Abstract
BackgroundCarrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options. Expanded carrier screening (ECS), which provides the opportunity for multiple conditions to be screened in one test, offers a more cost-effective and comprehensive option than screening for single disorders. However, implementation of ECS at a population level would have implications for genetic counseling practice.MethodsWe conducted semi-structured interviews with sixteen European clinical and molecular geneticists with expertise in carrier screening to explore their views on the implementation of ECS in the clinical setting.ResultsUsing inductive content analysis, we identified content categories relevant to the pre- and post-test settings. Participants believed ECS would ideally be targeted at couples before pregnancy. There was some disagreement regarding the acceptability of performing ECS in individuals, with several participants actively opposing individual-based screening. In addition, participants discussed the importance of ensuring informed and voluntary participation in ECS, recommending measures to minimize external pressure on prospective parents to undergo testing. A need for adequate counseling to foster informed, autonomous reproductive decision-making and provide support for couples found to be at risk was emphasized.ConclusionsPractical challenges in optimizing pre-test education and post-test counseling should not be underestimated and they should be carefully addressed before implementing ECS in the clinical setting.
Highlights
Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options
We interviewed sixteen geneticists based in eight European countries
To ensure that prospective parents understand the complex information pertaining to Expanded carrier screening (ECS), pre-test information can be provided through patient-centered education aids, videos and computer-based interactive tools
Summary
Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options. Carrier screening aims to identify couples at risk of having a child affected with a monogenic (autosomal or X-lined) recessive disorder. Both members of an at-risk couple are usually unaffected carriers of a single faulty copy of the gene associated with the same disorder, while in X-linked disorders, only the female partner is a carrier. Screening for upwards of a hundred recessive disorders in a single test, ECS has the potential to detect more carrier couples at risk of having an affected child in the general population. Recent studies have shown that members of the general public in Europe are interested in ECS [10, 11] and the demand for and uptake of ECS tests is likely to increase in many European countries in the near future
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