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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...
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/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. |
format | Online Article Text |
id | pubmed-4717216 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
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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