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: We assessed the effectiveness of educational interventions for conveying clinical findings and information about hereditary hemochromatosis (HH) and iron overload (IO) to individuals evaluated clinically after initial screening for HH/IO with serum ferritin (SF) concentration, transferrin saturation (TS), and HFE genotyping. A questionnaire mailed to 2300 cases and controls 1 month after a letter summarizing clinical findings measured understanding of results and recommendations, knowledge of HH/IO, and satisfaction with information received. Of 1622 (70.5%) participants completing relevant items, 83.6% were satisfied with receiving initial screening results by mail, 93.4% found information clear and easy to understand, 89.2% generally felt they got enough information, but 47.5% still had questions. C282Y/C282Y homozygosity with normal TS/SF predicted the best understanding of genetic results. Many with no mutations thought relatives were at risk. Iron levels created most confusion, and a third incorrectly recalled treatment recommendations. Having any abnormal result, lower education, older age, and being non-white, and/or non-English speaking predicted lower understanding. Combining genotypic and phenotypic screening for HH/IO creates additional difficulties in communicating results-particularly to those with low health literacy. Explaining aberrant iron TS and SF levels and low-risk genotypes, follow-up recommendations, and risk to relatives will need creative, culturally appropriate strategies.Genetics in medicine: official journal of the American College of Medical Genetics 12/2007; 9(11):778-91. · 3.92 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: The purpose of this study was to assess the level of satisfaction and understanding of test results, by a sample of non-C282Y homozygous participants in the hemochromatosis and iron overload screening (HEIRS) study, who received serum ferritin (SF), transferrin saturation (TS), and HFE gene test results by mail. Approximately 1 month after receiving test results by mail, participants were surveyed about understanding of and satisfaction with results notification. Overall, participants were satisfied with receiving test results by mail. Participants receiving results with one or two HFE mutations or TS and/or SF levels outside the normal range (an "alert value") were less likely to be satisfied with this method of notification. Participants with normal HFE test results understood their results and recommendations better than those with one or two mutations. Although all participants received results letters in their native language, English-speaking participants had higher mean understanding scores than Mandarin, Vietnamese, or Spanish-speaking participants. Participants were satisfied with receiving test results by mail. However, the level of understanding of the results was not sufficient for this mode of results notification to stand alone, especially for non-English speaking participants, and all participants with one or more test results outside the normal range.Genetic Testing 11/2008; 12(4):491-500. · 1.17 Impact Factor