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    Directions for clinical practice improvement in HFE gene mutation testing

    Access Status
    Fulltext not available
    Authors
    Gillett, M.
    Marmotte, Cyril
    Ravine, D.
    Vasikaran, S.
    Date
    2007
    Type
    Journal Article
    
    Metadata
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    Citation
    Gillett, Melissa J. and Mamotte, Cyril D. and Ravine, David and Vasikaran, Samuel D.. 2007. Directions for clinical practice improvement in HFE gene mutation testing. Medical Journal of Australia 187 (6): 342-344.
    Source Title
    Medical Journal of Australia
    Additional URLs
    http://www.mja.com.au/public/issues/187_06_170907/gil11340_fm.html
    Faculty
    Division of Health Sciences
    School of Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/32848
    Collection
    • Curtin Research Publications
    Abstract

    Objective: To audit the clinical indications for HFE gene mutation testing in a consecutive series of requests.Design: Retrospective audit of reasons prompting 187 HFE test requests received between June 2003 and June 2005, by examination of the request form, hospital notes (when available) and, when required, information from the referring doctor.Setting: A tertiary care public teaching hospital laboratory, Perth, Western Australia.Main outcome measures: Reasons prompting requests for HFE genotype testing and compliance with accepted clinical indications (biochemical evidence of iron overload on repeated samples, or a first-degree relative with either haemochromatosis or a C282Y mutation).Results: Insufficient clinical details in requests prevented the inclusion of interpretive comments in HFE genotype reports in 70 of 187 cases (37%). Re-evaluation after collation of the missing details for all but seven requests revealed that 103 of the 180 auditable requests (57%) had been prompted for reasons other than biochemical evidence of iron accumulation or family history.Conclusions: A substantial proportion of HFE genotype test requests are made for inappropriate reasons. Clinical practice could be improved by educating doctors on the practical utility of this genetic test and by laboratories taking steps to secure the clinical information needed to include appropriate interpretive comments in their reports.

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