Prediction of disease intensity through genomic risk

About 60,000 Danes live with chronic inflammatory bowel disease. Some experience limited discomfort, while others go through a debilitating course of illness that includes surgery and a stoma. Add to that the fear of leaving the house due to urgent toilet needs.

One of the biggest challenges with the disease is that doctors cannot predict what kind of progression the person will face. As a result, many of those affected are either over- or under-treated, and the opportunity to intervene early, before the gut is completely destroyed, is lost.

Now, a new Danish study from the DNRF Center of Excellence PREDICT at Aalborg University shows that it is possible to predict whether a newly diagnosed person faces a severe disease course at the time of diagnosis.

The researchers found that people with a higher genetic risk of developing the disease also have a greater risk of experiencing a severe course of the disease.

One of the first steps towards personalized treatment

The study was conducted by combining national registry-based data with clinical data and material from the Danish National Biobank on nearly 8,300 Danes with chronic inflammatory bowel disease.

The results have just been published in the prestigious international journal Gastroenterology.

Currently, there is no cure for chronic inflammatory bowel disease. The disease can be controlled with medication or in some cases with surgical removal of the affected part of the intestine. However, many people experience ongoing relapses where treatment needs to be changed and the course of the disease is very different.”

Marie Vibeke Vestergaard, Lead Study Author and Research Assistant, Aalborg University

He added, “We really lack a reliable clinical tool to choose the most appropriate strategy for the individual. The new findings represent some of the first steps towards truly personalized treatment for patients.”

There is still no knowledge of the biological indicators

The new association between genetics and severity is supported by a previous study by the same research team. It showed that one particular gene, HLA-DRB1*01:03, significantly increases the risk of people with ulcerative colitis undergoing major surgery.

As mentioned, the two studies are some of the first steps towards personalized treatment, but there is a need for even more knowledge about the biological markers that are critical for preventing and orchestrating the progression of the individual disease.

So the new results will now be followed by studies testing which medication and treatment strategy would be best for which subgroup.

“We know that genetics is only one of many factors that play a role in the development of the disease and its severity. Therefore, we will also continue our research. Hopefully, the results will help doctors to be able to offer more precise treatments in the future, so that more patients can benefit from a much milder course of the disease,” added Marie Vibeke Vestergaard.