ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 3 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
14 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Effect of Virtual Reality on Balance Function in Children With Cerebral Palsy: A Systematic Review and Meta-analysis.Frontiers in public health · 2022Pooled it
- Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.Frontiers in public health · 2021Pooled it
- Economic evaluation of genomic sequencing in the paediatric population: a critical review.European journal of human genetics : EJHG · 2018Pooled it
- The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.European journal of human genetics : EJHG · 2026Review
- Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.NPJ genomic medicine · 2025Article
- Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.Molecular genetics & genomic medicine · 2023Article
- Whole exome sequencing in molecular diagnostics of cancer decreases over time: evidence from a cost analysis in the French setting.The European journal of health economics : HEPAC : health economics in prevention and care · 2021Article
- Evaluating the resource implications of different service delivery models for offering additional genomic findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Interpretations of the Term "Actionable" when Discussing Genetic Test Results: What you Mean Is Not What I Heard.Journal of genetic counseling · 2019Article
- Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2018Article
- Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study.European journal of human genetics : EJHG · 2018Article
- Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Frontiers in genetics · 2018Review
- What are people willing to pay for whole-genome sequencing information, and who decides what they receive?Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Assessing the Costs and Cost-Effectiveness of Genomic Sequencing.Journal of personalized medicine · 2015Review
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
The American College of Medical Genetics and Genomics (ACMG) recommends that mutations in 56 genes for 24 conditions are clinically actionable and should be reported as secondary findings after whole-genome sequencing (WGS). Our aim was to identify published economic evaluations of detecting mutations in these genes among the general population or among targeted/high-risk populations and conditions and identify gaps in knowledge. A targeted PubMed search from 1994 through November 2014 was performed, and we included original, English-language articles reporting cost-effectiveness or a cost-to-utility ratio or net benefits/benefit-cost focused on screening (not treatment) for conditions and genes listed by the ACMG. Articles were screened, classified as targeting a high-risk or general population, and abstracted by two reviewers. General population studies were evaluated for actual cost-effectiveness measures (e.g., incremental cost-effectiveness ratios (ICER)), whereas studies of targeted populations were evaluated for whether at least one scenario proposed was cost-effective (e.g., ICER of ≤$100,000 per life-year or quality-adjusted life-year gained). A total of 607 studies were identified, and 32 relevant studies were included. Identified studies addressed fewer than one-third (7 of 24; 29%) of the ACMG conditions. The cost-effectiveness of screening in the general population was examined for only 2 of 24 conditions (8%). The cost-effectiveness of most genetic findings that the ACMG recommends for return has not been evaluated in economic studies or in the context of screening in the general population. The individual studies do not directly address the cost-effectiveness of WGS.
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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.