SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2021
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.
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 20 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic review of preferences for additional findings from genomic testing.European journal of human genetics : EJHG · 2026Pooled it
- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.European journal of human genetics : EJHG · 2026Article
- Opportunistic genomic screening of healthy controls in an Australian biobank.European journal of human genetics : EJHG · 2026Article
- Measuring disease likelihood in genomic ascertainment.American journal of human genetics · 2026Article
- Article
- Health actions after direct-to-consumer genetic testing for medically actionable conditions.Genetics in medicine open · 2026Article
- Implementing secondary findings analysis in a genetic and environmental research study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- "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
- Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports.Journal of genetic counseling · 2025Article
- Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.American journal of human genetics · 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
- Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Equitable Access to Genomic Molecular Testing for Australian Cancer Patients: Insights from the Victorian Precision Oncology Summit.Current oncology (Toronto, Ont.) · 2024Article
- Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.European journal of human genetics : EJHG · 2024Article
- Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Observational
- "How about me giving blood for the COVID vaccine and not being able to get vaccinated?" A cognitive interview study on understanding of and agreement with broad consent for future use of data and samples in Colombia and Nicaragua.PLOS global public health · 2023Article
- Article
- Investigating Psychological Impact after Receiving Genetic Risk Results-A Survey of Participants in a Population Genomic Screening Program.Journal of personalized medicine · 2022Article
- Invited Commentary on "My Research Results: a program to facilitate return of clinically actionable genomic research findings" by Willis et al.European journal of human genetics : EJHG · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
purposeSecondary findings (SFs) are present in 1-4% of individuals undergoing genome/exome sequencing. A review of how SFs are disclosed and what outcomes result from their receipt is urgent and timely.
methodsWe conducted a systematic literature review of SF disclosure practices and outcomes after receipt including cascade testing, family and provider communication, and health-care actions. Of the 1,184 nonduplicate records screened we summarize findings from 27 included research articles describing SF disclosure practices, outcomes after receipt, or both.
resultsThe included articles reported 709 unique SF index recipients/families. Referrals and/or recommendations were provided 647 SF recipients and outcome data were available for 236. At least one recommended evaluation was reported for 146 SF recipients; 16 reports of treatment or prophylactic surgery were identified. We found substantial variations in how the constructs of interest were defined and described.
conclusionVariation in how SF disclosure and outcomes were described limited our ability to compare findings. We conclude the literature provided limited insight into how the American College of Medical Genetics and Genomics (ACMG) guidelines have been translated into precision health outcomes for SF recipients. Robust studies of SF recipients are needed and should be prioritized for future research.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.