Methods in Applied Genetic Epidemiology 2022

Genetic epidemiology holds immense potential to revolutionise our understanding of human disease aetiology, progression, and prevention. In a recently published editorial in Frontiers, our Managing Director and Chief Scientist, Chris Foley PhD, and Director of Health Data Science, Zhana Kuncheva PhD, discuss the critical developments and challenges in the field. Their editorial, part of the Research Topic “Methods in Applied Genetic Epidemiology,” highlights new methodologies and the growing role of genetics and genomics in uncovering the complexities of human disease.

The editorial emphasises the strides made in investigating the genotype-phenotype association, driven by advances in genome-wide association studies (GWAS) and polygenic risk scores (PRS). These tools allow for a more nuanced understanding of genetic influences on disease. However, significant work remains, particularly in extending these studies to underrepresented populations and improving the analysis of rare genetic variants. A key challenge addressed in the editorial is the need for inclusive genetic studies that capture the full breadth of human diversity.

Additionally, the role of gene-environment interactions is explored as a critical factor in understanding the “missing heritability” of complex diseases. The authors also touch on the transformative potential of multi-omics technologies, which enable the integration of genomic, epigenomic, and transcriptomic data for a comprehensive view of disease mechanisms.

This editorial underscores the importance of continuous innovation and collaboration in genetic epidemiology to unlock the full potential of these scientific advances. Read the full editorial in Frontiers here.