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.
OBJECTIVE
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.
Walker
Ann P
AP
Division of Human Genetics, Department of Pediatrics, University of California, Irvine, Orange, California 92868-3298, USA. awalker@uci.edu
Tucker
Diane C
DC
Hall
Mark A
MA
Lohman
Kurt
K
Harrison
Helen
H
Harrison
Barbara W
BW
Reiss
Jacob
J
Acton
Ronald T
RT
Adams
Paul C
PC
Diaz
Sharmin
S
Holup
Joan
J
Thomson
Elizabeth
E
Ellis
Shellie D
SD
McLaren
Christine E
CE
D000328:Adult; D003376:Counseling; D005006:Ethnicity; D005820:Genetic Testing; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism*; D007802:Language; D010353:Patient Education as Topic; D010641:Phenotype
D007501:Iron