Results communication and patient education after screening for possible hemochromatosis and iron overload: experience from the HEIRS Study of a large ethnically and linguistically diverse group

Abstract

; for the Hemochromatosis and Iron Overload Study Research InvestigatorsPurpose: 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. Methods: 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. Results: 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. Conclusions: 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. Genet Med 2007:9(11):778 -791. Key Words: genetic counseling, genetics education, health literacy, hemochromatosis screening, HFE geneHereditary hemochromatosis (HH) is a common disorder that causes some affected individuals to develop iron overload (IO) because of increased intestinal absorption of iron. This may lead to serious complications including hepatic cirrhosis, liver cancer, diabetes mellitus, cardiomyopathy, arthropathy, endocrinopathy, and a shortened lifespan. 1,2 Early detection can prevent development of IO in susceptible individuals, and therapeutic phlebotomy can reverse both the IO and some of its complications in those already symptomatic. 3 Because of these effective interventions and the fact that HH occurs in 0.3-0.5% of whites of Western European descent, it is a candidate for population-based screening. 4 The success of such a screening program depends not only on correctly identifying those who are at risk, but also on ensuring that those who screen positive receive additional diagnostic assessment, understand the potential manifestations of the condition, learn how symptoms can be prevented or treated, and notify others in their family who could be at risk. Because misunderstandings may diminish the benefits of screening, it is important to determine the efficacy of patient education and to see if it is affected by factors such as ethnicity, preferred language, educational level, ag...

Screening for Hemochromatosis and Iron Overload: Satisfaction with Results Notification and Understanding of Mailed Results in Unaffected Participants of the HEIRS Study

“…Having a variant genotype and slightly abnormal iron levels was equated with illness by some, comprising an additional source of potential confusion in combined genetic and phenotypic screening. A similar pattern was found among HEIRS study participants who screened positive for HH or IO, and completed a comprehensive clinical exam with genetic counseling and a follow-up letter (Walker et al, 2007).…”

“…Walker et al (2007) found that screen-positive participants from different language=ethnicity groups differed in understanding even after postresults genetic counseling. Non-White and=or nonEnglish-speaking groups had poorer understanding of their genotype and iron level implications.…”

Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study

“…79 These results may have important implications for screening studies in which information about genotype and phenotype are communicated to participants. A number of factors predicted lower understanding of test results among participants, including lower education levels, older age, and being non-white and/or non-English speaking 80 ; C282Y homozygotes had the best understanding of genetic results. Thus, explaining aberrant TfS and SF test results and genotypes, and communicating recommendations for further evaluation and the need for screening relatives, require culturally appropriate strategies.…”

Effect of Ambiguous Hemochromatosis Gene Test Results on Physician Utilization

“…(7) In a previous HEIRS study, only 2.1 percent of those with neither genotypic or phenotypic abnormality incorrectly believed that they had hemochromatosis (with 4.5 percent unsure), suggesting that the risk message was clear for the vast majority. By contrast, 9.7 percent of those with a low-risk gene abnormality and normal iron values (similar to our Group 5) incorrectly believed they had hemochromatosis (with 15.3 percent unsure).…”

“…(6) Walker found that, while nearly 90% of participants in the clinical examination phase of HEIRS felt the results letters contained sufficient information, nearly half (47.5%) of the respondents across all genotype/phenotype combinations still had questions after receiving the results. (7)…”