Educational outcomes of a workplace screening program for genetic susceptibility to hemochromatosis.
ABSTRACT Education is an essential component of a genetic screening program. Knowledge outcomes were measured after large-scale workplace education and screening for genetic susceptibility to hereditary hemochromatosis. The aim was to assess knowledge of concepts presented, impact of mode of delivery, and knowledge retention. Education in a group setting was delivered via oral or video presentation and knowledge assessed using self-administered questionnaires at baseline, 1 month, and 12 months. Over 60% of 11 679 participants correctly answered all questions at baseline, scoring higher with clinical concepts (disease etiology and treatment) than genetic concepts (penetrance and genetic heterogeneity). Revising the education program significantly increased correct responses for etiology (p < 0.002), whilst modifying the knowledge assessment tool significantly increased correct responses for etiology (p < 0.001) and gene penetrance (p < 0.001). For three of the four concepts assessed, use of video was as effective as oral presentation for knowledge outcomes. A significantly higher proportion of those at increased risk of disease (n = 44) responded correctly at 12 months than did controls (n = 82; p = 0.011 for etiology, p = 0.002 for treatment and p = 0.003 for penetrance). Hence, genetic screening can be successfully offered in a group workplace setting, with participants remembering clinical concepts better than genetic concepts up to 1 year later.
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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.European journal of human genetics: EJHG 01/2012; 20(5):505-9. · 3.56 Impact Factor
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ABSTRACT: Herentziazko hemokromatosia (HH) odolean, gibelean, bihotzean eta beste organo batzuetan burdin gehiegi metatzetik sortzen den gaixotasun metabolikoa da. HFE genearen mutazioek eragiten dute. HH duten pertsonek HFE genearen Cys282Tyr mutazioaren bi kopia daramatzate ia beti, baita gene beraren His63Asp mutazioren beste bat ere. His63Asp mutazioaren bi kopia dituzten pertsonak eta bi mutazioen zeinahiren kopia bakarra duten pertsona eramaileek ez dute biztanleria normalak baino arrisku handiagoa hemokromatosia sufritzeko. 9 lagun bakoitzetik bat mutazio horietakoren baten eramailea da: gene normalaren kopia bat dute eta beste bat, mutazioduna. Gaixotasuna duten pertsonek guraso bakoitzetik kopia mutante bat jaso dute eta, sarritan, hemokromatosia ez duten mutazioaren eramaileak dira. Gaixotasun honen intzidentzia handia izan arren (% 0,3), kasu gehienak ez dira diagnostikatzen. Zorionez, HH goiz diagnostikatuz gero, tratamendu bakun eta eraginkorra duen gaixotasun gutxienetakoen artean dago. Tratamendu pean, gaixoaren bizi-itxaropena normala da. ADN probak mutazioaren kopia baten eramaileak diren eta gaixotasuna garatuko duten seme-alabak izateko arriskua duten pertsonak huts egin gabe antzematen laguntzen du, baita jadanik gaixotasuna duten mutazioaren bi kopiak dituzten pertsonak edo etorkizunean probabilitate oso handiarekin garatuko dutenak ere. HH diagnostikoaren helburuak HFE genearen mutazioen azterlan molekularrean eta aholku genetikoan oinarritzen dira. Aholku genetikoa egin behar da gaixoari eta familiari herentzia motaren, gaixotasunaren inplikazioen eta arrisku genetikoaren berri emateko. Familiaren historia, zuhaitz genealogikoa eta test genetikoak egin behar dira familiako kideen egoera argitzeko.Gaceta Médica de Bilbao. 01/2008; 105:85-93.
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ABSTRACT: Aim: Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE C282Y substitution. A workplace-screening program was conducted in which over 11,000 individuals were screened for this mutation. A substudy of this project was to ascertain why people chose not to attend information and screening sessions offered in their workplace. Method: Staff were recruited by email, questionnaires in common areas, and direct approach. A purpose-designed questionnaire sought the reasons for not attending information and screening sessions. Results: The nonattender questionnaire was distributed at 24 workplaces and completed by 872 individuals. The most common reason for not attending sessions, accounting for 70.1%, was practical (e.g., unaware of session, too busy, or unavailable). Other relatively common reasons were that the individual had low iron levels or were a blood donor (14.9%), or that hemochromatosis was considered unimportant (12.2%). Insurance concerns were very rarely cited as the reason for nonattendance (1.0%). Conclusion: The nonattender data presented here indicate that concerns about insurance, anxiety, and use of genetic information are not major factors for why people did not attend workplace information and screening sessions for hereditary hemochromatosis. Practical barriers were the major reasons identified. This highlights that when implementing screening programs, as many practical barriers as possible need to be overcome, so that a maximum number of people who would like to be informed about screening are given the opportunity to do so.Genetic Testing and Molecular Biomarkers 10/2012; · 1.44 Impact Factor