ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

By R. Green, J. Berg, W. Grody, Sarah S. Kalia, B. Korf, C. Martin, A. McGuire, R. Nussbaum, Julianne M. O’Daniel, K. Ormond and 4 more. Genetics in Medicine, 2013

2,486 citations recorded by the source corpus.

Subfields: Cancer Research, Genetics, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/a41bd1a3a87ea658e3f635e8fc3fea4a5cb75a1b

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Citations in the corpus

Genomic diagnosis for children with intellectual disability and/or developmental delay (2016, methodology): “0%), a rate similar to that observed in other cohorts [14, 30].”
Returning Individual Research Results to Participants: Guidance for a New Research Paradigm (2018, background): “…to prevent harm by warning patients and their families about certain incidental findings and that this principle supersedes concerns about autonomy” (Green et al., 2013, p. 6).2 2 With this recommendation in mind the Working Group emphasized the importance of talking with patients in advance…”
Database resources of the National Center for Biotechnology Information (2014, background): “gov/clinvar? term=%22gene%20acmg%20incidental%202013%22[Properties]) to retrieve all records of variants in genes for which investigators should report incidental findings as recommended by the American College of Medical Genetics and Genomics (9).”
Behavioral Impact of Return of Genetic Test Results for Complex Disease: Systematic Review and Meta-analysis (2018, neutral): “…return of results for APOE-e4 carrier status and Alzheimer’s disease is not typically recommended (Burke et al., 2013), because it is not clinically actionable (Green et al., 2013; Hegde et al., 2015; National Society of Genetic Counselors, 2013), despite its strong effect (Corder et al., 1993).”
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine (2013, neutral): “…point is particularly pertinent in the clinical setting, where a greater burden of proof may be required for use in diagnostic and predictive medicine, and when considering the return of incidental ﬁndings to patients after testing (Green et al. 2012, 2013; Ng et al. 2013; Gonsalves et al. 2013).”
ClinVar: public archive of relationships among sequence variation and human phenotype (2013, background): “One is the list of genes and disorders for whichACMGrecommends that incidental findings should be reported (14) (http://www.”
Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning (2020, methodology): “We also use this data to extract all seen pairs of amino acid variants in the same gene, and their frequencies, across the 59 “actionable genes” as defined by ACMG [11] (Supplementary Table 8).”
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. (2017, background): “16 are associated with cancer predisposition susceptibility genes that will likely be on somatic testing panels.(108) Disclosure is recommended even when the germline is only being evaluated as part of a tumor/normal study.”
American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. (2010, neutral): “However, there is an active debate as to whether there is an obligation to actively seek germline mutations in certain genes in the setting of tumor mutation profiling employing a matched normal sample, even if that information is not germane to the primary purpose of the test.(10,11) Using a taxono”
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies (2017, neutral): “The various HGMD variant classes described above should not be cross-correlated with the ‘benign to patho-genic’ 5-point classiﬁcation system adopted by the ACMG consortium (Green et al. 2013).”