ArticleJournal of personalized medicine2022
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health.
Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- PROTOCOL: Utilisation of Genetics and Genomics in Primary Care: Protocol for an Evidence and Gap Map.Campbell systematic reviews · 2026Review
- A Value Framework for Evaluating Population Genomic Programs: A Mixed Methods Approach.Journal of personalized medicine · 2025Article
- A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Challenges and solutions to system-wide use of precision oncology as the standard of care paradigm.Cambridge prisms. Precision medicine · 2024Review
- HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2023Article
- "A very big challenge": a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England.Frontiers in genetics · 2023Article
- Paving a pathway for large-scale utilization of genomics in precision medicine and population health.Frontiers in sociology · 2023Article
Corrections and comments
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Authors and funding
43 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical use of genomic analysis has expanded rapidly resulting in an increased availability and utility of genomic information in clinical care. We have developed an infrastructure utilizing informatics tools and clinical processes to facilitate the use of whole genome sequencing data for population health management across the healthcare system. Our resulting framework scaled well to multiple clinical domains in both pediatric and adult care, although there were domain specific challenges that arose. Our infrastructure was complementary to existing clinical processes and well-received by care providers and patients. Informatics solutions were critical to the successful deployment and scaling of this program. Implementation of genomics at the scale of population health utilizes complicated technologies and processes that for many health systems are not supported by current information systems or in existing clinical workflows. To scale such a system requires a substantial clinical framework backed by informatics tools to facilitate the flow and management of data. Our work represents an early model that has been successful in scaling to 29 different genes with associated genetic conditions in four clinical domains. Work is ongoing to optimize informatics tools; and to identify best practices for translation to smaller healthcare systems.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.