Implementation Mapping to Identify Best Practices for Implementing Population-Wide Genomic Screening Programs: Protocol for the FOCUS (Facilitating the Implementation of Population-Wide Genomic Screening) Study Article Swipe
Megan C. Roberts
,
Jarrod Marable
,
Kimberly Foss
,
Carl E. Whitcomb
,
Deborah Cragun
,
Adam H. Buchanan
,
Miranda L. G. Hallquist
,
Nathaniel R. Baker
,
Ronald J. Bosch
,
Derek W. Craig
,
María E. Fernández
,
María E. Fernández
,
Chanita Hughes Halbert
,
Caitlin G. Allen
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.2196/73718
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.2196/73718
Background Population-wide genomic screening (PGS) for genetic conditions such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia presents opportunities to reduce morbidity and mortality among the 1%‐2% of the population at elevated risk for these serious, preventable diseases. With decreasing sequencing costs and growing support from national bodies, there are increasing numbers of PGS programs in the United States. However, guidelines and strategies to support implementation are limited, especially regarding equitable access to PGS. Contextual factors, such as organizational structures and processes, impact PGS implementation, often failing to benefit underrepresented populations. To address these challenges, we are completing the Facilitating the Implementation of Population-wide Genomic Screening (FOCUS) project, which will develop and test a freely available, web-based implementation toolkit to guide best practices for implementing PGS. Objective The FOCUS project aims to (1) examine barriers and facilitators of PGS implementation at diverse health systems, (2) develop implementation strategies with input from an advisory panel and package them into the FOCUS toolkit, and (3) evaluate the toolkit’s impact on improving PGS reach, effectiveness, adoption, and maintenance using a hybrid stepped-wedge cluster randomized trial design. Methods We will complete implementation mapping, guided by the Consolidated Framework for Implementation Research integrated with health equity, and the Reach, Effectiveness, Adoption, Implementation, and Maintenance framework for Health Equity to develop and evaluate an equity-focused PGS implementation toolkit. The study will involve 10 design sites to identify implementation barriers and facilitators and 12 Test Sites to assess the toolkit’s effectiveness. Both design and test sites will be representative of the following 4 stages of implementation: exploration or emerging, planning, implementation, and sustainment. Results The FOCUS project was funded in September 2024 and will conclude in June 2029. The project was funded through the Advancing Genomic Medicine Research Program at the National Human Genome Research Institute (R01HG013851-01). Data collection for aim 1 (qualitative interviews with implementation team members, patients, and laboratory vendors) began January 2024. At the time of reporting, 33 interviews have been completed with implementation team members, 8 with patients, and two with laboratory vendors. Qualitative analyses for aim 1 are underway at the time of reporting. Conclusions The FOCUS toolkit will establish a standardized approach to scaling PGS programs across diverse populations and settings, ensuring genomics benefits are accessible to all.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.2196/73718
- OA Status
- gold
- References
- 45
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4412917594
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4412917594Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.2196/73718Digital Object Identifier
- Title
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Implementation Mapping to Identify Best Practices for Implementing Population-Wide Genomic Screening Programs: Protocol for the FOCUS (Facilitating the Implementation of Population-Wide Genomic Screening) StudyWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-07-25Full publication date if available
- Authors
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Megan C. Roberts, Jarrod Marable, Kimberly Foss, Carl E. Whitcomb, Deborah Cragun, Adam H. Buchanan, Miranda L. G. Hallquist, Nathaniel R. Baker, Ronald J. Bosch, Derek W. Craig, María E. Fernández, María E. Fernández, Chanita Hughes Halbert, Caitlin G. AllenList of authors in order
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https://doi.org/10.2196/73718Publisher landing page
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://doi.org/10.2196/73718Direct OA link when available
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Protocol (science), Population, Focus (optics), Best practice, Data science, Computer science, Medicine, Environmental health, Alternative medicine, Political science, Law, Pathology, Optics, PhysicsTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.cluster | 184 |
| abstract_inverted_index.design. | 187 |
| abstract_inverted_index.develop | 115, 150, 219 |
| abstract_inverted_index.diverse | 146, 371 |
| abstract_inverted_index.equity, | 205 |
| abstract_inverted_index.examine | 138 |
| abstract_inverted_index.failing | 91 |
| abstract_inverted_index.genetic | 7 |
| abstract_inverted_index.genomic | 3 |
| abstract_inverted_index.growing | 48 |
| abstract_inverted_index.involve | 230 |
| abstract_inverted_index.numbers | 56 |
| abstract_inverted_index.ovarian | 14 |
| abstract_inverted_index.package | 160 |
| abstract_inverted_index.project | 134, 274, 287 |
| abstract_inverted_index.scaling | 367 |
