FOCUS: Facilitating the Implementation of Population-wide Genomic Screening
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Facilitating the implementation of population-wide genomic screening across diverse populations and settings (FOCUS) Toolkit User Guide

Introduction to the FOCUS Toolkit

What is the FOCUS Toolkit?

The FOCUS Toolkit is a collection of evidence-based, interactive resources designed to support health systems in the planning, implementation, and sustainment of Population-based genomic screening (PGS) programs. Whether your institution is just beginning to explore PGS programs or you have been implementing a PGS program for years, the FOCUS Toolkit offers targeted tools designed to help you effectively and equitably plan and manage the implementation of a PGS program.

The toolkit was developed through a rigorous research process involving:

  • Qualitative interviews with 34 participants from 10 health care institutions at different phases of PGS implementation: pre-adoption (n=4), implementing (n=4), and sustaining (n=2)
    • Interviewees included institutional leaders, principal investigators, genetic counselors, study coordinators/managers, primary care clinicians, IT personnel, marketing personnel, institutional lab personnel, and other key personnel.
  • Group discussion sessions with 9 of the 10 institutions who participated in qualitative interviews
    • Sessions were used to reconcile any confusion or discrepant information from the qualitative interviews, gain clarity across individual implementation team member interviews, and verify the accuracy of the qualitative analysis.
  • Subject Matter Expertise Input on the toolkit from an advisory panel comprised of implementation science experts, genetic counselors, institutional leaders, and others with relevant expertise to inform strategies
  • User testing with implementation team members from existing PGS programs

The toolkit is grounded in key implementation science frameworks, including:

What is PGS?

Population-based genomic screening (PGS) allows for early identification of genetic risk and initiation of risk management for a variety of inherited cancer and cardiovascular disease conditions. While 1-2% of the population has a pathogenic variant in a gene associated with hereditary breast and ovarian cancer syndrome, Lynch syndrome, or familial hypercholesterolemia, these conditions are currently underdiagnosed, leaving many individuals unaware of their risk.1-7 The number of organizations implementing PGS in the United States (US) has tripled since the National Academies of Science, Engineering, and Medicine’s Genomics Public Health Action Collaborative endorsed PGS in 2018.3,6,8-10 However, no clear guidelines or standardized implementation and evaluation strategies exist to support the rapid expansion of PGS programs in the US.11,12 While PGS holds tremendous potential to improve population health through early detection and tailored prevention, its successful integration into routine clinical workflows requires careful attention to the contextual and process-related factors that shape implementation.8,13

Toolkit Development Background

The FOCUS Toolkit was developed as part of the Facilitating the Implementation of Population-Wide Genomic Screening across Diverse Populations and Settings (FOCUS) Study, a research study funded by the NIH National Human Genome Research Institute and the National Cancer Institute (7R01HG013851-02).

The toolkit was developed by the FOCUS Study research team.

We would like to acknowledge the feedback and guidance provided by the FOCUS Advisory Panel throughout this process. In addition, we are grateful to the students whose efforts supported the preliminary development of the toolkit.

The toolkit is designed for anyone involved in any phase of the implementation process of a PGS program in a health system. This includes:
  • Clinical leaders
  • Genetic counselors
  • Primary Care Providers
  • Health care administrators
  • Project Managers
  • IT and informatics staff
  • Lab professionals
  • Senior level leaders
  • and others actively involved in PGS planning or delivery.

The toolkit is designed to be used in any phase of the implementation process of a PGS program in a health system. This includes:

  • Pre-adoption: Health care institutions evaluating the needs and potential fit of a PGS program, but who have not adopted a PGS program yet.
  • Implementation: Health care institutions who have made the adoption decision and are actively planning and/or delivering a PGS program within the institution.
  • Sustainment: Health care institutions who have embedded the PGS program within the organization’s routine operations and infrastructure; and the PGS program is supported by a stable, ongoing funding source.

Interactive Process Map

At the heart of the FOCUS Toolkit is an interactive process map guiding users through the key steps involved in each phase of PGS adoption, implementation and sustainment. The map is organized around three phases (described in detail below) and is designed to help you understand where you are in the process and what you need to do next.

Each step in the map is accompanied by:

  • A brief description of what the step involves
  • Links to relevant toolkit strategies and resources
  • A list of roles typically involved in that step

Resource Types 

Examples of resource types available in the toolkit include:

