Abstract
Next generation sequencing has enabled fast and relatively inexpensive expanded carrier screening (ECS) that can inform couples’ reproductive decisions before conception and during pregnancy. We previously showed that a couple-based approach to ECS for autosomal recessive (AR) conditions was acceptable and feasible for both health care professionals and the non-pregnant target population in the Netherlands. This paper describes the acceptance of this free test-offer of preconception ECS for 50 severe conditions, the characteristics of test-offer acceptors and decliners, their views on couple-based ECS and reasons for accepting or declining the test-offer. We used a survey that included self-rated health, intention to accept the test-offer, barriers to test-participation and arguments for and against test-participation. Fifteen percent of the expected target population—couples potentially planning a pregnancy—attended pre-test counselling and 90% of these couples proceeded with testing. Test-offer acceptors and decliners differed in their reproductive characteristics (e.g. how soon they wanted to conceive), educational level and stated barriers to test-participation. Sparing a child a life with a severe genetic condition was the most important reason to accept ECS. The most important reason for declining was that the test-result would not affect participants’ reproductive decisions. Our results demonstrate that previously uninformed couples of reproductive age, albeit a selective part, were interested in and chose to have couple-based ECS. Alleviating practical barriers, which prevented some interested couples from participating, is recommended before nationwide implementation.
Highlights
Generation sequencing allows fast and relatively inexpensive simultaneous testing for carrier status of many genetic conditions called expanded carrier screening (ECS) [1]
This paper presents the initial interest from women 18–40 years and their partners of the first offer of cost-free couple-based ECS by trained (Dutch) general practitioner (GP) to couples from the general population and identifies their characteristics, views and barriers in terms of access and acceptance
Our results demonstrate that ~3% of all women approached and 15% of the estimated target population attended pre-test counselling with their GP, that is, were test-offer acceptors, of whom 90% proceeded with the test
Summary
Generation sequencing allows fast and relatively inexpensive simultaneous testing for carrier status of many (rare) genetic conditions called expanded carrier screening (ECS) [1]. As a study by Chokoshvili et al demonstrates, currently available tests vary greatly in composition of the test-panel [2] and may consist of autosomal recessive (AR), X-linked or in some cases even autosomal dominant conditions. The Genetics Department of the University Medical Centre Groningen (UMCG) in the Netherlands developed and validated a population-based ECS test for a limited set of 50 severe early-onset AR conditions for which no curative treatment is available. Based on the outcome of an international expert meeting, and supported by recent guidelines [3, 4], we developed this gene-panel to evaluate its potential for ECS implementation within the public
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