ArticleClinical genetics2018
Patient actions and reactions after receiving negative results from expanded carrier screening.
Article in Clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.European journal of human genetics : EJHG · 2022Pooled it
- Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result.European journal of human genetics : EJHG · 2026Article
- Knowledge, acceptance, and willingness to pay for expanded carrier screening among obstetric patients in China: Implications for genetic counseling practice.Journal of genetic counseling · 2026Article
- Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study.Journal of genetic counseling · 2025Article
- How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.Personalized medicine · 2025Article
- Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.Journal of community genetics · 2024Article
- Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.Journal of assisted reproduction and genetics · 2024Article
- Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.European journal of human genetics : EJHG · 2023Article
- Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.Journal of personalized medicine · 2022Article
- Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.European journal of human genetics : EJHG · 2021Article
- First French study relative to preconception genetic testing: 1500 general population participants' opinion.Orphanet journal of rare diseases · 2021Article
- Genetic Counseling, Personalized Medicine, and Precision Health.Cold Spring Harbor perspectives in medicine · 2020Review
- The evolving landscape of expanded carrier screening: challenges and opportunities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.Health affairs (Project Hope) · 2018Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
With the expansion of carrier screening to general preconception and prenatal patient populations, most patients will receive negative results, which we define as indicating <25% risk of having a child with a genetic condition. Because there is limited experience with expanded carrier screening, it is important to understand how receiving negative results affects patients, especially as providers, payers, and policymakers consider whether to offer it. In this mixed-methods study, we asked preconception patients enrolled in the NextGen study about their expectations and experiences receiving negative expanded carrier screening results. Participants completed surveys at study enrollment (n = 110 women, 51 male partners), after receiving carrier results (n = 100 women, 38 male partners), after receiving secondary findings (n = 98 women, 36 male partners), and 6 months after receiving results (n = 95 women, 28 male partners). We also interviewed a subset of participants 12 to 24 months after receiving results (n = 24 women, 12 male partners). We found minimal negative emotional impact and privacy concerns, increased confidence in reproductive plans, and few changes to health behaviors, although some patients made health decisions based on misunderstandings of their results. These findings suggest that expanded carrier screening causes minimal psychosocial harms, but systems are needed to reduce the risk of misinterpreting results.
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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.