| abstract_inverted_index.support | 49, 69 |
| abstract_inverted_index.through | 290 |
| abstract_inverted_index.toolkit | 123, 360 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.However, | 64 |
| abstract_inverted_index.Medicine | 294 |
| abstract_inverted_index.National | 299 |
| abstract_inverted_index.Research | 201, 295, 302 |
| abstract_inverted_index.advisory | 157 |
| abstract_inverted_index.analyses | 346 |
| abstract_inverted_index.approach | 365 |
| abstract_inverted_index.barriers | 139, 237 |
| abstract_inverted_index.benefits | 377 |
| abstract_inverted_index.complete | 191 |
| abstract_inverted_index.conclude | 282 |
| abstract_inverted_index.elevated | 36 |
| abstract_inverted_index.ensuring | 375 |
| abstract_inverted_index.evaluate | 168, 221 |
| abstract_inverted_index.factors, | 80 |
| abstract_inverted_index.familial | 20 |
| abstract_inverted_index.genomics | 376 |
| abstract_inverted_index.identify | 235 |
| abstract_inverted_index.limited, | 72 |
| abstract_inverted_index.mapping, | 193 |
| abstract_inverted_index.members, | 315, 336 |
| abstract_inverted_index.national | 51 |
| abstract_inverted_index.presents | 22 |
| abstract_inverted_index.programs | 59, 369 |
| abstract_inverted_index.project, | 112 |
| abstract_inverted_index.serious, | 40 |
| abstract_inverted_index.systems, | 148 |
| abstract_inverted_index.toolkit, | 165 |
| abstract_inverted_index.toolkit. | 226 |
| abstract_inverted_index.underway | 351 |
| abstract_inverted_index.vendors) | 319 |
| abstract_inverted_index.vendors. | 344 |
| abstract_inverted_index.Adoption, | 210 |
| abstract_inverted_index.Advancing | 292 |
| abstract_inverted_index.Framework | 198 |
| abstract_inverted_index.Institute | 303 |
| abstract_inverted_index.Objective | 131 |
| abstract_inverted_index.Screening | 110 |
| abstract_inverted_index.September | 278 |
| abstract_inverted_index.adoption, | 177 |
| abstract_inverted_index.completed | 332 |
| abstract_inverted_index.diseases. | 42 |
| abstract_inverted_index.emerging, | 266 |
| abstract_inverted_index.equitable | 75 |
| abstract_inverted_index.establish | 362 |
| abstract_inverted_index.following | 259 |
| abstract_inverted_index.framework | 214 |
| abstract_inverted_index.improving | 173 |
| abstract_inverted_index.morbidity | 26 |
| abstract_inverted_index.mortality | 28 |
| abstract_inverted_index.patients, | 316, 339 |
| abstract_inverted_index.planning, | 267 |
| abstract_inverted_index.practices | 127 |
| abstract_inverted_index.regarding | 74 |
| abstract_inverted_index.screening | 4 |
| abstract_inverted_index.settings, | 374 |
| abstract_inverted_index.syndrome, | 16, 18 |
| abstract_inverted_index.web-based | 121 |
| abstract_inverted_index.Background | 1 |
| abstract_inverted_index.Contextual | 79 |
| abstract_inverted_index.accessible | 379 |
| abstract_inverted_index.available, | 120 |
| abstract_inverted_index.collection | 306 |
| abstract_inverted_index.completing | 102 |
| abstract_inverted_index.conditions | 8 |
| abstract_inverted_index.decreasing | 44 |
| abstract_inverted_index.especially | 73 |
| abstract_inverted_index.guidelines | 65 |
| abstract_inverted_index.hereditary | 11 |
| abstract_inverted_index.increasing | 55 |
| abstract_inverted_index.integrated | 202 |
| abstract_inverted_index.interviews | 311, 329 |
| abstract_inverted_index.laboratory | 318, 343 |
| abstract_inverted_index.population | 34 |
| abstract_inverted_index.processes, | 86 |
| abstract_inverted_index.randomized | 185 |
| abstract_inverted_index.reporting, | 327 |
| abstract_inverted_index.reporting. | 356 |
| abstract_inverted_index.sequencing | 45 |
| abstract_inverted_index.strategies | 67, 152 |
| abstract_inverted_index.structures | 84 |
| abstract_inverted_index.Conclusions | 357 |
| abstract_inverted_index.Maintenance | 213 |
| abstract_inverted_index.Qualitative | 345 |
| abstract_inverted_index.challenges, | 99 |
| abstract_inverted_index.exploration | 264 |
| abstract_inverted_index.maintenance | 179 |
| abstract_inverted_index.populations | 372 |
| abstract_inverted_index.preventable | 41 |
| abstract_inverted_index.toolkit’s | 170, 247 |
| abstract_inverted_index.(qualitative | 310 |
| abstract_inverted_index.Consolidated | 197 |
| abstract_inverted_index.Facilitating | 104 |
| abstract_inverted_index.facilitators | 141, 239 |
| abstract_inverted_index.implementing | 129 |
| abstract_inverted_index.populations. | 95 |
| abstract_inverted_index.standardized | 364 |
| abstract_inverted_index.sustainment. | 270 |
| abstract_inverted_index.opportunities | 23 |
| abstract_inverted_index.stepped-wedge | 183 |
| abstract_inverted_index.Effectiveness, | 209 |
| abstract_inverted_index.Implementation | 106, 200 |
| abstract_inverted_index.effectiveness, | 176 |
| abstract_inverted_index.effectiveness. | 248 |
| abstract_inverted_index.equity-focused | 223 |
| abstract_inverted_index.implementation | 70, 122, 144, 151, 192, 225, 236, 313, 334 |
| abstract_inverted_index.organizational | 83 |
| abstract_inverted_index.representative | 256 |
| abstract_inverted_index.Implementation, | 211 |
| abstract_inverted_index.Population-wide | 2, 108 |
| abstract_inverted_index.implementation, | 89, 268 |
| abstract_inverted_index.implementation: | 263 |
| abstract_inverted_index.underrepresented | 94 |
| abstract_inverted_index.(R01HG013851-01). | 304 |
| abstract_inverted_index.hypercholesterolemia | 21 |
| cited_by_percentile_year | |
| countries_distinct_count | 1 |
| institutions_distinct_count | 14 |
| citation_normalized_percentile.value | 0.45117954 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |