Advances in Genomics Technologies: Progress over the past two decades has improved our understanding of genetic risk architecture and facilitated the development of polygenic risk scores (PRS) to help predict disease risk based on multiple gene variants.
Advances in Proteomics Technologies: In the last five years, there have been substantial improvements in these technologies. These advancements have increased the precision and scalability of protein analysis, enabling tools like liquid biopsy. This allows for major population health studies and better disease risk predictions by identifying actionable biomarkers and providing new insights into biological pathways.
Significance for the Scientific Community: There is a widespread optimism that protein biomarkers will help bridge the genotype-phenotype gap. This could lead to the creation of new clinical tools and hasten the development of precision medicine.
Focus of the White Paper: This white paper examines the dual approaches of polygenic risk scores and proteomic profiling. Together, these technologies are setting new standards in the early detection and prevention of diseases, promising a new era in personalized medicine through their integration.