Forecasting disease intensity through genomic risk

Approximately 60,000 Danes live with chronic inflammatory bowel disease. Some experience limited discomfort, while others go through a debilitating disease course involving surgery and a stoma. Add to this the fear of leaving home due to urgent toilet needs.

One of the major challenges with the disease is that doctors cannot predict what kind of progression the individual is facing. Therefore, many of those affected are either over- or under-treated, and the opportunity to intervene in time, before the intestine is completely destroyed, is missed.

Now, a new Danish study from the DNRF Center of Excellence PREDICT at Aalborg University indicates that it is possible to predict whether a newly diagnosed person is facing 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 Denmark's National Biobank for almost 8,300 Danes with chronic inflammatory bowel disease.

The results were just published in the renowned international journal Gastroenterology.

Today, there is no cure for chronic inflammatory bowel disease. The disease can be controlled with medication, or in some cases by surgically removing the affected section of the intestine. However, many people experience ongoing relapses where the treatment must be changed, and the disease course is very different."

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

She 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 of patients."

Still lacking knowledge of biological markers

The new correlation between genetics and severity is supported by a previous study with the same research group. It showed that a certain gene, HLA-DRB1*01:03, significantly increases the risk that people with ulcerative colitis will undergo major surgery.

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

Therefore, the new results will now be followed up by studies that test 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 contribute to doctors being able to offer more precise treatments in the future, so that more patients benefit from a much milder disease course," added Marie Vibeke Vestergaard.