GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

Juliette Schuurmans*, Erwin Birnie, Adelita Ranchor, Kristin M. Abbott, Angela Fenwick, Anneke Lucassen, Marjolein Y. Berger, Marian Verkerk, Irene M. van Langen, Mirjam Plantinga

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)
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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.

Original languageEnglish
Pages (from-to)182-192
Number of pages11
JournalEJHG
Volume28
Issue number2
Early online date30-Sep-2019
DOIs
Publication statusPublished - Feb-2020

Keywords

  • PARTICIPATION
  • DETERMINES

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