ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 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
- 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
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.European journal of human genetics : EJHG · 2024Article
- Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2021Article
- Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.Human genetics · 2021Article
- Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Ethics in genetic counselling.Journal of community genetics · 2019Review
- 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
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Human genetics · 2017Review
- Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.European journal of human genetics : EJHG · 2017Article
- Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Journal of neural transmission (Vienna, Austria : 1996) · 2017Review
- Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.European journal of human genetics : EJHG · 2017Article
- Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer.NPJ genomic medicine · 2017Article
- Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2016Article
- Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Science translational medicine · 2016Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
purposeIn March 2013 the American College of Medical Genetics and Genomics published a list of 56 genes with the recommendation that pathogenic and likely pathogenic variants detected incidentally by clinical sequencing be reported to patients. As an initial step in determining the practical consequences of this recommendation in the research setting, we searched for variants in these genes in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
methodsWe identified rare, nonsynonymous, and splicing single-nucleotide variants and insertions/deletions and assessed variant classification using the Human Gene Mutation, Emory, and ClinVar databases. We analyzed the burden of mutation in each of the 56 genes and determined which variants should be reported to patients.
resultsOur filtering resulted in 249 distinct variants, with a mean of 1.69 variants per individual. Half of these were novel missense mutations not classified by any of the three reference databases. Of 101 variants listed in the Human Gene Mutation Database, 48 were also in ClinVar and 3 were also in Emory; half of these shared variants were classified discordantly between databases. Some genes consistently had greater variation than others. In total, 0.86% of individuals had a reportable incidental variant.
conclusionThese observations demonstrate some current challenges of assessing phenotypic consequences of incidental variants for counseling patients.
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