ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature.Human genetics · 2025Pooled it
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?PloS one · 2025Article
- Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.European journal of human genetics : EJHG · 2024Article
- Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.Human genetics · 2023Article
- Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.Learning health systems · 2023Article
- Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.Molecular genetics & genomic medicine · 2023Article
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.Genetics in medicine open · 2023Article
- Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Genome medicine · 2021Article
- Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Family history assessment significantly enhances delivery of precision medicine in the genomics era.Genome medicine · 2021Article
- A secure system for genomics clinical decision support.Journal of biomedical informatics · 2020Article
- Clinical utility of genomic sequencing.Current opinion in pediatrics · 2019Review
- Article
- 1 in 38 individuals at risk of a dominant medically actionable disease.European journal of human genetics : EJHG · 2019Article
- Genome-first findings require precision phenotyping.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.AJOB empirical bioethicsArticle
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19 authors.
Funding
Abstract
purposeClinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.
methodsExome/genome sequencing and analysis of 789 "unaffected" parents was performed.
resultsPathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7). A limited carrier screen was performed yielding 15 variants in 48 (6.1%) parents. Parents were also analyzed as mate pairs (n = 365) to identify cases in which both parents were carriers for the same recessive disease, yielding three such cases (0.8%), two of which had children with the relevant recessive disease. Four participants had two findings (one carrier and one noncarrier variant). In total, 71 of the 789 enrolled parents (9.0%) received secondary findings.
conclusionWe provide an overview of the rates and types of clinically relevant secondary findings, which may be useful in the design and implementation of research and clinical sequencing efforts to identify such findings.
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