ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03829176 (Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder), which is not on this map. Cited by 70 papers, 2 of them syntheses that pooled it.
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.
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
Who cites it
70 citing papers in PubMed, 2 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype.Clinical pharmacology and therapeutics · 2023Guideline
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Principles and practices of returning individual research results to participants in large studies of pregnancy and childhood.American journal of epidemiology · 2025Article
- Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.Annual review of genomics and human genetics · 2023Review
- Studying the impact of translational genomic research: Lessons from eMERGE.American journal of human genetics · 2023Review
- Impact of incidental findings on young adult participants in brain imaging research: an interview study.European radiology · 2022Article
- Article
- A survey of aortic disease biorepository participants' preferences for return of research genetic results.Journal of genetic counseling · 2021Article
- Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.Cardiovascular diagnosis and therapy · 2021Article
- Pharmacogenomics and Cardiovascular Disease: Where are We and Where do We go from Here?Arquivos brasileiros de cardiologia · 2020Article
- Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review.Journal of medical Internet research · 2020Article
- "Just tell me what's going on": The views of parents of children with genetic conditions regarding the research use of their child's electronic health record.Journal of the American Medical Informatics Association : JAMIA · 2020Article
- Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.American journal of human genetics · 2019Article
- Opportunities, resources, and techniques for implementing genomics in clinical care.Lancet (London, England) · 2019Review
- Strategies to Guide the Return of Genomic Research Findings: An Australian Perspective.Journal of bioethical inquiry · 2018Article
- Ethical Issues in Contemporary Clinical Genetics.Mayo Clinic proceedings. Innovations, quality & outcomes · 2018Article
- Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Clinician-Stakeholders' Perspectives on Using Patient Portals to Return Lynch Syndrome Screening Results.Journal of genetic counseling · 2018Article
- Beyond Consent: Building Trusting Relationships With Diverse Populations in Precision Medicine Research.The American journal of bioethics : AJOB · 2018Article
10 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
20 authors at 10 institutions in 1 country.
Funding
Abstract
purposeReturn of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors.
methodsThe Electronic Medical Records and Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return of results oversight committee to identify potentially returnable results. Network-wide deliberations were then brought to local constituencies for final decision making.
resultsDefining results that should be considered for return required input from clinicians with relevant expertise and much deliberation. The return of results oversight committee identified two sex chromosomal anomalies, Klinefelter syndrome and Turner syndrome, as well as homozygosity for factor V Leiden, as findings that could warrant reporting. Views about returning findings of HFE gene mutations associated with hemochromatosis were mixed due to low penetrance. Review of electronic medical records suggested that most participants with detected abnormalities were unaware of these findings. Local considerations relevant to return varied and, to date, four sites have elected not to return findings (return was not possible at one site).
conclusionThe eMERGE experience reveals the complexity of return of results decision making and provides a potential deliberative model for adoption in other collaborative contexts.
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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.