ArticleEuropean journal of human genetics : EJHG2016
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed.
- 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
- Review
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Expanded carrier screening for inherited genetic disease using exome and genome sequencing.Journal of genetic counseling · 2025Article
- Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.European journal of human genetics : EJHG · 2025Article
- Women's preferences for genetic screening in routine care: A qualitative study.Patient education and counseling · 2025Article
- Primary care professionals' views on population-based expanded carrier screening: an online focus group study.Family practice · 2024Article
- Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age.PEC innovation · 2023Article
- Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process.European journal of human genetics : EJHG · 2023Article
- Preconception Expanded Carrier Screening: A Discourse Analysis of Dutch Webpages.Healthcare (Basel, Switzerland) · 2023Article
- Arguments for and against the whole-genome sequencing of newborns.American journal of translational research · 2023Review
- Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.Prenatal diagnosis · 2022Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.Prenatal diagnosis · 2022Article
- Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.Medicina (Kaunas, Lithuania) · 2022Review
- Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders.PloS one · 2022Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of [euro ]75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.
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