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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027688/ https://www.ncbi.nlm.nih.gov/pubmed/27165008 http://dx.doi.org/10.1038/ejhg.2016.43 |
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author | Plantinga, Mirjam Birnie, Erwin Abbott, Kristin M Sinke, Richard J Lucassen, Anneke M Schuurmans, Juliette Kaplan, Seyma Verkerk, Marian A Ranchor, Adelita V van Langen, Irene M |
author_facet | Plantinga, Mirjam Birnie, Erwin Abbott, Kristin M Sinke, Richard J Lucassen, Anneke M Schuurmans, Juliette Kaplan, Seyma Verkerk, Marian A Ranchor, Adelita V van Langen, Irene M |
author_sort | Plantinga, Mirjam |
collection | PubMed |
description | 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 €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. |
format | Online Article Text |
id | pubmed-5027688 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-50276882016-10-01 Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases Plantinga, Mirjam Birnie, Erwin Abbott, Kristin M Sinke, Richard J Lucassen, Anneke M Schuurmans, Juliette Kaplan, Seyma Verkerk, Marian A Ranchor, Adelita V van Langen, Irene M Eur J Hum Genet Article 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 €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. Nature Publishing Group 2016-10 2016-05-11 /pmc/articles/PMC5027688/ /pubmed/27165008 http://dx.doi.org/10.1038/ejhg.2016.43 Text en Copyright © 2016 Macmillan Publishers Limited http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
spellingShingle | Article Plantinga, Mirjam Birnie, Erwin Abbott, Kristin M Sinke, Richard J Lucassen, Anneke M Schuurmans, Juliette Kaplan, Seyma Verkerk, Marian A Ranchor, Adelita V van Langen, Irene M Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases |
title | Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases |
title_full | Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases |
title_fullStr | Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases |
title_full_unstemmed | Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases |
title_short | Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases |
title_sort | population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027688/ https://www.ncbi.nlm.nih.gov/pubmed/27165008 http://dx.doi.org/10.1038/ejhg.2016.43 |
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