Precision Medicine: proteomics perspectives for large population-based studies

SciLifeLab researcher Jochen Schwenk (KTH) recently published a review article about how the combined analysis of the human proteomes and genomes can enhance the efforts of Precision Medicine, a rapidly growing field of importance for many SciLifeLab researchers. The article summarizes the currently growing knowledge and in-depth studies about the circulating plasma proteome and discusses their potential for advancing biomedical multi-omics research.

Even though modern medicine has evolved exponentially during the last century, it still often comes with one major flaw: Medical treatments, drugs and prevention strategies are all adjusted to suit the “average” person and usually do not take individual variability in genes, environmental factors, and lifestyle into account.

Precision medicine is gaining momentum, as it deals with this issue and is based on tailored treatments for each patient. In order for precision medicine to be even more effective, the protein composition, or proteome of each individual has to be analysed. By analysing proteomes from individuals, larger groups or even entire populations, researchers can work on general prevention strategies based on differences amongst groups.

Efforts of researches at SciLifeLab and the global community have already provided valuable insights into the longitudinal variation of proteins detected in blood, including very recent integrative multi-omics studies of proteins carried out at SciLifeLab and the SCAPIS wellness cohort, among them Mathias Uhlén (KTH), Linn Fagerberg (KTH,), Jochen Schwenk (KTH) and Petter Brodin (Karolinska Institutet).

Finding specific molecular biomarkers can accurately help categorize patients into risk groups for different diseases or treat those with a disease with the best possible drugs. The already vast amounts of data collected about the human genome contains valuable clues about risk factors that are vital when aiming to sustain health and prevent diseases.

Analyzing the proteins circulating in blood has so far proven to be a very attractive way to find these biomarkers, which in turn provides phenotype data representing the current state of wellbeing, from healthy to sick. Such investigations could lead to possible cures along the different steps towards a disease.

“These multidisciplinary efforts can indeed help deliver insights into disease mechanisms and causality, revealing new drug targets for more tailored and effective treatments”, says SciLifeLab researcher Jochen Schwenk (SciLifeLab/KTH).

The efforts of studying the genetic impact on human blood proteomes was therefore recently summarized by Jochen Schwenk, together with collaborators leading in complementary areas of life sciences. In their review, published in Nature Reviews Genetics, the researchers discuss more specifically how combining genomic and proteomic data can create new opportunities for translational science to advance precision medicine.

“Our review provides the community with important insights when using proteomics data generated from blood analysis in combination with human genome sequencing efforts. This can hopefully guide others in their efforts, and enables a more informed use of the multi-omics data. We will have the opportunity to learn much more from large-scale and population-based studies, such as those from the SCALLOP consortium, a consortium that involves many other SciLifeLab researchers. These efforts can reveal new biomarkers, and moreover, point at the mechanisms for different diseases. Already today, we found that 30 percent of the 200 protein biomarkers measured in the clinic have associations to genetics data. Disregarding this link could, in the worst case, lead to the misinterpretation of the detected levels”, says Jochen Schwenk.


Last updated: 2020-12-10

Content Responsible: Johan Inganni(