Trial reportJournal of genetic counseling2017
Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.
Trial report in Journal of genetic counseling, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis 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
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence and predictors of medical information avoidance: a systematic review and meta-analysis.Annals of behavioral medicine : a publication of the Society of Behavioral Medicine · 2025Pooled it
- Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.PloS one · 2018Trial
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.Journal of assisted reproduction and genetics · 2026Article
- Reasons for refusal of genetic testing in the evaluation of autism spectrum disorder and intellectual developmental disorder with longitudinal follow-up on test completion.Genetics in medicine open · 2026Article
- Patient and health care practitioner experiences and perspectives on expanded carrier screening: A scoping review.Genetics in medicine open · 2026Review
- Perceived utility of genetic carrier screening in a diverse patient population.Journal of genetic counseling · 2025Article
- Should recipient parents have access to gamete donors' raw genomic data? Clinical, legal, and ethical considerations.Journal of assisted reproduction and genetics · 2025Article
- Women's preferences for genetic screening in routine care: A qualitative study.Patient education and counseling · 2025Article
- Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age.PEC innovation · 2023Article
- Preconception Expanded Carrier Screening: A Discourse Analysis of Dutch Webpages.Healthcare (Basel, Switzerland) · 2023Article
- Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.Medicina (Kaunas, Lithuania) · 2022Review
- Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women.Frontiers in genetics · 2022Article
- Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.Journal of community genetics · 2021Article
- Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population.Journal of assisted reproduction and genetics · 2021Article
- Patient-Reported Outcomes and Experiences with Population Genetic Testing Offered Through a Primary Care Network.Genetic testing and molecular biomarkers · 2021Article
- Exploring the use of a Comic for Education about Expanded Carrier Screening among a Diverse Group of Mothers.Journal of communication in healthcare · 2021Article
- Expanded carrier screening: counseling and considerations.Human genetics · 2020Review
- GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?European journal of human genetics : EJHG · 2020Article
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.
Funding
Abstract
Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so. Two thirds of women declined participation. We identified major themes describing reasons these individuals declined to participate; the most common were time limitation, lack of interest, not wanting to know the information, and potential cause of worry or anxiety. Most women eligible for genomic carrier screening indicated that their reasons for opting out were due to logistical issues rather than opposing the rationale for testing. As expanded carrier screening and genomic sequencing become a more routine part of clinical care, it is anticipated there will be variable uptake from individuals for this testing. Thus, the advancement of clinical carrier screening from single genes, to expanded screening panels, to an exome- or genome-wide platform, will require approaches that respect individual choice to receive genetic testing for reproductive risk assessment.
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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.