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 people don’t know that their parents or siblings or other blood relatives died of, or suffered from, HFE-related hereditary hemochromatosis. Why? Because doctors are notoriously bad at diagnosing HFE-related hereditary hemochromatosis (according to a CDC study, “It took an average of 9.5 years from symptom onset for a patient to be diagnosed with hemochromatosis”).
Did your committee document what percentage of those hundreds of thousands of families in America that carry HFE mutations are aware of this fact? Also how did the committee address the issue of the many people who, for a wide range of valid reasons, have gaps in their knowledge of their family medical history?
B. Re: “have iron overload”
In your version of reality, how would a patient know that they have iron overload? Would they instinctively intuit that excess iron is the cause of their pain and suffering? I assume you are aware that in America today doctors cannot order the iron overload tests unless they suspect you are suffering from iron overload, given that both iron and TIBC were deleted from the comprehensive metabolic panel in 1996 (the damaging effect on incidental hemochromatosis diagnosis can be discerned in historical statistics compiled by the Iron Disorders Institute).
Are you really saying that nobody is allowed to find out if they are an HFE carrier or at risk of HFE-related iron overload until this condition is negatively impacting their health to the point where even a poorly-trained physician is somehow moved to consider that condition?
What was your committee’s finding on the obstacles to iron testing and the current lack of hemochromatosis awareness among doctors? Did your committee consider the billions of dollars that would be saved if people who needed phlebotomies to lower their iron levels got them sooner, rather than later, when the crippling and irreversible damage to joints and organs has already been done?
C. Re: You just don’t know
In our shared reality, we must all admit that we don’t yet know why or when the HFE mutations activate iron overloading; however, if you do know that you have a mutation, then you can watch your diet and lifestyle and get your iron checked regularly. Based on what we do know so far, it is entirely possible that prophylactic lifestyle moderation, like refraining from smoking and excessive alcohol and red meat (changes which have multiple health benefits), may prevent the onset of HFE-based iron overloading.
When a person does know they have an HFE mutation they can insist on an iron test that their doctor may otherwise refuse. Patient initiated iron testing, based on knowledge of HFE status, will almost certainly detect overloading sooner than your average family doctor. So what harm does your committee think it is preventing by keeping people ignorant of the mutation?
D. Re: The deadly HFE legacy
In our shared reality, people inadvertently give their kids hemochromatosis because they don’t know they are carriers. Are you really saying that people must be kept ignorant of their carrier status unless they can prove A or B above? What is your committee’s position on a person’s right to chose not to risk transmission of a potentially deadly condition?
E. Re: hemopause
In the real world, many women with HFE mutation survive the onset of iron loading until menopause, at which point the loading starts. Due to the medical profession’s frequently dismissive treatment of menopausal women, this loading is often not diagnosed until they have suffered irreversible organ damage, condemning them to years of lost work, diminished circumstances, poorly controlled pain, and numerous other harms that society can ill afford.
I have no family history of HFE-related problems but I became the primary care provider for my wife when she was crippled by what turned out to be undiagnosed hereditary hemochromatosis. It is not overstating matters to say that medical ignorance ruined her life. After 10 years of suffering she has still not been able to return to work or claim disability.
That is why I started CelticCurse.org and a Facebook page to raise awareness of hereditary hemochromatosis. It is also why I got tested. That test cost me $99, which thankfully I could afford, even though it meant breaking the laws of New York state to complete the test there without a doctor’s permission, a sad state of affairs that your advice will, I fear, only make worse.
I am further thankful that I do not have any HFE mutations, but I regularly hear from people who do. Many of them have just found out they have the mutation but have already suffered irreversible damage from it. On top of this they must deal with a painful new reality: some of their relatives may have died from undiagnosed HFE-related hereditary hemochromatosis.
If the ACMG would consider re-evaluating its ruling on HFE, I could help put you in touch with victims of HFE mutation and their families. In the meantime, I will continue to recommend HFE testing to anyone who is curious, and proactively urge testing for all women approaching menopause. In my reality, that is the best path to least harm and the best way to minimize death and suffering from hereditary hemochromatosis.