ArticleHuman mutation2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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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.
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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.
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Who cites it
25 citing papers in PubMed.
- Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.Journal of human genetics · 2026Article
- Identifying indicators and targets for the new World Health Organization Global Framework on Infection Prevention and Control: an e-Delphi study.The Journal of hospital infection · 2025Article
- Clinical genome sequencing in patients with suspected rare genetic disease in Peru.NPJ genomic medicine · 2024Article
- Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Quality assurance within the context of genome diagnostics (a german perspective).Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.Genome medicine · 2023Article
- Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.European journal of human genetics : EJHG · 2023Article
- Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.Genome medicine · 2022Article
- Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.International journal of molecular sciences · 2022Article
- Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.Human reproduction (Oxford, England) · 2022Article
- ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ genomic medicine · 2022Review
- A practical approach to the genomics of kidney disorders.Pediatric nephrology (Berlin, Germany) · 2022Review
- The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Frontiers in genetics · 2022Article
- Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.American journal of human genetics · 2021Article
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Long overdue: including adults with brain disorders in precision health initiatives.Current opinion in genetics & development · 2020Review
- An ethical framework for genetic counseling in the genomic era.Journal of genetic counseling · 2020Article
- Biobanks could identify medically actionable findings relevant for COVID-19 clinical care.Nature medicine · 2020Article
- Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety.Current treatment options in pediatrics · 2020Review
Corrections and comments
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Authors and funding
24 authors.
Funding
Abstract
The use of genome-scale sequencing allows for identification of genetic findings beyond the original indication for testing (secondary findings). The ClinGen Actionability Working Group's (AWG) protocol for evidence synthesis and semi-quantitative metric scoring evaluates four domains of clinical actionability for potential secondary findings: severity and likelihood of the outcome, and effectiveness and nature of the intervention. As of February 2018, the AWG has scored 127 genes associated with 78 disorders (up-to-date topics/scores are available at www.clinicalgenome.org). Scores across these disorders were assessed to compare genes/disorders recommended for return as secondary findings by the American College of Medical Genetics and Genomics (ACMG) with those not currently recommended. Disorders recommended by the ACMG scored higher on outcome-related domains (severity and likelihood), but not on intervention-related domains (effectiveness and nature of the intervention). Current practices indicate that return of secondary findings will expand beyond those currently recommended by the ACMG. The ClinGen AWG evidence reports and summary scores are not intended as classifications of actionability, rather they provide a resource to aid decision makers as they determine best practices regarding secondary findings. The ClinGen AWG is working with the ACMG Secondary Findings Committee to update future iterations of their secondary findings list.
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