A genetic biomarker is described as a known DNA sequence that causes disease or is associated with susceptibility to disease. Using genetic biomarkers to predict the severity of IBD for a person as well as how that person is likely to respond to treatment would tremendously improve our ability to manage the disease for that patient. Precision health is about prescribing an individual patient with the right drug, at the right dose, at the right time. This would allow for earlier intervention and the increased potential to slow progression.
It is estimated around 40,000 people in Ireland have IBD1. It can affect babies, children and adults but is commonly diagnosed between the ages of 15 and 35 years. There are several recognised risk factors for IBD including age, family history and smoking however a complex interplay of genetic, environmental, microbial and host
immune factors may result in the development of IBD2. The influence of genetics in the development of IBD is being studied widely3,4. We now know many of the genes which may cause IBD to develop. We know if you have a positive family history of IBD you have an 8-12% risk of developing the condition yourself5.
The aim in treating IBD is to reduce inflammation in the gut, improve and resolve symptoms, induce and maintain remission and ensure a better quality of life. Once these symptoms are under control and you are in ‘remission’, doctors may prescribe medications which help will keep you in ‘remission’ and prevent you having a ‘relapse’ or ‘flare’ where symptoms may occur again. In order to reduce active inflammation, doctors may prescribe steroids to quickly treat inflammation in the gut. Steroids can be given in a tablet, intravenously (in a drip) or topically (as a cream or foam suppository). Other anti-inflammatory drugs include amino salicylates which are also called 5-ASA’s. 5-ASA’s are commonly prescribed to treat mild to moderate ulcerative colitis and they can be prescribed for long term use to prevent relapses.
Immunosuppressants (eg. Azathioprine and mercaptopurine (6-MP)) and biologic therapies (eg. Infliximab, Adalimumab, Golimumab, Ustekinumab, Vedolizumab) are often prescribed to reduce the activity of the immune system and maintain remission in the long term. These drugs have proven to be very effective in treating IBD long term. However, there are many side effects associated with these drugs, many require intensive monitoring for the patient, and some may lose response to the drugs over time. In some cases, surgery may be required where medication alone is not effective. Genuity Science is examining how our genetics may influence how our body reacts to these drugs and how our genes may predict how IBD disease may development over time.
Inflammatory Bowel Disease (IBD) is a term used to describe two chronic gastrointestinal disorders; Crohn’s Disease and Ulcerative Colitis. Crohn’s Disease can cause small or large patches of inflammation in any part of the digestive tract from the mouth to the anus. Inflammation in Crohn’s Disease can occur deep in the intestinal layers causing abscesses and fistulas.
Ulcerative Colitis causes inflammation and ulceration in the large intestine and rectum only and tends to affect the mucosa (top layer) of the intestines. As a chronic condition, people with Crohn’s Disease and Ulcerative Colitis can have times when their disease is quiet and controlled (remission) or times when their disease is more active and debilitating (relapses or flares).
people with IBD have taken part in this study
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