Abstract of L. Basel-Vanagaite lecture


PREVENTIVE CARRIER SCREENING PROGRAM FOR SEVERE
INTELLECTUAL DISABILITY IN AN ISOLATED POPULATION IN
ISRAEL

L. Basel-Vanagaite
Pediatric Genetics, Schneider Children's Medcal Center of Israel and Raphael
Recanati Genetics Institute, Rabin Medical CenterPetah TikvaIsrael, Tel Aviv
UniversityIsrael

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 implemented in Israel since 2002. Within
the communities at risk, carrier screening is voluntary; genetic
counseling and testing is provided free of charge. We present a
comprehensive strategy for intellectual disability prevention in the
specific isolated community in Israel and examine the impact of the
screening on the population. During 7 consecutive years we carried
out carrier genetic screening among the residents of an isolated
village of 10,500 inhabitants with a high frequency of non-syndromic
intellectual disability (MRT3). The subjects were pregnant women
visiting the women's health station for routine monitoring. Carrier
frequency for MRT3 was 1:11. Carrier couples were identified and
prenatal diagnosis offered. The availability of genetic counseling
locally and education of the population are essential for the success of
the prevention program. 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 prevent severe intellectual disability. Ethical aspects
of preventative programs based on genetic screening of premarital,
pre-conceptual couples or couples during pregnancy will be
discussed.

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