Navigating Data Sharing in Research
We will discuss benefits and emerging challenges in sharing biomedical research data. We will draw on experiences from the Electronic Medical Records and Genomics (eMERGE-IV) Network and consider the ethical, legal and social issues that arise.
AI-Powered Genetic Research Through MARRVEL-MCP
Hyun-Hwan Jeong, PhD, will present his AJHG paper on MARRVEL-MCP, an AI-powered computational tool that simplifies genetic variant interpretation using natural language queries. The platform integrates curated biomedical databases with large language models to accelerate rare disease diagnosis and improve accessibility for non-expert users.
RNUopathies: A New Frontier in Genetics
Hector Rodrigo Mendez, MD, will present “RNUopathies: A New Frontier in Genetics,” offering a comprehensive overview of this emerging class of splicing disorders. Building on this foundation, he will discuss his recent findings on how bi-allelic RNU6ATAC variants drive transcriptome-wide minor intron retention and complex multisystem manifestations.
Incorporating Polygenic Risk Scores and Social Determinants of Health Across Populations
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.
Genetics Curriculum to Refute Genetic Essentialism
Robbee Wedow, PhD, will present and discuss his HGG Advances paper on genetics curriculum to refute genetic essentialism.
Exploring Inequities Impacting the Practice of Genomic Medicine
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.
Returning Genomic Risk Results: Clinician Insights
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.
Detecting Rare Genetic Disorders at Population Scale
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.
Multimodal Representation for Better Genetic Discovery from Physiological Waveforms
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.