Precision biomarkers

Despite good medical standards, diagnostic procedures for the detection of many diseases are insufficiently up-to-date, as current methods are labor-intensive and time-intensive and provide inadequate sensitivity and specificity. The latest advancements in the field of molecular biology could help overcome these problems.

To this end, at Fraunhofer IGB we exploit the power of next-generation sequencing for the identification of novel biomarkers enabling better diagnosis of diseases such as pancreatic and prostate cancer, COPD or infectious diseases.

Although great progress has recently been made in the personalized treatment of certain tumors due to cell-based therapeutics, cancer still represents one of the main causes of death in medicine just like cardiovascular diseases.

The challenge of early detection

It is becoming increasingly clear that (in addition to the most specific and effective treatment option possible) the earliest possible diagnosis is becoming more and more important. For some of the most common tumor diseases, including breast, prostate and colorectal carcinomas, early detection screenings are therefore routinely offered to help reduce the severity of the disease.

Despite promising possibilities for detecting and removing certain tumors at an early stage, the corresponding examinations require partially invasive procedures that are not only unpleasant but also involve additional risks. This also reduces the acceptance of such diagnostic procedures. In addition, for some of the most severe tumor diseases with an exceptionally poor prognosis, such as pancreatic cancer, there are no corresponding early detection screenings available. There is therefore a considerable need for diagnostic procedures that can reliably detect tumors non-invasively with high precision and at an early stage.

Novel method for diagnosing pancreatic cancer

Building on many years of expertise in the development of non-invasive diagnostics for complex diseases, the In-vitro Diagnostics department at Fraunhofer IGB, in cooperation with clinical partners from the University Hospital Erlangen under the direction of Prof. Dr. Georg Weber and GeneData, a company in the field of bioinformatics, has established an innovative method for the early detection of pancreatic cancer.

This method is based on the analysis of so-called cell-free tumor DNA from the blood of patients. This cell-free DNA is first isolated from the corresponding blood plasma and then examined for certain pathological changes. Tumor DNA often differs from healthy DNA in chemical modifications – known as methylations – at certain positions in the DNA, which we can be identified using high-throughput sequencing.

However, this method can not only be used to differentiate between healthy and tumor patients, but also between different gastrointestinal tumors. Another special feature of this method is the ability to differentiate between malignant pancreatic tumors and inflammatory, non-malignant pancreatitis, which has to be treated completely differently according to clinical guidelines.

Successful technical and clinical validation

As part of a clinical study in collaboration with the gastroenterology department of the University Hospital Erlangen, a technical validation was carried out on blood samples from patients who either had pancreatic cancer at various stages or who were suffering from pancreatitis. Clinical validation was demonstrated in a proof-of-concept study. Using AI-based methods, we were also able to show that the diagnostic procedure can even be used to classify non-malignant preliminary stages in several cases. 

Based on this approach, Fraunhofer IGB is now aiming for translation into clinical routine. In addition, the technologies developed will also be used for other tumor diseases and other clinical indications with clinical collaborators.