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Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions

Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions
Purpose: the aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reproductive genetic screening in routine care requires assessment of benefits and harms. We examined the psychological outcomes of couple-based ECS for 50 autosomal recessive (AR) conditions provided by general practitioners (GPs) to couples from the Dutch general population.

Methods: Dutch GPs invited 4,295 women aged 18-40. We examined anxiety (State-Trait Anxiety Inventory, STAI-6), worry, decisional conflict (DCS) over time in participants declining GP counseling or attending GP counseling with/without testing.

Results: one hundred ninety couples participated; 130 attended counseling, of whom 117 proceeded with testing. No carrier couples were identified. Before counseling, worry (median 6.0) and anxiety (mean 30-34) were low and lower than the population reference (36.4), although some individuals reported increased anxiety or worry. At follow-up, test acceptors reported less anxiety than test decliners (mean 29 vs. 35); differences in anxiety after testing compared to before counseling were not meaningful. Most participants (90%) were satisfied with their decision (not) to undergo testing.

Conclusion: some individuals reported temporarily clinically relevant distress. Overall, the psychological outcomes are acceptable and no barrier to population-wide implementation.
1098-3600
1761-1768
Birnie, Erwin
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Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Plantinga, Mirjam
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Abbott, K.M.
ad87daf8-c497-45ba-ac1c-e51253c922ea
Fenwick, Angela J
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Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Berger, Marjolein Y.
8766e19c-0565-4e2d-a21e-fa598d898333
Van Langen, Irene M.
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Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
Birnie, Erwin
dad5871f-46ff-4765-9c3f-b2d89aa71a31
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Abbott, K.M.
ad87daf8-c497-45ba-ac1c-e51253c922ea
Fenwick, Angela J
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Berger, Marjolein Y.
8766e19c-0565-4e2d-a21e-fa598d898333
Van Langen, Irene M.
bcc17f78-800f-4deb-ac58-7c7e2f408bc7
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91

Birnie, Erwin, Schuurmans, Juliette, Plantinga, Mirjam, Abbott, K.M., Fenwick, Angela J, Lucassen, Anneke, Berger, Marjolein Y., Van Langen, Irene M. and Ranchor, Adelita V. (2021) Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions. Genetics in Medicine, 23 (9), 1761-1768. (doi:10.1038/s41436-021-01199-6).

Record type: Article

Abstract

Purpose: the aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reproductive genetic screening in routine care requires assessment of benefits and harms. We examined the psychological outcomes of couple-based ECS for 50 autosomal recessive (AR) conditions provided by general practitioners (GPs) to couples from the Dutch general population.

Methods: Dutch GPs invited 4,295 women aged 18-40. We examined anxiety (State-Trait Anxiety Inventory, STAI-6), worry, decisional conflict (DCS) over time in participants declining GP counseling or attending GP counseling with/without testing.

Results: one hundred ninety couples participated; 130 attended counseling, of whom 117 proceeded with testing. No carrier couples were identified. Before counseling, worry (median 6.0) and anxiety (mean 30-34) were low and lower than the population reference (36.4), although some individuals reported increased anxiety or worry. At follow-up, test acceptors reported less anxiety than test decliners (mean 29 vs. 35); differences in anxiety after testing compared to before counseling were not meaningful. Most participants (90%) were satisfied with their decision (not) to undergo testing.

Conclusion: some individuals reported temporarily clinically relevant distress. Overall, the psychological outcomes are acceptable and no barrier to population-wide implementation.

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e-pub ahead of print date: 10 June 2021
Published date: 10 June 2021

Identifiers

Local EPrints ID: 450230
URI: http://eprints.soton.ac.uk/id/eprint/450230
ISSN: 1098-3600
PURE UUID: 4461d6ef-b227-4493-9744-4db289a41de7
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 16 Jul 2021 16:34
Last modified: 26 Nov 2021 02:45

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Contributors

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

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