Literature DB >> 21412252

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.

Frauke Becker1, Carla G van El, Dolores Ibarreta, Eleni Zika, Stuart Hogarth, Pascal Borry, Anne Cambon-Thomsen, Jean Jacques Cassiman, Gerry Evers-Kiebooms, Shirley Hodgson, A Cécile J W Janssens, Helena Kaariainen, Michael Krawczak, Ulf Kristoffersson, Jan Lubinski, Christine Patch, Victor B Penchaszadeh, Andrew Read, Wolf Rogowski, Jorge Sequeiros, Lisbeth Tranebjaerg, Irene M van Langen, Helen Wallace, Ron Zimmern, Jörg Schmidtke, Martina C Cornel.   

Abstract

Mesh：

Year:  2011        PMID： 21412252      PMCID： PMC3327518          DOI： 10.1038/ejhg.2010.249

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  233 in total

1.  Appraising organised screening programmes for testing for genetic susceptibility to cancer.

Authors:  V Goel
Journal:  BMJ       Date:  2001-05-12

Review 2.  Population screening in the age of genomic medicine.

Authors:  Muin J Khoury; Linda L McCabe; Edward R B McCabe
Journal:  N Engl J Med       Date:  2003-01-02       Impact factor: 91.245

Review 3.  Coeliac disease: is it time for mass screening?

Authors:  M Luisa Mearin; Annali Ivarsson; William Dickey
Journal:  Best Pract Res Clin Gastroenterol       Date:  2005-06       Impact factor: 3.043

4.  Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms.

Authors:  G Gagné; D Reinharz; N Laflamme; P C Adams; F Rousseau
Journal:  Clin Genet       Date:  2007-01       Impact factor: 4.438

Review 5.  The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues.

Authors:  Stuart Hogarth; Gail Javitt; David Melzer
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

6.  Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.

Authors:  Hanno L Tan; Nynke Hofman; Irene M van Langen; Allard C van der Wal; Arthur A M Wilde
Journal:  Circulation       Date:  2005-07-05       Impact factor: 29.690

7.  Annotation: the analysis of variance and the analysis of causes.

Authors:  R C Lewontin
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

8.  Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

Authors:  Julius Gudmundsson; Patrick Sulem; Andrei Manolescu; Laufey T Amundadottir; Daniel Gudbjartsson; Agnar Helgason; Thorunn Rafnar; Jon T Bergthorsson; Bjarni A Agnarsson; Adam Baker; Asgeir Sigurdsson; Kristrun R Benediktsdottir; Margret Jakobsdottir; Jianfeng Xu; Thorarinn Blondal; Jelena Kostic; Jielin Sun; Shyamali Ghosh; Simon N Stacey; Magali Mouy; Jona Saemundsdottir; Valgerdur M Backman; Kristleifur Kristjansson; Alejandro Tres; Alan W Partin; Marjo T Albers-Akkers; Javier Godino-Ivan Marcos; Patrick C Walsh; Dorine W Swinkels; Sebastian Navarrete; Sarah D Isaacs; Katja K Aben; Theresa Graif; John Cashy; Manuel Ruiz-Echarri; Kathleen E Wiley; Brian K Suarez; J Alfred Witjes; Mike Frigge; Carole Ober; Eirikur Jonsson; Gudmundur V Einarsson; Jose I Mayordomo; Lambertus A Kiemeney; William B Isaacs; William J Catalona; Rosa B Barkardottir; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Kari Stefansson
Journal:  Nat Genet       Date:  2007-04-01       Impact factor: 38.330

Review 9.  Is genetic screening for hemochromatosis worthwhile?

Authors:  Omer T Njajou; Behrooz Z Alizadeh; Cornelia M van Duijn
Journal:  Eur J Epidemiol       Date:  2004       Impact factor: 8.082

Review 10.  Pharmacogenomics in Alzheimer's disease.

Authors:  Ramón Cacabelos
Journal:  Methods Mol Biol       Date:  2008
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  38 in total

1.  Europe and direct-to-consumer genetic tests.

Authors:  Heidi Carmen Howard; Pascal Borry
Journal:  Nat Rev Genet       Date:  2011-12-13       Impact factor: 53.242

2.  Issues concerning the evaluation and regulation of predictive genetic testing.

Authors:  R L Zimmern
Journal:  J Community Genet       Date:  2012-07-08

3.  Secondary variants--in defense of a more fitting term in the incidental findings debate.

Authors:  Gabrielle M Christenhusz; Koenraad Devriendt; Kris Dierickx
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246

4.  Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.

Authors:  Patrícia Ashton-Prolla; José Roberto Goldim; Filippo Pinto E Vairo; Ursula da Silveira Matte; Jorge Sequeiros
Journal:  J Community Genet       Date:  2015-06-04

5.  The challenge of implementing genetic tests with clinical utility while avoiding unsound applications.

Authors:  Martina C Cornel; Carla G van El; Pascal Borry
Journal:  J Community Genet       Date:  2012-10-09

6.  The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer.

Authors:  Claire C Conley; Dana Ketcher; Maija Reblin; Monica L Kasting; Deborah Cragun; Jongphil Kim; Kimlin Tam Ashing; Cheryl L Knott; Chanita Hughes-Halbert; Tuya Pal; Susan T Vadaparampil
Journal:  J Genet Couns       Date:  2020-01-07       Impact factor: 2.537

7.  Association of the SPT2 chromatin protein domain containing 1 gene rs17579600 polymorphism and serum lipid traits.

Authors:  Tao Guo; Rui-Xing Yin; Yuan Bin; Rong-Jun Nie; Xia Chen; Shang-Ling Pan
Journal:  Int J Clin Exp Pathol       Date:  2015-10-01

8.  A Qualitative Study of Anticipated Decision Making around Type 2 Diabetes Genetic Testing: the Role of Scientifically Concordant and Discordant Expectations.

Authors:  Alicia G Carmichael; Bailey B Hulswit; Emily J Moe; Toby Epstein Jayaratne; Beverly M Yashar
Journal:  J Genet Couns       Date:  2016-07-28       Impact factor: 2.537

Review 9.  Pitfalls of predicting complex traits from SNPs.

Authors:  Naomi R Wray; Jian Yang; Ben J Hayes; Alkes L Price; Michael E Goddard; Peter M Visscher
Journal:  Nat Rev Genet       Date:  2013-07       Impact factor: 53.242

10.  A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

Authors:  Stephanie S Weinreich; Astrid Bosma; Lidewij Henneman; Tessel Rigter; Carla M J Spruijt; Anneliese J E M A Grimbergen; Martijn H Breuning; Eelco J P de Koning; Monique Losekoot; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2014-04-16       Impact factor: 4.246
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