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Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases
With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of [euro ]75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.
1018-4813
1417–1423
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Birnie, Erwin
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Abbott, Kristin M.
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Lucassen, Anneke M.
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Schuurmans, Juliette
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Sinke, Richard J.
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Kaplan, Seyma
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Verkerk, Marian A.
6830316c-bc73-4e5f-8a46-de7a2f1f8fdf
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
van Langen, Irene
16be3721-7eec-47a2-b749-d060273f8914
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Birnie, Erwin
dad5871f-46ff-4765-9c3f-b2d89aa71a31
Abbott, Kristin M.
ff2eec6d-ec56-4fa3-a1f4-fd1649348917
Lucassen, Anneke M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Sinke, Richard J.
fd2f95f7-2969-4e60-908e-f770b83a4d4e
Kaplan, Seyma
7b7ad37c-b7f2-4f52-8f34-1ca62a208be9
Verkerk, Marian A.
6830316c-bc73-4e5f-8a46-de7a2f1f8fdf
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
van Langen, Irene
16be3721-7eec-47a2-b749-d060273f8914

Plantinga, Mirjam, Birnie, Erwin, Abbott, Kristin M., Lucassen, Anneke M., Schuurmans, Juliette, Sinke, Richard J., Kaplan, Seyma, Verkerk, Marian A., Ranchor, Adelita V. and van Langen, Irene (2016) Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. European Journal of Human Genetics, 24 (10), 1417–1423. (doi:10.1038/ejhg.2016.43). (PMID:27165008)

Record type: Article

Abstract

With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of [euro ]75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.

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More information

Accepted/In Press date: 7 April 2016
e-pub ahead of print date: 11 May 2016
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 394646
URI: http://eprints.soton.ac.uk/id/eprint/394646
ISSN: 1018-4813
PURE UUID: dd001c61-2ad9-48f7-9984-e0e1653b767a
ORCID for Anneke M. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 23 May 2016 09:06
Last modified: 18 Feb 2021 16:58

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