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

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.

Responsible implementation of expanded carrier screening

“…‘Peer pressure' has been reported as a reason to participate in high-school carrier screening, 49 although a study offering hereditary haemochromatosis in the high-school setting showed that <1% of the students indicated that the decisions of their friends/peers influenced their participation in screening. 120 …”

To tell or not to tell – what to do about p.C282Y heterozygotes identified by HFE screening

“…There was no difference in any measure of anxiety, affect or health perception between CY and CC individuals 1 month after receiving results (Table 1). (1) to extremely (5). The two subscales therefore have a scoring range of 10-50 where a higher score indicates greater affect.…”

“…The overall methods of the ironXS study have been presented in detail previously . Screening results were provided to parents and students via their home contact details.…”

“…Our team has undertaken two large studies of population screening for p.C282Y. The first, HaemScreen, was conducted in workplaces whereas the second, ironXS, recruited subjects in high schools . In HaemScreen, the workplace study, the decision was made to send the same letter to CY and CC individuals informing them that they are at low risk of HH (Fig.…”

“…The first, HaemScreen, was conducted in workplaces (2,3) whereas the second, ironXS, recruited subjects in high schools (4,5). The first, HaemScreen, was conducted in workplaces (2,3) whereas the second, ironXS, recruited subjects in high schools (4,5).…”