SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2021
The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 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.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Identifying Behaviour Change Techniques in Cancer Nutrition Interventions and Their Implementation Contexts: A Systematic Review.Nutrients · 2026Pooled it
- Building capacity for genomics in primary care: a scoping review of practitioner attitudes, education needs, and enablers.Frontiers in medicine · 2025Pooled it
- Improving Lynch syndrome detection: a mixed-methods process evaluation of a hybrid type III effectiveness-implementation trial.BMC health services research · 2024Trial
- Consumer acceptability of a cancer registry-driven familial cancer testing pathway: a qualitative study using the Theoretical Framework of Acceptability.Future oncology (London, England) · 2026Article
- Ethically Integrating Genomics in Primary Care: An Invitation to Share Implementation Best Practices.Mayo Clinic proceedings · 2026Article
- Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision-making processes.Journal of genetic counseling · 2025Article
- Professionally led support groups for people living with advanced or metastatic cancer: a systematic scoping review of effectiveness and factors critical to implementation success within real-world healthcare and community settings.Journal of cancer survivorship : research and practice · 2025Article
- Applying theories, models, and frameworks to help genetic counselors and students achieve clinical and professional goals.Journal of genetic counseling · 2025Article
- Genomic Screening at a Single Health System.JAMA network open · 2025Article
- Combining Implementation and Data Sciences to Accelerate Evidence Integration into Healthcare - ImpleMATE.F1000Research · 2025Article
- Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.Kidney international reports · 2024Article
- Aligning intuition and theory: a novel approach to identifying the determinants of behaviours necessary to support implementation of evidence into practice.Implementation science : IS · 2023Article
- Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception.Breast cancer research and treatment · 2023Article
- The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Article
- Implementing organized colorectal cancer screening programs in Europe-protocol for a systematic review of determinants and strategies.Systematic reviews · 2023Article
- Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care.Cancer control : journal of the Moffitt Cancer CenterArticle
- Effective General Practice-Led Interventions to Increase Uptake in Colorectal Cancer Screening: A Scoping Review.Journal of public health management and practice : JPHMPArticle
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
No grant is acknowledged in the PubMed record.
Abstract
purposeDespite rapid advancements in genetics and genomics, referral practices remain suboptimal. This systematic review assesses the extent to which approaches from implementation science have been applied to address suboptimal genetic referral practices.
methodsA search of MEDLINE, EMBASE, and PsycINFO generated 7,794 articles, of which 28 were included. Lay barriers were mapped to the Theoretical Domains Framework (TDF) and interventions mapped to behavior change techniques. Use of implementation and behavior change frameworks was assessed, and the Theory and Techniques Tool used to determine theoretical alignment.
resultsKnowledge was the most frequent retrospectively TDF-coded barrier, followed by environmental context and resources, and skills. Significant referral improvements occurred in 56% of studies. Among these, the most frequent interventions were clinical data review systems, family history collection and referral tools, and embedding genetics staff into nongenetic specialties. Few studies used implementation frameworks or reported implementation outcomes, though some deployed intuitive strategies that aligned with theory.
conclusionGenetic referral interventions are rarely informed by implementation and/or behavior change theories, limiting opportunities for learning across contexts. Retrospective coding has provided a suite of theoretically linked strategies, which may be useful for informing future efforts. Incorporating these strategies into clinical guidelines may facilitate operationalization within the system.
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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.