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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Published on: June 21, 2018

Genetic testing in Israel: an overview.

Guy Rosner¹, Serena Rosner, Avi Orr-Urtreger

¹The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel. guyr@tasmc.health.gov.il

Annual Review of Genomics and Human Genetics

|May 21, 2009

Summary

Genetic screening is increasing in Israel due to its healthcare system and diverse population. Culturally tailored programs aim to reduce genetic diseases by addressing barriers in religious communities.

Area of Science:

Medical Genetics
Public Health
Sociology of Health

Background:

Israel exhibits widespread and increasing utilization of genetic screening and testing services.
The National Program for the Detection and Prevention of Birth Defects, a central genetic disorder registry, and accessible medical genetic units facilitate extensive genetic service use.
Israeli society is ethnically, religiously, and culturally diverse, with documented founder mutations in various subpopulations.

Purpose of the Study:

To examine the factors influencing the extensive use of genetic services in Israel.
To address the challenges posed by cultural and religious diversity to genetic testing participation.
To highlight the development of culturally appropriate genetic programs to reduce severe genetic diseases.

Main Methods:

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Review of the Israeli healthcare system's structure and governmental programs supporting genetic services.
Analysis of the ethnic, religious, and cultural diversity within Israel and its impact on genetic health.
Description of culturally sensitive genetic programs implemented in religious communities.

Main Results:

Carrier screening and prenatal diagnostic testing are established but face challenges in religious communities due to objections to pregnancy termination.
Founder mutations are prevalent in specific ethnic groups, villages, and tribes within Israel.
Culturally appropriate genetic programs have been initiated to overcome barriers and improve participation.

Conclusions:

The widespread use of genetic services in Israel is supported by its healthcare infrastructure and national programs.
Cultural and religious diversity presents unique challenges to genetic testing uptake, particularly concerning pregnancy termination.
Targeted, culturally sensitive genetic programs are crucial for reducing the national incidence of severe genetic diseases.