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Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases, the question arises whether this population pref...

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Autores principales: Holtkamp, Kim C A, van Maarle, Merel C, Schouten, Maria J E, Dondorp, Wybo J, Lakeman, Phillis, Henneman, Lidewij
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717216/
https://www.ncbi.nlm.nih.gov/pubmed/25966636
http://dx.doi.org/10.1038/ejhg.2015.97
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author Holtkamp, Kim C A
van Maarle, Merel C
Schouten, Maria J E
Dondorp, Wybo J
Lakeman, Phillis
Henneman, Lidewij
author_facet Holtkamp, Kim C A
van Maarle, Merel C
Schouten, Maria J E
Dondorp, Wybo J
Lakeman, Phillis
Henneman, Lidewij
author_sort Holtkamp, Kim C A
collection PubMed
description Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases, the question arises whether this population prefers a limited ancestry-based offer or a pan-ethnic expanded carrier screening panel that goes beyond the diseases that are frequent in their own population, and is offered regardless of ancestry. An online questionnaire was completed by 145 individuals from the Dutch Jewish community (≥18 years) between April and July 2014. In total, 64.8% were aware of the existence of ancestry-based carrier screening, and respondents were generally positive about screening. About half (53.8%) preferred pan-ethnic expanded carrier screening, whereas 42.8% preferred ancestry-based screening. Reasons for preferring pan-ethnic screening included ‘everyone has a right to be tested', ‘fear of stigmatization when offering ancestry-based panels', and ‘difficulties with identifying risk owing to mixed backgrounds'. ‘Preventing high healthcare costs' was the most important reason against pan-ethnic carrier screening among those in favor of an ancestry-based panel. In conclusion, these findings show that people from the Dutch Jewish community have a positive attitude regarding carrier screening in their community for a wide range of diseases. As costs of expanded carrier screening panels are most likely to drop in the near future, it is expected that these panels will receive more support in the future.
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spelling pubmed-47172162016-01-31 Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening? Holtkamp, Kim C A van Maarle, Merel C Schouten, Maria J E Dondorp, Wybo J Lakeman, Phillis Henneman, Lidewij Eur J Hum Genet Article Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases, the question arises whether this population prefers a limited ancestry-based offer or a pan-ethnic expanded carrier screening panel that goes beyond the diseases that are frequent in their own population, and is offered regardless of ancestry. An online questionnaire was completed by 145 individuals from the Dutch Jewish community (≥18 years) between April and July 2014. In total, 64.8% were aware of the existence of ancestry-based carrier screening, and respondents were generally positive about screening. About half (53.8%) preferred pan-ethnic expanded carrier screening, whereas 42.8% preferred ancestry-based screening. Reasons for preferring pan-ethnic screening included ‘everyone has a right to be tested', ‘fear of stigmatization when offering ancestry-based panels', and ‘difficulties with identifying risk owing to mixed backgrounds'. ‘Preventing high healthcare costs' was the most important reason against pan-ethnic carrier screening among those in favor of an ancestry-based panel. In conclusion, these findings show that people from the Dutch Jewish community have a positive attitude regarding carrier screening in their community for a wide range of diseases. As costs of expanded carrier screening panels are most likely to drop in the near future, it is expected that these panels will receive more support in the future. Nature Publishing Group 2016-02 2015-05-13 /pmc/articles/PMC4717216/ /pubmed/25966636 http://dx.doi.org/10.1038/ejhg.2015.97 Text en Copyright © 2016 Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 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/4.0/
spellingShingle Article
Holtkamp, Kim C A
van Maarle, Merel C
Schouten, Maria J E
Dondorp, Wybo J
Lakeman, Phillis
Henneman, Lidewij
Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
title Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
title_full Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
title_fullStr Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
title_full_unstemmed Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
title_short Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
title_sort do people from the jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717216/
https://www.ncbi.nlm.nih.gov/pubmed/25966636
http://dx.doi.org/10.1038/ejhg.2015.97
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