Kyle Retterer, MS, Chief Data Science Officer at Geisinger, will discuss scalable methods for genomic-first ascertainment of rare disorders and the results of applying these methods to a healthcare population of over 200,000 study participants.

November HGG Advances Journal Club presented by Joanna Melia, MD

Yuchen Zhou will discuss a novel method that applies a multimodal AI model to physiological waveforms, like ECGs, to improve the genetic prediction of cardiovascular traits. The presentation will cover how this novel approach leveraged the shared and orthogonal signals in multimodal data and led to better genetic discovery.

Drs. Sharma and Wojcik will present recently published work investigating the role of both genetic ancestry and sociocultural factors when considering the genetic risk for body-mass-index (BMI) in the Hispanic Community Health Study/Study of Latinos. Significant gene-environment interactions persisted in only some subgroups of Hispanic/Latino ethnicity, even after adjustment for ancestry differences, emphasizing the importance of finer-level population descriptors in avoiding spurious findings of gene-environment interactions due to both genetic and sociocultural substructure.

Pauline Lanting, PharmD, will discuss the feasibility of a low-cost, pre-emptive pharmacogenetic passport that could be readily implemented in clinical settings to ensure patients receive optimal drug therapy based on their genetic makeup.