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| FOCUS Toolkit TrainingThe FOCUS toolkit is a multicomponent implementation guide on improving the implementation of population-wide genomic screening programs across diverse healthcare settings. | Other | FOCUS Toolkit |
Primary outcome
Number of People Participating in PGS Program
Time frame: 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
Number of People Participating in PGS Program
Time frame: Month 10
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
Number of People Participating in PGS Program
Time frame: Month 16
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
Time frame: Month 4
Effectiveness is measured as the proportion of eligible individuals tested compared to those consented
Proportion of Eligible Individuals Tested
Time frame: Month 10
Effectiveness is measured as the proportion of eligible individuals tested compared to those consented
Proportion of Eligible Individuals Tested
Time frame: Month 16
Effectiveness is measured as the proportion of eligible individuals tested compared to those consented
Proportion of Positive Genomic Screening Results
Time frame: Month 4
Number of individuals with positive results after genomic screening
Proportion of Positive Genomic Screening Results
Time frame: Month 10
Number of individuals with positive results after genomic screening
Proportion of Positive Genomic Screening Results
Time frame: Month 16
Number of individuals with positive results after genomic screening
Proportion of Negative Genomic Screening Results
Time frame: Month 4
Number of individuals with negative results after genomic screening
Proportion of Negative Genomic Screening Results
Time frame: Month 10
Number of individuals with negative results after genomic screening
Proportion of Negative Genomic Screening Results
Time frame: Month 16
Number of individuals with negative results after genomic screening
Proportion of VUS Genomic Screening Results
Time frame: Month 4
Number of individuals with variant of uncertain significance (VUS) after genomic screening
Proportion of VUS Genomic Screening Results
Time frame: Month 10
Number of individuals with variant of uncertain significance (VUS) after genomic screening
Proportion of VUS Genomic Screening Results
Time frame: Month 16
Number of individuals with variant of uncertain significance (VUS) after genomic screening
Number of Sites Participating in PGS
Time frame: 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
Acceptability of Intervention Measure (AIM)
Time frame: 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)
Time frame: 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)
Time frame: 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
Time frame: Month 19
Maintenance will be assessed by the number of individuals with positive results that completed high-risk management
Program Sustainability Assessment
Time frame: 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Sep 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Caitlin Allen, PhD principal investigator
Atrium Health Wake Forest Baptist
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Population Genomic Screening Implementation Best Practices, run by Wake Forest University Health Sciences at 7 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 8 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Caitlin Allen, PhD (614-554-5298, Caitlin.Allen@wfusm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of People Participating in PGS Program (time frame: Month 4). The study lists 21 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Sep 2026.