The field of genomics is advancing at an amazing rate - some may say at the speed of catalytic perfection! The 2024 ASHG annual meeting welcomes what will surely be a hub of innovation and research discovery, and it’s also right around the corner. With anticipation, we’ve compiled a few of the topics and technologies we’re keen to explore that are advancing our understanding of human genomics.

Integration of genomic information into actionable decision-making

Polygenic risk scores (PRS) are becoming increasingly important in predicting an individual’s risk of developing complex diseases. By analyzing the combined effect of multiple genetic variants, PRS may continue to provide useful insights into prediction, prevention, and likelihood of adverse conditions such as heart disease, cancer, diabetes, and mental health disorders. In this vein, the challenges and recent successes in integrating complex genomic data, including pharmacogenomics, to generate actionable insight for clinical practice with an end-goal of precise, personalized medicine will resonate with many.

Within this big topic, there’s a pressing need for big data management as the explosion of genomic data requires modern analysis and computational tools that can handle these data sets from various global collaborations and extract meaningful computational genomic insights. We anticipate hearing about tried-and-true smart genomic data management technologies highlighting updated algorithms, machine learning techniques, and scalable bioinformatic tools from seasoned experts.

Genomic complexity

Grounded in the elegant simplicity of Mendel’s main principles of genetics, thousands of experiments have been performed since, adding layers of complexity to the types of Mendelian inheritance learnt in the classroom. Genetics is complex; complexity modifies the paradigmatic simplicity of inheritance, not to mention the inherent stochastic randomness in the steps beyond genotype to phenotype. Research on evolutionary and population genetics will showcase insights into genetic variation, adaptation, and forces that shape our genomes. Similarly, topics beyond the classical DNA sequences, such as epigenomics, structural variants, and other layers of gene regulation – including the molecule of the year, miRNAs, – will be a focus area for those exploring novel technologies or our most recent understanding of their importance in influencing human development and disease.

Usability and accessibility to genomic tools at the bench

Gene modulation and gene editing technologies have undoubtedly transformed genomic research. With Nobel prizes awarded to the discovery of siRNA and CRISPR in the 2000s, these technologies and solutions will be a focus at ASHG not only for improvements as research tools, but also in the discussion of applicability in clinical research, reach of therapeutic potential, and ethical considerations regarding these powerful tools.

Similarly, not only tools for basic research, but recent advancements in both molecular and cytogenetic detection technologies for biomarker discovery and companion diagnostic testing will be a highlighted topic as translational researchers look for methods being developed for better screening, earlier diagnosis or intervention or complex disorders without monogenic origin, especially in congenital, heritable, or early-in-life diseases.

We are excited to have the opportunity to be a strong promoter or primer for your next synthesis.