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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Acknowledgements
This study was funded by the National Health and Medical Research Council (491224) and the Jack Brockhoff Foundation. MBD is a National Health and Medical Research Council (Australia) Practitioner Fellow. KJA is Viertel Senior Medical Research Fellow.
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Delatycki, M., Wolthuizen, M., Collins, V. et al. ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible. Eur J Hum Genet 20, 505–509 (2012). https://doi.org/10.1038/ejhg.2011.247
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DOI: https://doi.org/10.1038/ejhg.2011.247
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