ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
What it found
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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.
The trial behind it
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
13 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- Article
- Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).European journal of human genetics : EJHG · 2024Article
- Australian public perspectives on genomic newborn screening: which conditions should be included?Human genomics · 2024Article
- Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.European journal of human genetics : EJHG · 2022Article
- Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022Review
- From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Paediatric biobanking for health: The ethical, legal, and societal landscape.Frontiers in public health · 2022Review
- Cancer predisposition in pediatric neuro-oncology-practical approaches and ethical considerations.Neuro-oncology practice · 2021Review
- An online compendium of treatable genetic disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2021Article
- Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.International journal of neonatal screening · 2019Article
- Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.BMC medical genomics · 2019Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
purposeWe aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework.
methodsFor 31 disorders on the American College of Medical Genetics and Genomics SF v.2.0 list, World Health Organization screening criteria were applied to assess actionability in childhood.
resultsThe age of onset was variable. We categorized disorders based on the proportion of cases that presented in childhood: rare (n = 6), fewer than half the cases (n = 9), the majority of cases (n = 12), or unclear (n = 4). The age at initiation of intervention was based on the youngest age of onset reported, not evidence of the benefit of early intervention. For 15 disorders, guidelines were supported by a moderate quality of evidence for at least one recommendation. Only tuberous sclerosis complex had recommendations based on high-quality evidence. All others were based on evidence of low or very low quality.
conclusionWe propose that actionability in childhood should be based on the proportion of cases that manifest in childhood and the quality of the evidence supporting intervention recommendations. Ideally, disclosure in childhood would be limited to disorders for which a majority of cases present in childhood and for which interventions are supported by evidence of at least moderate quality (i.e., multiple endocrine neoplasia type 2, retinoblastoma, tuberous sclerosis complex, Marfan syndrome, and Wilson's disease).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.