title: The Israeli national population program of genetic carrier screening for reproductive purposes.
abstract: OBJECTIVE
  The Israeli population genetic screening program for reproductive purposes, launched in January 2013, includes all known, nationally frequent severe diseases (carrier frequency 1:60 and/or disease frequency 1 in 15,000 live births). The carrier screening program is free of charge and offers testing for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy for nearly the entire population, according to disease frequency among the different groups within the population. We report the results of the first year of the program.
  
  
  METHODS
  Data on the tests performed over a 12-month period were collected from laboratories nationwide.
  
  
  RESULTS
  More than 62,000 individuals were examined. The carrier frequency was within the expected range for most of the diseases. The few exceptions included lower carrier rates for cystic fibrosis among Muslim Arabs (1:236) and Druze (1:1,021) and Niemann-Pick type A among Muslim Arabs in a delineated region of Israel (1:229).
  
  
  CONCLUSIONS
  The national population genetic carrier screening is aimed toward providing couples with knowledge of the existing options for the prevention of serious genetic conditions when it is relevant for them. It is still too early to determine whether this aim has been achieved.
authors.affiliation: Department of Community Genetics.|Public Health Services.|Ministry of Health, Jerusalem, Israel.|Hadassah Medical School, Hebrew University, Jerusalem, Israel.
authors.forename: Joël
authors.initials: J
authors.lastname: Zlotogora
authors.affiliation: Public Health Services.|Ministry of Health, Jerusalem, Israel.|Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: Itamar
authors.initials: I
authors.lastname: Grotto
authors.affiliation: Public Health Services.|Ministry of Health, Jerusalem, Israel.
authors.forename: Ehud
authors.initials: E
authors.lastname: Kaliner
authors.affiliation: Ministry of Health, Jerusalem, Israel.
authors.forename: Ronni
authors.initials: R
authors.lastname: Gamzu
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007557:Israel; D008297:Male; D008403:Mass Screening; D009313:National Health Programs