Journal Clubs

Dr. Sara Cromer and Dr. David Conti will review the commonly used population descriptors, polygenic scores, and social determinants of health measures, identifying the nuances in measurement and interpretation. They will then turn to analytic and ethical considerations for modeling polygenic risk and SDoH jointly across diverse populations.

Robbee Wedow, PhD, will present and discuss his HGG Advances paper on genetics curriculum to refute genetic essentialism.

Drs. Theodore Drivas and Jessica Gold will discuss a large retrospective study of over 14,000 adults evaluating how race and social determinants of health influence access to adult genetics clinics, genetic testing decisions, and diagnostic outcomes. The paper reveals striking disparities in who is evaluated for genetics care—and who ultimately benefits from testing.

Dr. Noura Abul-Husn and Sabrina Suckiel will discuss healthcare provider experiences returning monogenic, polygenic, and integrated risk results for common chronic conditions in the eMERGE study. Key findings from a cross-sectional survey of study providers involved in result disclosure highlight differences in confidence and perceived complexity across genomic risk types, as well as key considerations and challenges in communicating polygenic and integrated risk scores.

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.

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.

Adam Bates will discuss results from leveraging the All of Us Research Program to study previously identified pathogenic germline variants and their relationship to cancer occurrence. This work highlights the importance of using diverse study populations to make cancer research more broadly applicable.