ArticleAmerican journal of medical genetics. Part A2016
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
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 16 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.
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Who cites it
16 citing papers in PubMed.
- Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.Journal of genetic counseling · 2017Trial
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Towards a patient-centred classification of genetic disease severity.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
- Article
- 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
- 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
- The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy.Health expectations : an international journal of public participation in health care and health policy · 2018Article
- Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy.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
- Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.European journal of human genetics : EJHG · 2016Article
- The impact of genomics on health outcomes, quality, and safety.Nursing management · 2016Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical methods of simplifying decisions about the conditions for which patients want to be screened. One method to simplify decision making is to generate a taxonomy based on expert judgment. However, expert perceptions of condition attributes used to classify these conditions may differ from those used by patients. To understand whether expert and patient perceptions differ, we asked women who had received preconception genetic carrier screening in the last 3 years to fill out a survey to rate the attributes (predictability, controllability, visibility, and severity) of several autosomal recessive or X-linked genetic conditions. These conditions were classified into one of five taxonomy categories developed by subject experts (significantly shortened lifespan, serious medical problems, mild medical problems, unpredictable medical outcomes, and adult-onset conditions). A total of 193 women provided 739 usable ratings across 20 conditions. The mean ratings and correlations demonstrated that participants made distinctions across both attributes and categories. Aggregated mean attribute ratings across categories demonstrated logical consistency between the key features of each attribute and category, although participants perceived little difference between the mild and serious categories. This study provides empirical evidence for the validity of our proposed taxonomy, which will simplify patient decisions for results they would like to receive from preconception carrier screening via genome sequencing.
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Registered trials
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