Publication

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

Schuurmans, J., Birnie, E., Ranchor, A., Abbott, K. M., Fenwick, A., Lucassen, A., Berger, M. Y., Verkerk, M., van Langen, I. M. & Plantinga, M., Feb-2020, In : EJHG. 28, 2, p. 182-192 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Schuurmans, J., Birnie, E., Ranchor, A., Abbott, K. M., Fenwick, A., Lucassen, A., ... Plantinga, M. (2020). GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? EJHG, 28(2), 182-192. https://doi.org/10.1038/s41431-019-0516-0

Author

Schuurmans, Juliette ; Birnie, Erwin ; Ranchor, Adelita ; Abbott, Kristin M. ; Fenwick, Angela ; Lucassen, Anneke ; Berger, Marjolein Y. ; Verkerk, Marian ; van Langen, Irene M. ; Plantinga, Mirjam. / GP-provided couple-based expanded preconception carrier screening in the Dutch general population : who accepts the test-offer and why?. In: EJHG. 2020 ; Vol. 28, No. 2. pp. 182-192.

Harvard

Schuurmans, J, Birnie, E, Ranchor, A, Abbott, KM, Fenwick, A, Lucassen, A, Berger, MY, Verkerk, M, van Langen, IM & Plantinga, M 2020, 'GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?', EJHG, vol. 28, no. 2, pp. 182-192. https://doi.org/10.1038/s41431-019-0516-0

Standard

GP-provided couple-based expanded preconception carrier screening in the Dutch general population : who accepts the test-offer and why? / Schuurmans, Juliette; Birnie, Erwin; Ranchor, Adelita; Abbott, Kristin M.; Fenwick, Angela; Lucassen, Anneke; Berger, Marjolein Y.; Verkerk, Marian; van Langen, Irene M.; Plantinga, Mirjam.

In: EJHG, Vol. 28, No. 2, 02.2020, p. 182-192.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Schuurmans J, Birnie E, Ranchor A, Abbott KM, Fenwick A, Lucassen A et al. GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? EJHG. 2020 Feb;28(2):182-192. https://doi.org/10.1038/s41431-019-0516-0


BibTeX

@article{3f5f9f70375949ad8a2a7a490d0fa7f3,
title = "GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?",
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.",
keywords = "PARTICIPATION, DETERMINES",
author = "Juliette Schuurmans and Erwin Birnie and Adelita Ranchor and Abbott, {Kristin M.} and Angela Fenwick and Anneke Lucassen and Berger, {Marjolein Y.} and Marian Verkerk and {van Langen}, {Irene M.} and Mirjam Plantinga",
year = "2020",
month = "2",
doi = "10.1038/s41431-019-0516-0",
language = "English",
volume = "28",
pages = "182--192",
journal = "EJHG",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "2",

}

RIS

TY - JOUR

T1 - GP-provided couple-based expanded preconception carrier screening in the Dutch general population

T2 - who accepts the test-offer and why?

AU - Schuurmans, Juliette

AU - Birnie, Erwin

AU - Ranchor, Adelita

AU - Abbott, Kristin M.

AU - Fenwick, Angela

AU - Lucassen, Anneke

AU - Berger, Marjolein Y.

AU - Verkerk, Marian

AU - van Langen, Irene M.

AU - Plantinga, Mirjam

PY - 2020/2

Y1 - 2020/2

N2 - 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.

AB - 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.

KW - PARTICIPATION

KW - DETERMINES

U2 - 10.1038/s41431-019-0516-0

DO - 10.1038/s41431-019-0516-0

M3 - Article

VL - 28

SP - 182

EP - 192

JO - EJHG

JF - EJHG

SN - 1018-4813

IS - 2

ER -

ID: 99110900