ArticlePediatrics2012
Incidental medical information in whole-exome sequencing.
Article in Pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 37 citations in OpenAlex.
- Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results.Social science & medicine (1982) · 2020Article
- Ubuntu philosophy and the consensus regarding incidental findings in genomic research: a heuristic approach.Medicine, health care, and philosophy · 2020Article
- A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2018Article
- Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.The Journal of pediatrics · 2017Article
- Genomic decision support needs in pediatric primary care.Journal of the American Medical Informatics Association : JAMIA · 2017Article
- Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing.European journal of human genetics : EJHG · 2016Article
- A Systematic Review of the Management of Incidental Findings in Genomic Research.BEOnline : journal of the West African bioethics training program · 2016Article
- Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2015Review
- Obstacles and opportunities for the future of genomic medicine.Molecular genetics & genomic medicine · 2014Article
- Enhancing the incidental pipeline in genomic sequencing.Molecular syndromology · 2014Article
- Review
- Self-guided management of exome and whole-genome sequencing results: changing the results return model.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- Managing incidental genomic findings: legal obligations of clinicians.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- Genomic sequencing for psychiatric disorders: promise and challenge.The international journal of neuropsychopharmacology · 2013Article
- Clinical genomic database.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2013Article
- Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2013Article
- Ethical and legal implications of whole genome and whole exome sequencing in African populations.BMC medical ethics · 2013Article
- Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.European journal of human genetics : EJHG · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context. We performed whole-exome sequencing on a monozygotic twin pair in which only 1 child was affected with congenital anomalies and applied an institutional review board-approved algorithm to determine what genetic information would be returned. Whole-exome sequencing identified 79525 genetic variants in the twins. Here, we focus on novel variants. After filtering artifacts and excluding known single nucleotide polymorphisms and variants not predicted to be pathogenic, the twins had 32 novel variants in 32 genes that were felt to be likely to be associated with human disease. Eighteen of these novel variants were associated with recessive disease and 18 were associated with dominantly manifesting conditions (variants in some genes were potentially associated with both recessive and dominant conditions), but only 1 variant ultimately met our institutional review board-approved criteria for return of information to the research participants.
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What OpenQuestion holds
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.