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The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
The Israeli population genetic screening program for reproductive purposes, is a population-specific screening that includes all known, severe diseases and relatively frequent in a specific population (carrier frequency at or above 1:60 and/or disease frequency at or above 1 in 15,000 live births)....
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912952/ https://www.ncbi.nlm.nih.gov/pubmed/31839005 http://dx.doi.org/10.1186/s13584-019-0345-1 |
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author | Zlotogora, Joël |
author_facet | Zlotogora, Joël |
author_sort | Zlotogora, Joël |
collection | PubMed |
description | The Israeli population genetic screening program for reproductive purposes, is a population-specific screening that includes all known, severe diseases and relatively frequent in a specific population (carrier frequency at or above 1:60 and/or disease frequency at or above 1 in 15,000 live births). The carrier screening program is free of charge and offers testing according to disease frequency in the different groups within the population. The extraordinary technical changes that occurred in the last decade as well as the changes in the type of marriages within the Israeli population necessitate a revision in the basis of the program. The screening should include instead of only the relatively frequent variants, all the variants that were reported among patients causing a severe disease for which the natural history is well known without regard of their frequency. The population-specific screening that determine which variants are included according to the origin of the couple should be abandoned for a general screening including either all the Jewish population or all the Israeli Arab population. |
format | Online Article Text |
id | pubmed-6912952 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-69129522019-12-30 The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? Zlotogora, Joël Isr J Health Policy Res Commentary The Israeli population genetic screening program for reproductive purposes, is a population-specific screening that includes all known, severe diseases and relatively frequent in a specific population (carrier frequency at or above 1:60 and/or disease frequency at or above 1 in 15,000 live births). The carrier screening program is free of charge and offers testing according to disease frequency in the different groups within the population. The extraordinary technical changes that occurred in the last decade as well as the changes in the type of marriages within the Israeli population necessitate a revision in the basis of the program. The screening should include instead of only the relatively frequent variants, all the variants that were reported among patients causing a severe disease for which the natural history is well known without regard of their frequency. The population-specific screening that determine which variants are included according to the origin of the couple should be abandoned for a general screening including either all the Jewish population or all the Israeli Arab population. BioMed Central 2019-12-16 /pmc/articles/PMC6912952/ /pubmed/31839005 http://dx.doi.org/10.1186/s13584-019-0345-1 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Commentary Zlotogora, Joël The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? |
title | The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? |
title_full | The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? |
title_fullStr | The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? |
title_full_unstemmed | The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? |
title_short | The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? |
title_sort | israeli national population program of genetic carrier screening for reproductive purposes. how should it be continued? |
topic | Commentary |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912952/ https://www.ncbi.nlm.nih.gov/pubmed/31839005 http://dx.doi.org/10.1186/s13584-019-0345-1 |
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