ArticleScience translational medicine2016
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Article in Science translational medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04196374 (Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts), which is not on this map. Cited by 46 papers.
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.
Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts
Who cites it
46 citing papers in PubMed.
- Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.European journal of human genetics : EJHG · 2026Article
- Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations.Nature genetics · 2026Article
- Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns.NPJ genomic medicine · 2026Article
- The continuum of prevention and heart failure in cardiovascular medicine: A joint scientific statement from the Heart Failure Society of America and the American Society for Preventive Cardiology.American journal of preventive cardiology · 2025Review
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.Health education & behavior : the official publication of the Society for Public Health Education · 2025Article
- Developing a genetic return of results service core.Journal of clinical and translational science · 2025Article
- Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System.BMC cancer · 2024Article
- Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.American journal of human genetics · 2024Article
- Phenotypes of undiagnosed adults with actionableHGG advances · 2023Article
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.Circulation. Genomic and precision medicine · 2023Article
- Secondary findings in a large Pakistani cohort tested with whole genome sequencing.Life science alliance · 2023Article
- When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Review
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Hereditary variants of unknown significance in African American women with breast cancer.PloS one · 2022Article
- Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.American journal of human genetics · 2021Article
- Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.Genome medicine · 2021Article
- A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
In populations that have not been selected for family history of disease, it is unclear how commonly pathogenic variants (PVs) in disease-associated genes for rare Mendelian conditions are found and how often they are associated with clinical features of these conditions. We conducted independent, prospective analyses of participants in two community-based epidemiological studies to test the hypothesis that persons carrying PVs in any of 56 genes that lead to 24 dominantly inherited, actionable conditions are more likely to exhibit the clinical features of the corresponding diseases than those without PVs. Among 462 European American Framingham Heart Study (FHS) and 3223 African-American Jackson Heart Study (JHS) participants who were exome-sequenced, we identified and classified 642 and 4429 unique variants, respectively, in these 56 genes while blinded to clinical data. In the same participants, we ascertained related clinical features from the participants' clinical history of cancer and most recent echocardiograms, electrocardiograms, and lipid measurements, without knowledge of variant classification. PVs were found in 5 FHS (1.1%) and 31 JHS (1.0%) participants. Carriers of PVs were more likely than expected, on the basis of incidence in noncarriers, to have related clinical features in both FHS (80.0% versus 12.4%) and JHS (26.9% versus 5.4%), yielding standardized incidence ratios of 6.4 [95% confidence interval (CI), 1.7 to 16.5; P = 7 × 10
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