title: Population screening in a Druze community: the challenge and the reward.
abstract: OBJECTIVE
  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.
authors.affiliation: Institute of Human Genetics, Western Galilee Hospital-Nahariya, Israel. Tzipora.Falik@naharia.health.gov.il
authors.forename: Tzipora C
authors.initials: TC
authors.lastname: Falik-Zaccai
authors.forename: Nechama
authors.initials: N
authors.lastname: Kfir
authors.forename: Pnina
authors.initials: P
authors.lastname: Frenkel
authors.forename: Cindy
authors.initials: C
authors.lastname: Cohen
authors.forename: Mary
authors.initials: M
authors.lastname: Tanus
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
authors.forename: Shihab
authors.initials: S
authors.lastname: Shihab
authors.forename: Siman
authors.initials: S
authors.lastname: Morkos
authors.forename: Salameh
authors.initials: S
authors.lastname: Aaref
authors.forename: Marshall L
authors.initials: ML
authors.lastname: Summar
authors.forename: Morad
authors.initials: M
authors.lastname: Khayat
mesh_terms: D001123:Argininosuccinate Lyase / Q000235:genetics; D056807:Argininosuccinic Aciduria; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D003241:Consanguinity; D004150:Dipeptidases / Q000172:deficiency / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008877:Middle East / Q000208:ethnology; D044382:Population Groups / Q000208:ethnology / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control
chemical_list: D004150:Dipeptidases; C022449:proline dipeptidase; D001123:Argininosuccinate Lyase