ArticleAmerican journal of medical genetics. Part A2013
Practices and policies of clinical exome sequencing providers: analysis and implications.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
43 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Identifying and Classifying Tools for Health Policy Ethics Review: A Systematic Search and Review.Health care analysis : HCA : journal of health philosophy and policy · 2021Pooled it
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.Frontiers in pharmacology · 2024Article
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.Human genomics · 2023Article
- Views on genomic research result delivery methods and informed consent: a review.Personalized medicine · 2021Review
- Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.BMC medical genomics · 2021Article
- Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.Personalized medicine · 2019Article
- Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- [Exome diagnostics in neurology].Der Nervenarzt · 2019Review
- Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.European journal of human genetics : EJHG · 2018Article
- Measuring coverage and accuracy of whole-exome sequencing in clinical context.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2018Review
- Readability of informed consent forms for whole-exome and whole-genome sequencing.Journal of community genetics · 2018Article
- Variation among Consent Forms for Clinical Whole Exome Sequencing.Journal of genetic counseling · 2018Article
- Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age.Journal of genetic counseling · 2017Article
- Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators.Journal of clinical and translational science · 2017Article
- My Identical Twin Sequenced our Genome.Journal of genetic counseling · 2017Article
- Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional approaches to diagnostic genetic testing. Consequently, use of ES/WGS in clinical settings is rapidly becoming commonplace. Yet there are myriad moral, ethical, and perhaps legal implications attached to the use of ES and health care professionals and institutions will need to consider these implications in the context of the varied practices and policies of ES service providers. We developed "core elements" of content and procedures for informed consent, data sharing, and results management and a quantitative scale to assess the extent to which research protocols met the standards established by these core elements. We then used these tools to evaluate the practices and policies of each of the 6 U.S. CLIA-certified labs offering clinical ES. Approaches toward informed consent, data sharing, and results return vary widely among ES providers as do the overall potential merits and disadvantages of each, and more importantly, the balance between the two.
Indexed as
Identifiers
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.