Population screening in a Druze community: The challenge and the reward

Tzipora C. Falik-Zaccai, Nechama Kfir, Pnina Frenkel, Cindy Cohen, Mary Tanus, Hanna Mandel, Shihab Shihab, Siman Morkos, Salameh Aaref, Marshall L. Summar, Morad Khayat

Research output: Contribution to journalArticlepeer-review

38 Scopus citations

Abstract

Purpose: The Druze community is characterized by consanguinity and endogamy, and by reluctance to genetic testing and technological interventions for the prevention of birth defects. Multiple patients with four rare and severe inborn errors of metabolism cerebrotendinous xanthomatosis, prolidase deficiency, argininosuccinate lyase deficiency, and carbamyl phosphate synthetase I deficiency were identified in an isolated Druze village in northern Israel. The aims of this study were to identify couples at risk for four inherited diseases, and to prevent birth defects in a community presenting religious and cultural obstacles to genetic testing. Methods: A genetic screening and counseling program in a high-risk community. Results: The 1425 residents who attended group genetic counseling sessions between 2003 and 2007 consented to genetic testing. We identified 217 carriers for either one or two disease causing mutations. High carrier frequencies for cerebrotendinous xanthomatosis, prolidase deficiency, argininosuccinate lyase deficiency, and carbamyl phosphate synthetase I deficiency were identified as 1:11, 1:21, 1:41, and 1:95, respectively. Fifty-eight percent (125) of the carriers' spouses agreed to genetic counseling and testing. Ten couples at risk for affected offspring were identified and offered prenatal genetic counseling and diagnosis. Conclusions: The genetic screening program, the first of its kind reported in a Druze community, was well received. We expect this program to increase awareness of genetic counseling, to contribute to disease prevention, and to serve as a model for other isolated communities.

Original languageEnglish
Pages (from-to)903-909
Number of pages7
JournalGenetics in Medicine
Volume10
Issue number12
DOIs
StatePublished - Dec 2008
Externally publishedYes

Keywords

  • Argininosuccinate lyase deficiency
  • Carbamyl phosphate synthetase I deficiency
  • Cerebrotendinous xanthomatosis
  • Population screening
  • Prolidase deficiency

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