Joël Zlotogora1,2,3,4, Itamar Grotto2,3,5, Ehud Kaliner2,3, Ronni Gamzu3. 1. Department of Community Genetics. 2. Public Health Services. 3. Ministry of Health, Jerusalem, Israel. 4. Hadassah Medical School, Hebrew University, Jerusalem, Israel. 5. Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
Abstract
PURPOSE: 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). CONCLUSION: 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.
PURPOSE: 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). CONCLUSION: 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: Jodi D Hoffman; Jessica J Park; Nicole Schreiber-Agus; Ruth Kornreich; Alice K Tanner; Steven Keiles; Kenneth J Friedman; Ruth A Heim Journal: Prenat Diagn Date: 2014-07-31 Impact factor: 3.050
Authors: Gabriel A Lazarin; Imran S Haque; Shivani Nazareth; Kevin Iori; A Scott Patterson; Jessica L Jacobson; John R Marshall; William K Seltzer; Pasquale Patrizio; Eric A Evans; Balaji S Srinivasan Journal: Genet Med Date: 2012-09-13 Impact factor: 8.822
Authors: Lidia V Gabis; Noah Gruber; Michal Berkenstadt; Shahar Shefer; Odelia Leon Attia; Dana Mula; Yoram Cohen; Shai E Elizur Journal: Cerebellum Date: 2016-10 Impact factor: 3.847
Authors: Doron M Behar; Ori Inbar; Michal Shteinberg; Michal Gur; Huda Mussaffi; David Shoseyov; Moshe Ashkenazi; Soliman Alkrinawi; Concetta Bormans; Fahed Hakim; Meir Mei-Zahav; Malena Cohen-Cymberknoh; Adi Dagan; Dario Prais; Ifat Sarouk; Patrick Stafler; Bat El Bar Aluma; Gidon Akler; Elie Picard; Micha Aviram; Ori Efrati; Galit Livnat; Joseph Rivlin; Lea Bentur; Hannah Blau; Eitan Kerem; Amihood Singer Journal: Mol Genet Genomic Med Date: 2017-02-19 Impact factor: 2.183
Authors: Caron M Molster; Karla Lister; Selina Metternick-Jones; Gareth Baynam; Angus John Clarke; Volker Straub; Hugh J S Dawkins; Nigel Laing Journal: Front Public Health Date: 2017-02-24
Authors: Nigel G Laing; Martin B Delatycki; Edwin P Kirk; Royston Ong; Kirsten Boggs; Tristan Hardy; Sarah Righetti; Ben Kamien; Tony Roscioli; David J Amor; Madhura Bakshi; Clara W T Chung; Alison Colley; Robyn V Jamieson; Jan Liebelt; Alan Ma; Nicholas Pachter; Sulekha Rajagopalan; Anja Ravine; Meredith Wilson; Jade Caruana; Rachael Casella; Mark Davis; Samantha Edwards; Alison Archibald; Julie McGaughran; Ainsley J Newson Journal: Eur J Hum Genet Date: 2020-07-16 Impact factor: 4.246