Health care provider awareness and use of genetic testing for HFE-associated hereditary hemochromatosis

Background: Hereditary hemochromatosis (HHC), an iron overload disorder, is associated with low penetrant HFE gene mutations. Although evidence-based HFE testing recommendations and guidelines exist, including a U.S. Preventive Services Task Force recommendation against routine screening in the general population, there are few data describing the use of this testing in clinical practice. We used the 2007 DocStyles national survey to assess awareness and use of and perceived indications for HFE-HHC genetic testing among U.S. health care providers (HPs). Results: The 1500 respondents were 34% family physicians, 32% internists, 16% pediatricians, and 16% obstetrician/gynecologists. Most were white (71%), male (64%), worked in group practices (68%), and had > 10 years of experience (57%). Of the respondents, 68% were aware of HHC genetic testing, and 19% had ordered HFE testing during the past year. Pediatricians and obstetricians/gynecologists were least aware of and least likely to have ordered HFE testing (p<0.0001). Of the 1022 respondents aware of HHC genetic testing, 99% responded that genetic testing for routine HHC screening in the asymptomatic general population is not indicated; however, family history of HHC (72%), and clinical findings such as iron overload or elevated serum iron measures (69%), were identified by a majority of respondents as indications for testing. Conclusions: More than a quarter of respondents were not aware of HHC genetic testing suggesting that educational efforts are needed to ensure that providers are aware of screening and diagnostic testing recommendations and guidelines. Among HHC aware physicians, almost all appear knowledgeable about routine screening recommendations.