Genetic Screening for Gastrointestinal, Digestive Issues – Dr. Steven M. Lipkin

Genetic Testing For Disease

Genetic Screening for Gastrointestinal, Digestive Issues – Dr. Steven M. Lipkin

Steven M. Lipkin, MD, Ph.D., a Medical Geneticist at NewYork-Presbyterian Hospital/Weill Cornell Medical Center in New York City, discusses how genetic testing can be used to find mutations in a patients’ gastrointestinal system, and how this information can be utilized to identify patients at risk or guide treatment. You can learn more about Dr. Lipkin at:
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Question by Joe: What is the difference between gluten intolerance and celiac disease?
I have recently been diagnosed with gluten intolerance but does this mean I have celiac disease? I have always wondered this because after being diagnosed I have heard a lot about gluten intolerance but I haven’t heard much about celiac disease? Is this the same thing? Or are they entirely different?

genetic testing for disease Best answer:

Answer by Shauna
They’re different, but some doctors use the term interchangeably, so you may want to double check with that.

If you were diagnosed with gluten intolerance but weren’t tested for Celiac disease, I would get the celiac test, too – it’s a blood test, and you have to get it before you go gluten free or it won’t test properly. There is no test for gluten intolerance except avoiding gluten and seeing how you feel. And unfortunately, improving on a gluten free diet is what happens with celiac disease, too, so the only way someone knows they are truly gluten intolerant is if they get all the tests for celiac disease, those are negative, and they STILL improve on a GF diet.

4 members of my family are celiacs. One is gluten intolerant. And I want to stress that there aren’t any tests for gluten intolerance, truly. They only just had conclusive proof that it exists and is separate from celiac disease last year. There are some stool tests that claim to test for this, but they can’t indicate celiac disease vs. gluten intolerance, so they don’t distinguish between the two. Some blood tests claim to test for this, but they deal with allergies rather than intolerance.

Celiac Disease is an auto-immune disorder where gluten triggers the body to attack itself. It destroys the villi in the gut and makes a person slowly starve to death. And it can be really slowly – some people have this disease for decades, slowly getting sicker and more exhausted and more and more problems cropping up. It lead to severe vitamin deficiencies that will need to be monitored, along with other conditions that can happen in conjunction with auto-immune disorders. It is genetic, and others in the family should be tested if one comes back positive.

Gluten intolerance is, well…they don’t know. It’s a catch-all term used to mean ‘eating gluten makes your body do bad things.’ It might inflame the intestines and inhibit nutrient absorption, it might give headaches, it might cause eczema issues, it might cause joint pain. All sorts of things. They don’t know what the mechanism is. They don’t know what the results are. They don’t know what the risks are. We may end up discovering that it’s a number of gluten-related problems that have been put under one umbrella, even. It’s just too new to know, yet.

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Cancer Susceptibility: Methods and Protocols (Methods in Molecular Biology)

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Cancer Susceptibility: Methods and Protocols (Methods in Molecular Biology)

genetic testing for disease

Over the past two decades, spectacular advances have been made in our understanding of the molecular genetics of cancer, leading to the pursuit of identifying genes that, when mutated, result in an increased susceptibility to the disease. In Cancer Susceptibility: Methods and Protocols, experts in the field bring together the most recent technological developments for identifying and screening cancer susceptibility genes. Divided into two clear sections, the book begins with gene identification

Cancer Susceptibility: Methods and Protocols (Methods in Molecular Biology)

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