ReviewGenetics in medicine : official journal of the American College of Medical Genetics2017
The current state of implementation science in genomic medicine: opportunities for improvement.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 98 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
98 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Financing and Reimbursement Models for Personalised Medicine: A Systematic Review to Identify Current Models and Future Options.Applied health economics and health policy · 2022Pooled it
- The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Initiatives to Scale Up and Expand Reach of Cancer Genomic Services Outside of Specialty Clinical Settings: A Systematic Review.American journal of preventive medicine · 2021Pooled it
- Health system interventions to integrate genetic testing in routine oncology services: A systematic review.PloS one · 2021Pooled it
- Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Characteristics and evaluation outcomes of genomics curricula for health professional students: a systematic literature review.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- A theory-informed systematic review of clinicians' genetic testing practices.European journal of human genetics : EJHG · 2018Pooled it
- Improving Lynch syndrome detection: a mixed-methods process evaluation of a hybrid type III effectiveness-implementation trial.BMC health services research · 2024Trial
- Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial.BMC health services research · 2021Trial
- Pragmatic Trials in Genomic Medicine: The Integrating Pharmacogenetics In Clinical Care (I-PICC) Study.Clinical and translational science · 2020Trial
- Article
- Personal Health Data Spaces for precision prevention and continuity of care: integrating genomic, imaging, and clinical data in primary care.Frontiers in medicine · 2026Article
- Precision nutrition in Asian populations: a Multi-omics review of mechanisms, biomarkers, and implementation pathways.Journal of nutritional science · 2026Review
- Implementing Genomic Medicine in a Federally Qualified Health Center: Assessing Readiness through a Mixed-Methods Approach.Public health genomics · 2026Article
- From Biobank to "Bio-Think-Tank": Functional Evolution of UK Biobank in Public Health Policy Making.Public health reviews · 2026Review
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Polygenic risk scores in the clinic: Health-system leaders and primary care providers weigh in.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.European journal of human genetics : EJHG · 2025Review
- Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder.Family medicine and community health · 2025Article
- Proactive process evaluation of precision medicine platforms: a roadmap.BMJ health & care informatics · 2025Article
38 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
purposeThe objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine.
methodsWe conducted a literature review using the Centers for Disease Control and Prevention's Public Health Genomics Knowledge Base to examine the current literature in the field of implementation science in genomic medicine. We selected original research articles based on specific inclusion criteria and then abstracted information about study design, genomic medicine, and implementation outcomes. Data were aggregated, and trends and gaps in the literature were discussed.
resultsOur final review encompassed 283 articles published in 2014, the majority of which described uptake (35.7%, n = 101) and preferences (36.4%, n = 103) regarding genomic technologies, particularly oncology (35%, n = 99). Key study design elements, such as racial/ethnic composition of study populations, were underreported in studies. Few studies incorporated implementation science theoretical frameworks, sustainability measures, or capacity building.
conclusionAlthough genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited. Current gaps in the literature demonstrate a need to apply implementation science principles to genomic medicine in order to deliver on the promise of precision medicine.Genet Med advance online publication 12 January 2017.
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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.