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Showing posts from July, 2015

HFE testing: an open letter to the American College of Medical Genetics and Genomics

Dear American College of Medical Genetics and Genomics:

According to a recent article on GenomeWeb your organization, the ACMG has declared that: "HFE testing shouldn't be ordered for patients who don't have iron overload or a family history of HFE-related hereditary hemochromatosis." Frankly, this is some of the worst medical advice I've ever seen published, it defies the logic of real life, and does so in a way that reinforces a number of medical stereotypes.

I invite the ACMG to address the following five realities as they relate to the two limited conditions under which your organization would permit people to find out whether or not they are carriers of a potentially crippling and deadly genetic condition, otherwise know as HFE testing.
A. Re: "a family history of HFE-related hereditary hemochromatosis"
In your version of reality, how do people know if they have a family history of HFE-related hereditary hemochromatosis (HHC)? In the real world, many p…