Resource Type Examples
Templates
Presentation Template: Presenting PGS for Leadership Buy-In Email Message Templates
Interactive tools
Organizational Diagnosis Tool
Organizational Readiness Assessment Tool
Cost Decision Support Tool
Interactive Process Map
PGS Program Map
Information guides
Best Practices for Building and Managing Teams
Public Facing Educational Materials Guide
Reference materials
PGS Gene Screening Panel
PGS Funding Sources
Example Patient Workflows
Videos
Hear real-world examples from team members at existing PGS programs on topics like:
• Using Insights from Other PGS Programs to Strengthen Pre-Adoption Planning
• Identifying and Securing Funding to Support a PGS Program
• Using a Pilot Phase to Test PGS Workflows
Navigating the Process Map The process map is divided into three phases, each representing a distinct stage of the PGS implementation journey: Phase 1: Pre-Adoption For those interested in or actively exploring PGS adoption. This phase focuses on:
  • Understanding population genomic screening (PGS)
  • Assessing whether a PGS program aligns with your institution’s needs and priorities
  • Preparing a plan and engaging institutional leadership to secure buy-in
Phase 2: Implementation For those whose institution has adopted PGS and is actively planning or implementing the program. This phase focuses on:
  • Designing and piloting a PGS program
  • Evaluating and refining the processes of a PGS program
  • Scaling efforts to support a full program launch and the integration of the PGS program into routine workflows
Phase 3: Sustainment For those institutions with an established PGS program. This phase focuses on:
  • Maintaining organizational support and momentum for PGS
  • Monitoring performance and outcomes
  • Continuously evaluating and adapting the program to meet the institution’s needs

Explore beyond your current phase. Even if your institution has been sustaining a PGS program for years, you may find valuable resources linked to the pre-adoption and implementation stages. Be sure to explore all stages to understand the breadth of resources available to you. 

Many resources are designed to work together. You will find that some of the resources reference one another or build on one another. This will be indicated in the instructions. For example, the pre-adoption Presentation Template: Presenting PGS for Leadership Buy-In includes slides for users to insert their institution-specific results from the Cost Decision Support Tool.

Adapt resources to your context. Each institution has different structures, needs, and priorities. The resources in this toolkit were designed to provide a foundation users can adapt to fit their institution’s context. We encourage you to customize templates with your institution’s branding, tailor messages to your intended audience, and modify tools to reflect your program’s goals.

Involve the right people. While each step of the process map includes a list of suggested roles and responsibilities derived from existing PGS sites, these may differ across different institutions. Use the suggested list as a guide to help identify key stakeholders and to ensure that the appropriate voices are represented throughout each step of the process.

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The FOCUS Toolkit is a living resource. We welcome your feedback. To share comments or report a broken link, or if you think there is something missing, please contact the study team at FOCUS_PGSAHWFB@Advocatehealth.org

References

  1. Evans JP, Khoury MJ. The arrival of genomic medicine to the clinic is only the beginning of the journey. Genet Med. 2013;15(4):268-9. doi:10.1038/gim.2012.133
  2. Evans JP, Berg JS, Olshan AF, Magnuson T, Rimer BK. We screen newborns, don’t we?: realizing the promise of public health genomics. Genet Med. 2013;15(5):332-4. doi:10.1038/gim.2013.11
  3. Murray MF, Evans JP, Angrist M, et al. A proposed approach for implementing genomics-based screening programs for healthy adults. NAM Perspectives. 2018. doi:10.31478/201812a
  4. Manickam K, Buchanan AH, Schwartz MLB, et al. Exome sequencing-based screening for BRCA1/2 expected pathogenic variants among adult biobank participants. JAMA Netw Open. 2018;1(5):e182140. doi:10.1001/jamanetworkopen.2018.2140
  5. Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci USA. 2014;111(39):14205-10. doi:10.1073/pnas.1415979111
  6. Williams MS. Population screening in health systems. Annu Rev Genomics Hum Genet. 2022;23:549-567. doi:10.1146/annurev-genom-111221-115239
  7. Halbert CH. Equity in genomic medicine. Annu Rev Genomics Hum Genet. 2022;23:613-625. doi:10.1146/annurev-genom-112921-022635
  8. Green RF, Ari M, Kolor K, et al. Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework. Genet Med. 2019;21(1):28-37. doi:10.1038/s41436-018-0028-2
  9. Ginsburg G, Penny M, Feero WG, Miller M, Addie S, Beachy SH. The National Academies’ Roundtable on Genomics and Precision Health: Where we have been and where we are heading. Am J Hum Genet. 2021;108(10):1817-1822. doi:10.1016/j.ajhg.2021.08.015
  10. Foss KS, O’Daniel JM, Berg JS, et al. The rise of population genomic screening: characteristics of current programs and the need for evidence regarding optimal implementation. J Pers Med. 2022;12(5): 692. doi:10.3390/jpm12050692
  11. Shen EC, Srinivasan S, Passero LE, et al. Barriers and facilitators for population genetic screening in healthy populations: a systematic review. Front Genet. 2022;13. doi:10.3389/fgene.2022.865384
  12. Khoury MJ, Feero WG, Chambers DA, et al. A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health. PLoS Med. 2018;15(8):e1002631. doi:10.1371/journal.pmed.1002631
  13. Allen CG, Judge DP, Levin E, et al. A pragmatic implementation research study for In Our DNA SC: a protocol to identify multi-level factors that support the implementation of a population-wide genomic screening initiative in diverse populations. Implement Sci Commun. 2022;3(1):48. doi:10.1186/s43058-022-00286-2