Protect Genetic Testing: Petition the FDA

by Stephen Cobb on March 16, 2011

Let FDA know you want access to genetic tests

A simple genetic test is all it takes to know if hereditary hemochromatosis, the most common genetic killer in America, is in your genes. Your doctor can order this test or you can order the test yourself, direct from a reputable testing service. But that may change.

The Food and Drug Administration is seriously considering making some health-related genetic tests prescription-only. In other words, you would need your doctor’s permission to get this and other tests. In some cases the results would go to your doctor, not you. We don’t think such restrictions are needed. We think they would be detrimental to the public good and increase the cost of health care.  So we have organized a petition to express these views to the FDA. If you agree, please sign the petition.

Why Consumer Access to Genetic Tests Matters to You

Sadly, many doctors are overworked these days and simply lack the time it takes to stay abreast of the latest developments in genetics. We feel tremendous sympathy for doctors who want to stay informed but simply don’t have the time because hundreds of genetic traits have now been linked to serious health conditions, drug reactions, and medical risk factors. However, many consumers do have the time to explore genetic factors that affect them personally, particularly medical problems that run in the family, problems like hemochromatosis, a leading cause of liver disease, diabetes, joint pain, and heart disease in America today.

Hemochromatosis is a great example of why direct consumer access to genetic tests is so important, and why inserting a “doctors-permission” requirement between gene tests and individuals would be a mistake. Consider these 5 points:

  1. A genetic test is not required to diagnose hemochromatosis. But a genetic test is the only way to know if hemochromatosis runs in the family.
  2. If hemochromatosis does run in your family then family members who are affected can take appropriate steps to avoid long-term damage from iron toxicity.
  3. Taking those steps, like reducing iron intake, can be harmful if you are not at risk for hemochromatosis.
  4. The only way to know which family members are at risk is a genetic test.
  5. Imagine you are part of this family; wouldn’t you like to know if you or your children have any of the genetic mutations associated with hemochromatosis? But when you ask your doctor she says the test is not necessary.

Now let’s say you can go online and order a saliva collection kit for $200. After you mail your saliva to the lab you can get online access to your hemochromatosis carrier results in 6 to 8 weeks, along with a lot of other data derived from your DNA, such as your sensitivity to warfarin or Plavix.

All of this data comes with clearly written explanations of the medical implications and loads of resources for finding out more.

Would you order the test or accept your doctor’s opinion that your hemochromatosis carrier status in something you don’t need to know?

Unfortunately, at CelticCurse.org we’ve heard too many horror stories about doctors not getting patients tested soon enough for genetic hemochromatosis. Delay can lead to needless pain, suffering, organ damage, joint damage, and death. Sadly, America’s doctors are woefully under-informed about hemochromatosis despite the fact that it contributes to more deaths, liver cancers, heart problems, and cases of diabetes in America today than any other inherited genetic condition.

Why You Need to Let the FDA Know What You Think

We became very concerned when we heard about the recent FDA hearings on making health-related genetic tests “prescription-only.” We were saddened to learn that this type of restriction is something the American Medical Association has been lobbying for. So we submitted comments to the FDA ahead of the hearings. We highlighted the case of genetic hemochromatosis. Then we waited to hear the outcome. The news was not good.

The FDA spokesperson indicated some tests would be restricted so that consumers could no longer order them directly. In some cases the person being tested would not receive the results; those results would go to the doctor instead:

The FDA may require some tests to be ordered by doctors, and some results may have to be sent to doctors instead of patients

According to Bloomberg News, after the FDA advisory panel meeting, the director of the FDA office that regulates diagnostic screening tools, Alberto Gutierrez, said:

the FDA will decide, case-by-case, whether to restrict the availability of tests sold by companies such as 23andMe

We think this is just wrong. If the FDA goes ahead, the cost to consumers and the country will be huge. Here’s just one example: Right now at www.23andMe.com you can order a test for $199 that will not only tell you about your genetic status with respect to the hemochromatosis genes, but  also covers Cystic Fibrosis, Gaucher Disease, Sickle Cell Anemia, Tay-Sachs, and a lot of other health-related genetic data. Imagine having to go to your doctor to get “permission” for all of those, probably for about $200 each.

Not that we are saying $199 is cheap, but we are pretty sure such tests will cost more if doctors get involved. And your doctor may not want to get involved. We hear all the time about people who clearly have hemochromatosis themselves, or in their family, but can’t get their doctor to authorize a genetic test.

We know that direct-to-consumer genetic tests need to be regulated, and they are, by the FDA. We appreciate the way the FDA has gone about setting standards for such tests. But forcing us to ask doctors for permission to learn about our own genes? We think that’s wrong.

If you agree, please sign the petition! Then tell your friends and family. If a lot of consumers tell the FDA they want direct access to health-related genetic tests, the FDA will have to take this into account.

{ 3 comments… read them below or add one }

Luisa Handem Piette March 16, 2011 at 10:29 pm

I fully support hemochromatosis genes testing ordered directly by consumers, if they so choose, or by their doctors.

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Steve Tivey February 3, 2012 at 10:26 am

Anyone who is worried about this anywhere in the world should be able to find out whether they have it. I have discovered it through chance and without genetic test would still be worrying.

Reply

Casey Allen June 25, 2012 at 6:45 pm

I have had genetic hemochromatosis all my life. I was diagnosed while returning home from my first year of college. The disease (genetic mutation) nearly took my father’s life so my brothers and I were tested as soon as we were old enough. Neither of my brothers got the disease, but I did. I started receiving phlebotomies soon thereafter. I am now 32 yrs. old. I have been quite diligent with the phlebotomies, doing 500cc per month for the last 4-5 yrs. Before this, I was not so diligent. I feel that I may have done damage to my body, as my transferrin saturation was at one time greater than 97%. I am down to <60% now. The problem is that I am constantly fatigued, in pain and have to motivation or drive to do anything other than lay in bed and try to sleep (which comes only in short intervals, interrupted by pain and suffering. Every doctor I go to treats me as if I am a baby or a some sort of scammer, trying to get drugs… I tell the doctors my symptoms and the difficulties I have with everyday things, to which they usually reply: well, how much exercise to you get? no, that's not chronic it is acute… I love that one…as if I don't know the difference. I am telling them that I always feel this way, yet nothing ever gets done about it and I continue to suffer. Diagnosis is only the first step folks, we need doctors who understand Hereditary Hemochromatosis and who are knowledgeable and compassionate with their treatment…
Thanks for reading,
Sincerely,
Casey Allen
Redding, CA

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