Use of HFE mutation analysis for hereditary hemochromatosis: The need for physician education in the translation of basic science to clinical practice

Background. Hereditary hemochromatosis (HH) is a common hereditary disorder of iron metabolism causing iron overload, organ failure, and malignancy. P reclinical diagnosis using HFE gene analysis followed by prophylactic phleb otomy can completely prevent the disease. Methods. We conducted a mail survey of all registered primary care physicia ns, gastroenterologists, and hematologists in Arkansas (n = 860) to determi ne utilization of HFE mutation analysis in clinical medicine a year after t he new molecular test first became available. Results. Of 346 responding physicians (40%), 71 (21%) were aware of the tes t, 36 (10%) knew that the test was available in Arkansas, and 10 (3%) had u sed the test. One physician had used the test to screen first-degree relati ves of a homozygous HH proband. Conclusions. Because of poor utilization of the test, the discovery of the role of HFE mutations in HH has had minimal impact on clinical care in Arka nsas.