ArticleAmerican journal of medical genetics. Part A2016
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Article in American journal of medical genetics. Part A, 2016. 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
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
21 citing papers in PubMed, 37 citations in OpenAlex.
- Considering seriousness in preconception carrier screening: a framework to support policy deliberation.Journal of community genetics · 2026Review
- Returning aggregate research results to participants: a scoping review of current practices, preferences and challenges.BMJ open · 2025Article
- Towards a patient-centred classification of genetic disease severity.European journal of human genetics : EJHG · 2025Article
- Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.European journal of human genetics : EJHG · 2025Article
- Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?European journal of human genetics : EJHG · 2025Review
- Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.Scientific reports · 2024Article
- Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.Prenatal diagnosis · 2022Article
- Article
- Expanded universal carrier screening and its implementation within a publicly funded healthcare service.Journal of community genetics · 2020Review
- Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening.Molecular genetics & genomic medicine · 2019Article
- The evolving landscape of expanded carrier screening: challenges and opportunities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings.Molecular genetics & genomic medicine · 2018Article
- How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening.Molecular genetics & genomic medicine · 2018Article
- Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Molecular genetics & genomic medicine · 2018Article
- Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.Health affairs (Project Hope) · 2018Article
- Clinician-Stakeholders' Perspectives on Using Patient Portals to Return Lynch Syndrome Screening Results.Journal of genetic counseling · 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
- Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Breaking the Sounds of Silence: Respecting People With Disabilities and Reproductive Decision Making.The American journal of bioethics : AJOB · 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
21 authors at 6 institutions in 1 country.
Funding
Abstract
As genome or exome sequencing (hereafter genome-scale sequencing) becomes more integrated into standard care, carrier testing is an important possible application. Carrier testing using genome-scale sequencing can identify a large number of conditions, but choosing which conditions/genes to evaluate as well as which results to disclose can be complicated. Carrier testing generally occurs in the context of reproductive decision-making and involves patient values in a way that other types of genetic testing may not. The Kaiser Permanente Clinical Sequencing Exploratory Research program is conducting a randomized clinical trial of preconception carrier testing that allows participants to select their preferences for results from among broad descriptive categories rather than selecting individual conditions. This paper describes (1) the criteria developed by the research team, the return of results committee (RORC), and stakeholders for defining the categories; (2) the process of refining the categories based on input from patient focus groups and validation through a patient survey; and (3) how the RORC then assigned specific gene-condition pairs to taxonomy categories being piloted in the trial. The development of four categories (serious, moderate/mild, unpredictable, late onset) for sharing results allows patients to select results based on their values without separately deciding their interest in knowing their carrier status for hundreds of conditions. A fifth category, lifespan limiting, was always shared. The lessons learned may be applicable in other results disclosure situations, such as incidental findings.
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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.