SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2017
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.
Synthesis 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. Cited by 90 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
90 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Systematic review of preferences for additional findings from genomic testing.European journal of human genetics : EJHG · 2026Pooled it
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.BMC pediatrics · 2021Pooled it
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project.European journal of human genetics : EJHG · 2026Article
- Moving from Bench to Bedside: A Social History of Actionability in Biomedicine.medRxiv : the preprint server for health sciences · 2026Article
- Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.European journal of human genetics : EJHG · 2026Article
- Incidental Detection of Diffuse Large B-cell Lymphoma by Non-invasive Prenatal Testing: A Case Report.Cureus · 2026Article
- Article
- Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing.European journal of human genetics : EJHG · 2026Article
- Study design with responsible return of results for a fully remote genome sequencing study in individuals with Prader-Willi syndrome.Genetics in medicine open · 2026Article
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- A Complete Picture of theInternational journal of molecular sciences · 2025Article
- Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.Paediatrics & child health · 2025Article
- Article
- "I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.European journal of human genetics : EJHG · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- Genomic Screening at a Single Health System.JAMA network open · 2025Article
- Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?PloS one · 2025Article
30 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
5 authors.
Funding
Abstract
purposeAs whole-exome sequencing (WES) and whole-genome sequencing (WGS) move into routine clinical practice, it is timely to review data that might inform the debate regarding secondary findings (SF) and the development of policies that maximize participant benefit.
methodsWe systematically searched for qualitative and quantitative studies that explored stakeholder views on SF in WES/WGS. Framework analysis was undertaken to identify major themes.
resultsForty-four articles reporting the views of 11,566 stakeholders were included. Stakeholders were broadly supportive of returning "actionable" findings, but definitions of actionability varied. Stakeholder views on SF disclosure exist along a spectrum: potential WES/WGS recipients' views were largely influenced by a sense of rights, whereas views of genomics professionals were informed by a sense of professional responsibility. Experience with genetic illness and testing resulted in greater caution about SF, suggesting that truly informed decisions require an understanding of the implications and limitations of WES/WGS and possible findings.
conclusionThis review suggests that bidirectional interaction during consent might best facilitate informed decision making about SF and that dynamic forms of consent, allowing for changing preferences, should be considered. Research exploring views from wider perspectives and from recipients who have received SF is critical if evidence-based policies are to be achieved.Genet Med 19 3, 283-293.
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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.