ArticleEuropean journal of human genetics : EJHG2009
A targeted population carrier screening program for severe and frequent genetic diseases in Israel.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- RareBrain communications · 2025Article
- Long-term outcomes after pre-emptive liver transplantation in primary hyperoxaluria type 1.Pediatric nephrology (Berlin, Germany) · 2023Article
- Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review.Journal of community genetics · 2023Article
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Novel therapeutic approaches for the primary hyperoxalurias.Pediatric nephrology (Berlin, Germany) · 2021Review
- Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study.BMC medical ethics · 2020Article
- Consanguinity and genetic diseases among the Bedouin population in the Negev.Journal of community genetics · 2020Review
- The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?Israel journal of health policy research · 2019Article
- Autosomal recessive diseases among the Israeli Arabs.Human genetics · 2019Article
- With expanded carrier screening, founder populations run the risk of being overlooked.Journal of community genetics · 2017Article
- Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape.BMC health services research · 2017Article
- Responsible implementation of expanded carrier screening.European journal of human genetics : EJHG · 2016Article
- The Israeli national population program of genetic carrier screening for reproductive purposes.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Genetics and genomic medicine in Israel.Molecular genetics & genomic medicine · 2014Article
- Genetic counseling services and training of genetic counselors in Israel: an overview.Journal of genetic counseling · 2013Review
- Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.European journal of human genetics : EJHG · 2013Article
- Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Orphanet journal of rare diseases · 2012Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
- Weighted pooling--practical and cost-effective techniques for pooled high-throughput sequencing.Bioinformatics (Oxford, England) · 2012Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A national carrier screening program targeted at communities in which severe genetic diseases are present with a frequency higher than 1/1000 live births, has been in existence in Israel since 2002. Within the communities at risk, carrier screening is voluntary whereas genetic counseling and testing is provided free of charge. During the first 5 years of the program more than 13 000 tests were performed, and at the end of 2007 it was offered in 35 different localities/communities for a total of 36 diseases. Many of the couples identified to be at risk opted for prenatal diagnosis and in two cases an affected pregnancy was terminated. In some cases the couples declined prenatal diagnosis and two of those families gave birth to an affected child. Based on the experience learnt from this targeted screening program it appears that a knowledge-based, voluntary screening program operated within the community is an effective way to provide genetic services and test referrals. The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.