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Feasibility of couple-based expanded carrier screening offered by general practitioners

Feasibility of couple-based expanded carrier screening offered by general practitioners
Feasibility of couple-based expanded carrier screening offered by general practitioners
Expanded carrier screening (ECS) aims to inform couples’ reproductive choice, preferably before conception. As part of an implementation study in which trained general practitioners (GPs) offered a population-based ECS couple-test, we evaluated the feasibility of the test-offer and degree of participant informed choice (IC). Trained GPs from nine practices in the northern Netherlands invited 4295 female patients aged 18–40 to take part in couple-based ECS. Inclusion criteria were having a male partner, planning for children and not being pregnant. We evaluated the feasibility of the organizational aspects, GP competence and the content of the pre-test counselling. Participant satisfaction, evaluation of pre-test counselling and degree of IC were measured using a longitudinal survey. We explored GP experiences and their views on future implementation through semi-structured interviews. 130 consultations took place. All participating GPs were assessed by genetic professionals to be competent to conduct pre-test counselling. Most (63/108 (58%)) consultations took place within the planned 20 min (median 20, IQR 18–28). GPs considered couples’ prior knowledge level an important determinant of consultation length. 91% of patients were (very) satisfied with the GP counselling. After pre-test counselling, 231/237(97%) participants had sufficient knowledge and 206/231(88%) had a positive attitude and proceeded with testing. Our pilot demonstrates that offering couple-based ECS through trained and motivated GPs is feasible. Future large-scale implementation requires a well-informed general public and a discussion about appropriate reimbursement for GPs and health care coverage for couples. Providing (more) test information pre-appointment may help reduce average consultation time.
1018-4813
1-10
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Birnie, Erwin
dad5871f-46ff-4765-9c3f-b2d89aa71a31
van den Heuvel, L.M.
57d735fc-413b-409c-a839-62e33706a4fe
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
van der Kolk, D.M.
6c46742b-279a-4999-b651-2727a29f634c
abbott, K.M.
ad87daf8-c497-45ba-ac1c-e51253c922ea
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
Diemers, A.D.
34c5097f-a568-43c9-9a83-e35d8cf29a96
Van Langen, Irene M.
bcc17f78-800f-4deb-ac58-7c7e2f408bc7
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Birnie, Erwin
dad5871f-46ff-4765-9c3f-b2d89aa71a31
van den Heuvel, L.M.
57d735fc-413b-409c-a839-62e33706a4fe
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
van der Kolk, D.M.
6c46742b-279a-4999-b651-2727a29f634c
abbott, K.M.
ad87daf8-c497-45ba-ac1c-e51253c922ea
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
Diemers, A.D.
34c5097f-a568-43c9-9a83-e35d8cf29a96
Van Langen, Irene M.
bcc17f78-800f-4deb-ac58-7c7e2f408bc7

Schuurmans, Juliette, Birnie, Erwin, van den Heuvel, L.M., Plantinga, Mirjam, Lucassen, Anneke, van der Kolk, D.M., abbott, K.M., Ranchor, Adelita V., Diemers, A.D. and Van Langen, Irene M. (2019) Feasibility of couple-based expanded carrier screening offered by general practitioners. European Journal of Human Genetics, 1-10. (doi:10.1038/s41431-019-0351-3).

Record type: Article

Abstract

Expanded carrier screening (ECS) aims to inform couples’ reproductive choice, preferably before conception. As part of an implementation study in which trained general practitioners (GPs) offered a population-based ECS couple-test, we evaluated the feasibility of the test-offer and degree of participant informed choice (IC). Trained GPs from nine practices in the northern Netherlands invited 4295 female patients aged 18–40 to take part in couple-based ECS. Inclusion criteria were having a male partner, planning for children and not being pregnant. We evaluated the feasibility of the organizational aspects, GP competence and the content of the pre-test counselling. Participant satisfaction, evaluation of pre-test counselling and degree of IC were measured using a longitudinal survey. We explored GP experiences and their views on future implementation through semi-structured interviews. 130 consultations took place. All participating GPs were assessed by genetic professionals to be competent to conduct pre-test counselling. Most (63/108 (58%)) consultations took place within the planned 20 min (median 20, IQR 18–28). GPs considered couples’ prior knowledge level an important determinant of consultation length. 91% of patients were (very) satisfied with the GP counselling. After pre-test counselling, 231/237(97%) participants had sufficient knowledge and 206/231(88%) had a positive attitude and proceeded with testing. Our pilot demonstrates that offering couple-based ECS through trained and motivated GPs is feasible. Future large-scale implementation requires a well-informed general public and a discussion about appropriate reimbursement for GPs and health care coverage for couples. Providing (more) test information pre-appointment may help reduce average consultation time.

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More information

Accepted/In Press date: 5 January 2019
e-pub ahead of print date: 11 February 2019

Identifiers

Local EPrints ID: 428371
URI: http://eprints.soton.ac.uk/id/eprint/428371
ISSN: 1018-4813
PURE UUID: ece6446d-5056-4a87-b7ab-186b4e830968
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 22 Feb 2019 17:30
Last modified: 26 Nov 2021 02:45

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Contributors

Author: Juliette Schuurmans
Author: Erwin Birnie
Author: L.M. van den Heuvel
Author: Mirjam Plantinga
Author: Anneke Lucassen ORCID iD
Author: D.M. van der Kolk
Author: K.M. abbott
Author: Adelita V. Ranchor
Author: A.D. Diemers
Author: Irene M. Van Langen

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