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The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

ABSTRACT: 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.

SUBMITTER: Zlotogora J

PROVIDER: S-EPMC6912952 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora Joël J

Israel journal of health policy research 20191216 1

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 ...[more]

PMID: 31839005

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Project description:Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but these tests have not been integrated in a public health policy except for specific sub-groups. We aimed to provide an overview of the perspectives of multiple professional stakeholder groups in order to enhance a responsible implementation of population-based reproductive genetic carrier screening. We conducted a systematic literature search using eight online databases focussing on studies that were published from January 2009 to January 2021. We selected articles dealing with attitudes and opinions from different professional stakeholders, in particular healthcare professionals and policymakers, on how to implement a policy about carrier screening for a reproductive purpose. We identified 18 studies that met our inclusion criteria. Based on our inductive analysis, we identified ten themes categorized in both clinical and program management challenges: ensuring availability of RGCS to all couples who request the test, embedding RGCS as a test offer before pregnancy, providing clear and reliable information, ensuring voluntary participation, developing genetic counselling pre- and post-testing (after positive or negative result), avoiding psychological harm, ensuring equal access, avoiding social pressure, educating and involving a broad spectrum of non-genetic health care professionals, and promoting an independent non-commercial organisational structure. We highlight one major stumbling block on how to responsibly inform couples about hundreds different genetic conditions within constraints regarding time and ability of non-genetic professionals. We promote further research to tackle the issues brought up by this systematic review through pilot studies. Trial Registration: PROSPERO International Prospective Register of Systematic Reviews PROSPERO 2021 # CRD42021233762; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=233762 .

Dataset Information

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Publications

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Similar Datasets

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