ReviewGenetics in medicine : official journal of the American College of Medical Genetics2013
Recommendations for returning genomic incidental findings? We need to talk!
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 170 papers, 4 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
170 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Ethical Principles, Constraints and Opportunities in Clinical Proteomics.Molecular & cellular proteomics : MCP · 2021Pooled it
- Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2018Pooled it
- Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.Journal of medical genetics · 2015Guideline
- An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.European journal of medical genetics · 2025Trial
- Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized Trial.Annals of internal medicine · 2016Trial
- Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.Contemporary clinical trials · 2014Trial
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer.Genes · 2026Review
- A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).BMC medical ethics · 2026Article
- Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Structured Application of Genetic Testing in a Pediatric Kidney Clinic.Journal of the American Society of Nephrology : JASN · 2026Article
- 'Research ethics · 2024Article
- Islamic Viewpoints on Opportunistic Sex Selection of IVF Embryos upon doing Preimplantation Genetic Testing for Preventing Genetic Diseases.Asian bioethics review · 2024Article
- Pharmacogenomics for neurodegenerative disorders - a focused review.Frontiers in pharmacology · 2024Review
- Research Participants' Preferences for Individual Results of Pharmacogenomics Research: A Case of a Ugandan HIV Research Institute.Journal of empirical research on human research ethics : JERHRE · 2023Article
- Studying the impact of translational genomic research: Lessons from eMERGE.American journal of human genetics · 2023Review
- Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history.Forensic science international. Synergy · 2023Article
- Sociotechnical safeguards for genomic data privacy.Nature reviews. Genetics · 2022Review
- Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences.Journal of community genetics · 2022Article
110 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
18 authors.
Funding
Abstract
The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.
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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.