Facilitating the Implementation of Population-wide Genomic Screening across Diverse Populations and Settings (FOCUS): A Protocol for an Implementation Mapping Study to Identify Best Practices for Implementing Population-wide Genomic Screening Programs (Preprint) Article Swipe
Caitlin G. Allen
,
Jarrod Marable
,
Kimberly Foss
,
Carl E. Whitcomb
,
Ceborah Cragun
,
Adam H. Buchanan
,
Miranda L. G. Hallquist
,
Nathaniel R. Baker
,
Ronald J. Bosch
,
Derek W. Craig
,
María E. Fernández
,
Chanita Hughes Halbert
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.2196/preprints.73718
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.2196/preprints.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 US. 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. OBJECTIVE To address these challenges, we are completing the FOCUS project, which will develop and test a freely available, equity-centered online implementation toolkit to guide best practices for implementing PGS. METHODS The FOCUS project aims to 1) examine barriers and facilitators of equitable PGS implementation at sites at various stages of implementation, 2) develop implementation strategies with input from a diverse 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. RESULTS - CONCLUSIONS With a focus on health equity and stakeholder engagement, the FOCUS toolkit will establish a standardized approach to scaling PGS programs across diverse populations and settings, ensuring genomics benefits are accessible to all. CLINICALTRIAL
Related Topics
Concepts
Protocol (science)
Focus (optics)
Population
Data science
Genomic selection
Best practice
Medicine
Computer science
Biology
Alternative medicine
Genetics
Political science
Environmental health
Single-nucleotide polymorphism
Genotype
Pathology
Gene
Physics
Law
Optics
Metadata
- Type
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- Language
- en
- Landing Page
- https://doi.org/10.2196/preprints.73718
- https://s3.ca-central-1.amazonaws.com/assets.jmir.org/assets/preprints/preprint-73718-submitted.pdf
- OA Status
- gold
- References
- 45
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4408356586
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4408356586Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.2196/preprints.73718Digital Object Identifier
- Title
-
Facilitating the Implementation of Population-wide Genomic Screening across Diverse Populations and Settings (FOCUS): A Protocol for an Implementation Mapping Study to Identify Best Practices for Implementing Population-wide Genomic Screening Programs (Preprint)Work title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-03-11Full publication date if available
- Authors
-
Caitlin G. Allen, Jarrod Marable, Kimberly Foss, Carl E. Whitcomb, Ceborah Cragun, Adam H. Buchanan, Miranda L. G. Hallquist, Nathaniel R. Baker, Ronald J. Bosch, Derek W. Craig, María E. Fernández, Chanita Hughes HalbertList of authors in order
- Landing page
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https://doi.org/10.2196/preprints.73718Publisher landing page
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https://s3.ca-central-1.amazonaws.com/assets.jmir.org/assets/preprints/preprint-73718-submitted.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://s3.ca-central-1.amazonaws.com/assets.jmir.org/assets/preprints/preprint-73718-submitted.pdfDirect OA link when available
- Concepts
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Protocol (science), Focus (optics), Population, Data science, Genomic selection, Best practice, Medicine, Computer science, Biology, Alternative medicine, Genetics, Political science, Environmental health, Single-nucleotide polymorphism, Genotype, Pathology, Gene, Physics, Law, OpticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- References (count)
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45Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| referenced_works | https://openalex.org/W1970777326, https://openalex.org/W1973229785, https://openalex.org/W2897424463, https://openalex.org/W2080103464, https://openalex.org/W4212834704, https://openalex.org/W4224991075, https://openalex.org/W2885237523, https://openalex.org/W2903269682, https://openalex.org/W4223632206, https://openalex.org/W4283792146, https://openalex.org/W4225091919, https://openalex.org/W2800550239, https://openalex.org/W2531587846, https://openalex.org/W4238123789, https://openalex.org/W2922534626, https://openalex.org/W2790825566, https://openalex.org/W2951797883, https://openalex.org/W4206949803, https://openalex.org/W4307846395, https://openalex.org/W3024052173, https://openalex.org/W2946291116, https://openalex.org/W2914884711, https://openalex.org/W2120079020, https://openalex.org/W3107546150, https://openalex.org/W2938766056, https://openalex.org/W3119474493, https://openalex.org/W4366986864, https://openalex.org/W2010049072, https://openalex.org/W2947410237, https://openalex.org/W3088012627, https://openalex.org/W2140092196, https://openalex.org/W2750615195, https://openalex.org/W4281391415, https://openalex.org/W2101754128, https://openalex.org/W2083400805, https://openalex.org/W2093274439, https://openalex.org/W2032039690, https://openalex.org/W2003583202, https://openalex.org/W3083397101, https://openalex.org/W2804954393, https://openalex.org/W2158216526, https://openalex.org/W2907821844, https://openalex.org/W2054103341, https://openalex.org/W3202688621, https://openalex.org/W2808618227 |
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