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USPSTF Recommends Against Screening for Hemochromatosis

Asymptomatic people without family histories of the disease probably wouldn’t benefit from screening.

The U.S. Preventive Services Task Force (USPSTF) has been releasing new and updated guidelines periodically (guidelines homepage).

The USPSTF concludes each of its guidelines with a recommendation, graded as follows:

A — The intervention is strongly recommended.

B — The intervention is recommended.

C — The USPSTF makes no recommendation for or against the intervention.

D — The intervention is not routinely recommended.

I — Evidence is insufficient to recommend for or against the intervention.

Based on a systematic review of the evidence of the burden of illness and efficacy of intervention for hereditary hemochromatosis, the USPSTF recommends against routine genetic testing in the asymptomatic general population. This recommendation does not apply to people with signs or symptoms, or to those with family histories of hemochromatosis. Recommendation: D

The Task Force identified fair evidence that hemochromatosis is rare and that a small proportion of people with the high-risk genotype (C282Y homozygosity) manifest disease (2 retrospective cohort studies), and they found poor evidence that early therapeutic phlebotomy improves morbidity and mortality (no controlled studies). Because screening could lead to unnecessary labeling, workups, anxiety, and treatment, the Task Force concluded that potential harms of screening outweighed potential benefits.

Comment: The evidence is weak in all areas required to determine whether a screening benefit exists. Consistent with this level of evidence, the USPSTF’s recommendation against population screening is more definitely negative than the October 2005 American College of Physicians statement, which did not recommend for or against screening (Journal Watch Oct 18 2005). Although early detection and treatment seem logical, hypothetical benefits might not pan out, even when higher quality studies are available. Targeted screening of high-risk groups seems more promising. At the time of publication, the full text of the recommendation statement and the evidence review was available free of charge.

— Richard Saitz, MD, MPH, FACP, FASAM

Published in Journal Watch General Medicine August 24, 2006

Citation(s):

U.S. Preventive Services Task Force. Screening for hemochromatosis: Recommendation statement. Ann Intern Med 2006 Aug 1; 145:204-8.

• Original article (Subscription may be required)
• Medline abstract (Free)

Whitlock EP et al. Screening for hereditary hemochromatosis: A systematic review for the U.S. Preventive Services Task Force. Ann Intern Med 2006 Aug 1; 145:209-23.

• Original article (Subscription may be required)
• Medline abstract (Free)