Literature DB >> 22234159

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

Martin B Delatycki1, Michelle Wolthuizen, Veronica Collins, Elizabeth Varley, Joanna Craven, Katrina J Allen, Lyle C Gurrin, Maryanne Aitken, M Kaye Trembath, Lyndal Bond, Gabrielle R Wilson, Sarah E M Stephenson, Ivan Macciocca, Chriselle Hickerton, Paul J Lockhart, Sylvia A Metcalfe.   

Abstract

As the results of the Human Genome Project are realised, screening for genetic mutations that predispose to preventable disease is becoming increasingly possible. How and where such screening should best be offered are critical, unanswered questions. This study aimed to assess the acceptability and feasibility of genetic screening for preventable disease, using the model of hereditary haemochromatosis, in high-school students. Screening was offered for the HFE C282Y substitution to 17,638 students. Questionnaires were administered at the time of screening (Q1) and approximately 1 month after results were communicated (Q2). Outcomes assessed were uptake of screening, change in scores of validated anxiety, affect and health perception scales from Q1 to Q2, knowledge and iron indices in C282Y homozygous individuals. A total of 5757 (32.6%) students had screening and 28 C282Y-homozygous individuals (1 in 206) were identified, and none of the 27 individuals who had iron indices measures had significant iron overload. There was no significant change in measures of anxiety, affect or health perception in C282Y homozygous or non-homozygous individuals. Over 86% of students answered each of five knowledge questions correctly at Q1. Genetic population-based screening for a preventable disease can be offered in schools in a way that results in minimal morbidity for those identified at high risk of disease. The results of this study are not only relevant for haemochromatosis, but for other genetic markers of preventable disease such as those for cardiovascular disease and cancer.

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Year:  2012        PMID: 22234159      PMCID: PMC3330225          DOI: 10.1038/ejhg.2011.247

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


  34 in total

1.  Screening for hereditary haemochromatosis should be implemented now.

Authors:  K Allen; R Williamson
Journal:  BMJ       Date:  2000-01-15

2.  Insurance agreement to facilitate genetic testing.

Authors:  Martin Delatycki; Katrina Allen; Robert Williamson
Journal:  Lancet       Date:  2002-04-20       Impact factor: 79.321

3.  Clinical haemochromatosis in HFE mutation carriers.

Authors:  K J Allen; B Warner; M B Delatycki
Journal:  Lancet       Date:  2002-08-03       Impact factor: 79.321

4.  Clinical haemochromatosis in HFE mutation carriers.

Authors:  A Poullis; S J Moodie; J D Maxwell
Journal:  Lancet       Date:  2002-08-03       Impact factor: 79.321

5.  Clinical haemochromatosis in HFE mutation carriers.

Authors:  Timothy Cox; Jacques Rochette; Clara Camaschella; Ann Walker; Kathryn Robson
Journal:  Lancet       Date:  2002-08-03       Impact factor: 79.321

6.  Psychosocial impact of C282Y mutation testing for hemochromatosis.

Authors:  T E Power; P C Adams
Journal:  Genet Test       Date:  2001

7.  Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

Authors:  Ernest Beutler; Vincent J Felitti; James A Koziol; Ngoc J Ho; Terri Gelbart
Journal:  Lancet       Date:  2002-01-19       Impact factor: 79.321

8.  Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis.

Authors:  A A Gason; M A Aitken; S A Metcalfe; K J Allen; M B Delatycki
Journal:  Clin Genet       Date:  2005-02       Impact factor: 4.438

9.  Evaluation of a Tay-Sachs disease screening program.

Authors:  A A Gason; E Sheffield; A Bankier; M A Aitken; S Metcalfe; K Barlow Stewart; M B Delatycki
Journal:  Clin Genet       Date:  2003-05       Impact factor: 4.438

10.  Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.

Authors:  Corrine O Smith; Hillary P Lipe; Thomas D Bird
Journal:  Arch Neurol       Date:  2004-06
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  3 in total

1.  A Genomically Informed Education System? Challenges for Behavioral Genetics.

Authors:  Maya Sabatello
Journal:  J Law Med Ethics       Date:  2018-03-27       Impact factor: 1.718

2.  Responsible implementation of expanded carrier screening.

Authors:  Lidewij Henneman; Pascal Borry; Davit Chokoshvili; Martina C Cornel; Carla G van El; Francesca Forzano; Alison Hall; Heidi C Howard; Sandra Janssens; Hülya Kayserili; Phillis Lakeman; Anneke Lucassen; Sylvia A Metcalfe; Lovro Vidmar; Guido de Wert; Wybo J Dondorp; Borut Peterlin
Journal:  Eur J Hum Genet       Date:  2016-03-16       Impact factor: 4.246

Review 3.  Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening.

Authors:  Jörg Schmidtke
Journal:  Genes (Basel)       Date:  2022-09-09       Impact factor: 4.141

  3 in total

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