ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature.Human genetics · 2025Pooled it
- From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.Biomedicines · 2025Article
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.Nature communications · 2025Article
- Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.Human genetics · 2023Article
- Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.Journal of personalized medicine · 2022Article
- Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.Circulation. Genomic and precision medicine · 2021Article
- Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.Journal of human genetics · 2021Article
- Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.Molecular genetics and metabolism reports · 2020Article
- Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.Human mutation · 2020Article
- Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.Yonsei medical journal · 2019Article
- 1 in 38 individuals at risk of a dominant medically actionable disease.European journal of human genetics : EJHG · 2019Article
- Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.Genome medicine · 2018Article
- High-frequency actionable pathogenic exome variants in an average-risk cohort.Cold Spring Harbor molecular case studies · 2018Article
- Secondary findings in 421 whole exome-sequenced Chinese children.Human genomics · 2018Article
- Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.Molecular genetics and genomics : MGG · 2018Article
- Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.European journal of human genetics : EJHG · 2018Article
- CRISPR-Cas9: a promising genetic engineering approach in cancer research.Therapeutic advances in medical oncology · 2018Review
- Lost in translation: returning germline genetic results in genome-scale cancer research.Genome medicine · 2017Article
- Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators.Journal of clinical and translational science · 2017Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
purposeUsing exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number and inheritance mode of reportable incidental sequence variants.
methodsFollowing the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings from next-generation sequencing, we extracted variants in 56 genes from the exome sequence data of 543 subjects and determined the reportable incidental findings for each participant. We also defined variant status as inherited or de novo for those with available parental sequence data.
resultsWe identified 14 independent reportable variants in 159 (8.8%) families. For nine families with parental sequence data in our cohort, a parent transmitted the variant to one or more children (nine minor children and four adult children). The remaining five variants occurred in adults for whom parental sequences were unavailable.
conclusionOur results are consistent with the expectation that a small percentage of exomes will result in identification of an incidental finding under the American College of Medical Genetics and Genomics recommendations. Additionally, our analysis of family sequence data highlights that genome and exome sequencing of families has unavoidable implications for immediate family members and therefore requires appropriate counseling for the family.
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