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

GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?
GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?
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.
1018-4813
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Birnie, Erwin
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Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
Abbott, Kristin M.
d5be9693-ab63-438d-b782-3c8b29f282d0
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Berger, Marjolein Y.
8766e19c-0565-4e2d-a21e-fa598d898333
Verkerk, Marian A.
6830316c-bc73-4e5f-8a46-de7a2f1f8fdf
Van Langen, Irene M.
bcc17f78-800f-4deb-ac58-7c7e2f408bc7
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Birnie, Erwin
dad5871f-46ff-4765-9c3f-b2d89aa71a31
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
Abbott, Kristin M.
d5be9693-ab63-438d-b782-3c8b29f282d0
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Berger, Marjolein Y.
8766e19c-0565-4e2d-a21e-fa598d898333
Verkerk, Marian A.
6830316c-bc73-4e5f-8a46-de7a2f1f8fdf
Van Langen, Irene M.
bcc17f78-800f-4deb-ac58-7c7e2f408bc7
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6

Schuurmans, Juliette, Birnie, Erwin, Ranchor, Adelita V., Abbott, Kristin M., Fenwick, Angela, Lucassen, Anneke, Berger, Marjolein Y., Verkerk, Marian A., Van Langen, Irene M. and Plantinga, Mirjam (2019) GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? European Journal of Human Genetics. (doi:10.1038/s41431-019-0516-0).

Record type: Article

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.

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More information

Accepted/In Press date: 10 September 2019
Published date: 30 September 2019

Identifiers

Local EPrints ID: 434934
URI: http://eprints.soton.ac.uk/id/eprint/434934
ISSN: 1018-4813
PURE UUID: 564830c6-97a1-4522-9e7d-a34c5e11ab7b
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 16 Oct 2019 16:30
Last modified: 26 Nov 2021 02:45

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Contributors

Author: Juliette Schuurmans
Author: Erwin Birnie
Author: Adelita V. Ranchor
Author: Kristin M. Abbott
Author: Angela Fenwick
Author: Anneke Lucassen ORCID iD
Author: Marjolein Y. Berger
Author: Marian A. Verkerk
Author: Irene M. Van Langen
Author: Mirjam Plantinga

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