Literature DB >> 19390864

Population programs for the detection of couples at risk for severe monogenic genetic diseases.

Joël Zlotogora1.   

Abstract

Population genetic screening programs for carrier detection of severe genetic disorders exist worldwide, mainly for beta-thalassemia. These screening programs are either mandatory or voluntary. In several Arab countries and Iran, the state has made thalassemia carrier detection mandatory, while tests for detecting carriers are required by the religious authorities in Cyprus. In all the existing mandatory genetic screening programs, the couples have to get the information about the tests before marriage, but the decision whether or not to marry is left to them. Voluntary programs exist for instance in several Mediterranean countries for the prevention of thalassemia and for several genetic diseases among Jews. While voluntary programs leave the decision to be screened or not to the individual, a major problem is that in many cases awareness about the existence of screening tests is very sparse. Some programs, for instance in Canada or Australia, therefore provide education about genetic tests and screening at school in order to allow the individuals to be able to make an informed decision about their reproductive choices.

Entities:  

Mesh:

Year:  2009        PMID: 19390864     DOI: 10.1007/s00439-009-0669-y

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  34 in total

1.  Eugenics and genetic testing.

Authors:  N A Holtzman
Journal:  Sci Context       Date:  1998 Autumn-Winter       Impact factor: 0.425

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Authors:  Joël Zlotogora; Rivka Carmi; Boaz Lev; Stavit A Shalev
Journal:  Eur J Hum Genet       Date:  2008-12-24       Impact factor: 4.246

Review 3.  A comprehensive screening program for cystic fibrosis.

Authors:  Joël Zlotogora; Avi Israeli
Journal:  Isr Med Assoc J       Date:  2009-09       Impact factor: 0.892

4.  A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.

Authors:  S Zeesman; C L Clow; L Cartier; C R Scriver
Journal:  Am J Med Genet       Date:  1984-08

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Authors:  A Cao; C Rosatelli; R Galanello; G Monni; G Olla; P Cossu; M S Ristaldi
Journal:  Clin Genet       Date:  1989-11       Impact factor: 4.438

6.  Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.

Authors:  J J Mitchell; A Capua; C Clow; C R Scriver
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

Review 7.  Tunisia: communities and community genetics.

Authors:  Habiba Chaabouni-Bouhamed
Journal:  Community Genet       Date:  2008-08-05

8.  Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.

Authors:  A Cao; R Congiu; M C Sollaino; M F Desogus; F R Demartis; D Loi; M Cau; R Galanello
Journal:  Community Genet       Date:  2008-03-26

9.  Models of preconception care implementation in selected countries.

Authors:  Shahul H Ebrahim; Sue Seen-Tsing Lo; Jiatong Zhuo; Jung-Yeol Han; Pierre Delvoye; Li Zhu
Journal:  Matern Child Health J       Date:  2006-06-09

10.  Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling.

Authors:  Alexandra A Gason; Sylvia A Metcalfe; Martin B Delatycki; Vicki Petrou; Edith Sheffield; Agnes Bankier; Maryanne Aitken
Journal:  Genet Med       Date:  2005 Nov-Dec       Impact factor: 8.822

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  20 in total

1.  Commentary: a sociologist's view on community genetics.

Authors:  Aviad E Raz
Journal:  J Community Genet       Date:  2010-02-25

2.  The science of online dating. Can the application of science to unravel the biological basis of love complement the traditional, romantic ideal of finding a soul mate?

Authors:  Giovanni Frazzetto
Journal:  EMBO Rep       Date:  2010-01       Impact factor: 8.807

3.  At-risk marriages after compulsory premarital testing and counseling for β-thalassemia and sickle cell disease in Saudi Arabia, 2005-2006.

Authors:  Fahad M Alswaidi; Ziad A Memish; Sarah J O'Brien; Nasser A Al-Hamdan; Faisal M Al-Enzy; Osamah A Alhayani; Ali M Al-Wadey
Journal:  J Genet Couns       Date:  2011-08-09       Impact factor: 2.537

4.  Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.

Authors:  Yunru Shao; Shuling Liu; Karen Grinzaid
Journal:  J Community Genet       Date:  2015-01-07

5.  Red blood cell indices and prevalence of hemoglobinopathies and glucose 6 phosphate dehydrogenase deficiencies in male Tanzanian residents of Dar es Salaam.

Authors:  Solomon Mwakasungula; Tobias Schindler; Said Jongo; Elena Moreno; Kasimu Kamaka; Mgeni Mohammed; Selina Joseph; Ramla Rashid; Thabit Athuman; Anneth Mwasi Tumbo; Ali Hamad; Omar Lweno; Marcel Tanner; Seif Shekalaghe; Claudia A Daubenberger
Journal:  Int J Mol Epidemiol Genet       Date:  2014-12-15

6.  Next-generation community genetics for low- and middle-income countries.

Authors:  Stephen F Kingsmore; John D Lantos; Darrell L Dinwiddie; Neil A Miller; Sarah E Soden; Emily G Farrow; Carol J Saunders
Journal:  Genome Med       Date:  2012-03-29       Impact factor: 11.117

7.  Compressed Genotyping.

Authors:  Yaniv Erlich; Assaf Gordon; Michael Brand; Gregory J Hannon; Partha P Mitra
Journal:  IEEE Trans Inf Theory       Date:  2010-02       Impact factor: 2.501

8.  Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India.

Authors:  Nishi Madan; Satendra Sharma; S K Sood; Roshan Colah; Late H M Bhatia
Journal:  Indian J Hum Genet       Date:  2010-01

9.  Swedish healthcare providers' perceptions of preconception expanded carrier screening (ECS)-a qualitative study.

Authors:  A Matar; U Kihlbom; A T Höglund
Journal:  J Community Genet       Date:  2016-05-25

10.  Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.

Authors:  Carlo Castellani; Luigi Picci; Gloria Tridello; Elia Casati; Anna Tamanini; Lucia Bartoloni; Maurizio Scarpa; Baroukh M Assael
Journal:  Genet Med       Date:  2015-06-18       Impact factor: 8.822

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