ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 32 citations in OpenAlex.
- Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.PloS one · 2018Trial
- Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.Contemporary clinical trials · 2017Trial
- Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.Scientific reports · 2024Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population.F&S reports · 2023Article
- Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.Human genetics · 2021Article
- Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Article
- Carrier screening for recessive disorders.Nature reviews. Genetics · 2019Review
- Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Molecular genetics & genomic medicine · 2018Article
- Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings.Molecular genetics & genomic medicine · 2018Article
- Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders.Journal of community genetics · 2018Article
- Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium.Journal of genetic counseling · 2018Article
- Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing.Journal of genetic counseling · 2018Article
- Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.American journal of human genetics · 2018Article
- Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.Health affairs (Project Hope) · 2018Article
- Patient actions and reactions after receiving negative results from expanded carrier screening.Clinical genetics · 2018Article
- Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.American journal of medical genetics. Part A · 2018Article
- Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.Molecular genetics & genomic medicine · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 1 country.
Funding
Abstract
purposeWe investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both clinicians and patients understand the possible range of findings is needed to respect patient preferences by ensuring that information about only the desired types of genetic conditions are provided to a given patient.
methodsWe categorized gene-condition pairs into groups using a previously developed taxonomy of genetic conditions. Patients could elect to receive results from these categories. A Return of Results Committee (RORC) developed inclusion and exclusion criteria for each category.
resultsTo date, the RORC has categorized 728 gene-condition pairs: 177 are categorized as life span-limiting, 406 are categorized as serious, 93 are categorized as mild, 41 are categorized as unpredictable, and 11 are categorized as adult-onset. An additional 64 gene-condition pairs were excluded from reporting to patients or put on a watch list, generally because evidence that a gene and condition were associated was limited.
conclusionCategorization of gene-condition pairs using our taxonomy simplifies communication regarding patient preferences for carrier information from a genomic test.Genet Med advance online publication 12 January 2017.
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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.