Abu-Rabia R, Abo Rabia A, Birk O and Elana Shoham-Vardi
Consanguineous marriages could result in high incidence of autosomal recessive diseases, leading to high rates of infant mortality, morbidity and severe permanent handicap. In the current study we aim to assess the effectiveness of a community based genetic advisory service (CGAS) that was initiated in 2005 to improve the utilization rate of genetic counseling and carrier testing among Muslim Bedouin population in Israel. Data were collected from the CGAS intake records of couples or individuals who attended the CGAS through 2005-2006.
Of the 1433 referrals to the CGAS during the year 2006, 719 (50.1%) were referred by primary health providers as they belonged to families associated with autosomal recessive genetic diseases. Most (N=1043, 73.0%) of the referrals were pregnant women, 583 (81.0%) were in consanguineous marriages, 340 (58.3%) of which were married to first cousins. Of all those in consanguineous marriages, 456 (78.2% out of 583) were referred for carrier status genetic tests, 17.7% had been tested in the past, and 4.1% refused testing. Results indicate that a culturally compliant community-based genetic advisory service, along with full coverage of costs was found to be effective in achieving high rate of informed carrier testing. Informing couples of their risk lead to early referrals and relatively high acceptance of fetal testing by CVS in conformation with religious rules.
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