Trial reportContemporary clinical trials2017
Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.
Trial report in Contemporary clinical trials, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses 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
20 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2021Pooled it
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2018Pooled it
- Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.PloS one · 2018Trial
- Elective genomic sequencing for adults in research, clinical and commercial contexts.BMC medical genomics · 2026Article
- Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026Article
- Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.Prenatal diagnosis · 2022Article
- Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System.JAMA network open · 2022Article
- Preconception Counseling: Identifying Ways to Improve Services.AJP reports · 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
- First French study relative to preconception genetic testing: 1500 general population participants' opinion.Orphanet journal of rare diseases · 2021Article
- The future of cystic fibrosis care: a global perspective.The Lancet. Respiratory medicine · 2020Review
- Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants.NPJ genomic medicine · 2020Article
- Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium.Genome medicine · 2019Article
- Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Molecular genetics & genomic medicine · 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
- The NextGen Study: patient motivation for participation in genome sequencing for carrier status.Molecular genetics & genomic medicine · 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
11 authors.
Funding
Abstract
Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1-2year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health.
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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.