Genetic Analysis Can Improve Eosinophilic Esophagitis Treatment, Study Finds

According to a story from Science Codex, a study conducted by a team of researchers associated with the Nemours Children’s Health System is emphasizing the benefits of genetic analysis for improving outcomes in patients with eosinophilic esophagitis, a rare inflammatory disease. The study suggests that data from a basic genetic test has the potential to greatly improve treatment success in pediatric patients who are using a class of drugs called proton pump inhibitors.

About Eosinophilic Esophagitis

Eosinophilic esophagitis (EoE), is a condition in which the esophagus become inflamed due to an allergic reaction that involves the activity of eosinophils, a form of white blood cell. Generally, the allergic reaction is triggered by some type of food that the patient has eaten, but it is often difficult to determine which specific food item is the cause. Symptoms of eosinophilic esophagitis include difficulty swallowing, nausea, painful swallowing, heartburn, rings in the esophagus, narrowing of the esophagus, blockage of the esophagus, and vomiting. Current treatments involve medication to suppress the immune response, eliminating known food allergens, and expanding the esophagus. Many people with the condition also have other autoimmune problems, such as celiac disease or asthma. To learn more about eosinophilic esophagitis, click here.

About The Research

Rates of response in children using proton pump inhibitors tends to vary between 30 and 60 percent, which is far from ideal; there is clearly some room for improvement. As it turns out, the study revealed that a number of relatively widespread genetic variants can have a substantial impact on how an individual patient responds to these drugs. More personalized therapies based on a patient’s genetic data could allow patients to respond to treatment more consistently and at higher rates.

The genetic analysis determined that specific dose levels were less likely to work in patients with certain genetic characteristics. The researchers also discovered a specific combination of genetic characteristics that could reduce a child’s likelihood of successful response to proton pump inhibitors by as much as nine times. It is clear from this study that genetic tests could help inform what drugs a patient should use as well as what dose range is most effective for them.

Further study will help pioneer this approach even further by determining how treatment dose should be changed based on a patient’s genetic makeup.

Check out the original research here.


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