ArticleAmerican journal of human genetics2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 237 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.
A Prospective, Non-Randomized, Multi-Center Observational Study to Establish a Physical Baseline Profile for Individual Study Subjects Using Various Modalities and Identify Deviations Via Longitudinal Monitoring That May Develop Over Time
A Prospective, Non-Randomized, Multi-Center Observational Study to Establish a Physical Baseline Profile for Individual Study Subjects Using Various Modalities and Identify Deviations Via Longitudinal Monitoring for Participants Ages 6 Through 18
Who cites it
237 citing papers in PubMed, 2 syntheses or guidelines pooled it, 381 citations in OpenAlex.
- Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives.Frontiers in genetics · 2019Pooled it
- Targeted Sequencing and Meta-Analysis of Preterm Birth.PloS one · 2016Pooled it
- Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.Contemporary clinical trials · 2019Trial
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Annals of internal medicine · 2017Trial
- Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.Contemporary clinical trials · 2017Trial
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.Children (Basel, Switzerland) · 2026Article
- Pathogenic variation distribution of ACMG 3.2 list genes in 11 ethnic groups in southwest China.BMC genomics · 2026Article
- Article
- From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.Biomedicines · 2025Article
- AHeartRhythm case reports · 2025Article
- A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.Scientific reports · 2025Article
- The distribution of highly deleterious variants across human ancestry groups.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing.Communications medicine · 2025Article
- Secondary Findings from Exome Sequencing of a Greek Cohort.Current issues in molecular biology · 2025Article
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- A stratified two-stage tumor molecular profiling algorithm to identify clinically actionable molecular alterations in pancreatic cancer.ESMO gastrointestinal oncology · 2025Article
- Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.European journal of human genetics : EJHG · 2024Article
- Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).European journal of human genetics : EJHG · 2024Article
177 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
26 authors at 2 institutions in 1 country.
Funding
Abstract
The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no large-scale study has yet estimated the number of expected actionable findings per individual; therefore, we classified actionable pathogenic single-nucleotide variants in 500 European- and 500 African-descent participants randomly selected from the National Heart, Lung, and Blood Institute Exome Sequencing Project. The 1,000 individuals were screened for variants in 114 genes selected by an expert panel for their association with medically actionable genetic conditions possibly undiagnosed in adults. Among the 1,000 participants, 585 instances of 239 unique variants were identified as disease causing in the Human Gene Mutation Database (HGMD). The primary literature supporting the variants' pathogenicity was reviewed. Of the identified IFs, only 16 unique autosomal-dominant variants in 17 individuals were assessed to be pathogenic or likely pathogenic, and one participant had two pathogenic variants for an autosomal-recessive disease. Furthermore, one pathogenic and four likely pathogenic variants not listed as disease causing in HGMD were identified. These data can provide an estimate of the frequency (∼3.4% for European descent and ∼1.2% for African descent) of the high-penetrance actionable pathogenic or likely pathogenic variants in adults. The 23 participants with pathogenic or likely pathogenic variants were disproportionately of European (17) versus African (6) descent. The process of classifying these variants underscores the need for a more comprehensive and diverse centralized resource to provide curated information on pathogenicity for clinical use to minimize health disparities in genomic medicine.
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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.