ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
The Israeli national population program of genetic carrier screening for reproductive purposes.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.European journal of medical research · 2024Pooled it
- Review
- Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province.Molecular genetics & genomic medicine · 2025Article
- Prevalence and implications of fragile X premutation screening in Thailand.Scientific reports · 2024Article
- Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population.Journal of community genetics · 2024Article
- Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China.Journal of community genetics · 2024Article
- Carrier screening programs for rare diseases in developed countries and the case of Turkey: A systematic review.Intractable & rare diseases research · 2023Review
- Scaling-up and future sustainability of a national reproductive genetic carrier screening program.NPJ genomic medicine · 2023Article
- Executive Function and Working Memory Deficits in Females with Fragile X Premutation.Life (Basel, Switzerland) · 2023Article
- Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review.Journal of community genetics · 2023Article
- Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.Scientific reports · 2022Article
- Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").European journal of human genetics : EJHG · 2021Article
- The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users.Journal of assisted reproduction and genetics · 2020Article
- Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.Molecular genetics & genomic medicine · 2020Article
- Population structure and inherited genetic disorders in the Bedouin of the Negev.Journal of community genetics · 2020Article
- Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?Frontiers in genetics · 2020Article
- Half a Century of Wilson & Jungner: Reflections on the Governance of Population Screening.Wellcome open research · 2020Article
- The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?Israel journal of health policy research · 2019Article
- The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity.Molecular genetics & genomic medicine · 2019Article
- Autosomal recessive diseases among the Israeli Arabs.Human genetics · 2019Article
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe Israeli population genetic screening program for reproductive purposes, launched in January 2013, includes all known, nationally frequent severe diseases (carrier frequency 1:60 and/or disease frequency 1 in 15,000 live births). The carrier screening program is free of charge and offers testing for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy for nearly the entire population, according to disease frequency among the different groups within the population. We report the results of the first year of the program.
methodsData on the tests performed over a 12-month period were collected from laboratories nationwide.
resultsMore than 62,000 individuals were examined. The carrier frequency was within the expected range for most of the diseases. The few exceptions included lower carrier rates for cystic fibrosis among Muslim Arabs (1:236) and Druze (1:1,021) and Niemann-Pick type A among Muslim Arabs in a delineated region of Israel (1:229).
conclusionThe national population genetic carrier screening is aimed toward providing couples with knowledge of the existing options for the prevention of serious genetic conditions when it is relevant for them. It is still too early to determine whether this aim has been achieved.
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