Keynote Presentation: Enabling Precision Health At Scale For All

The last 20 years have seen an explosion of genetic information and data. New technological advances have made it faster and less expensive to understand the human genomes but most of those resources have focused on northern European communities.

Throughout his keynote speech, Dr. Bustamante elaborates on the major challenge to enabling precision health at a global scale, and the bias between those who enroll in state sponsored genomic research and those suffering from chronic disease. More than 30 million people have been genotyped by direct-to-consumer (DTC) companies and/or sequenced by large biobank efforts, providing a potential mechanism for democratizing access to medical interventions and thus catalyzing improvements in patient outcomes as the cost of data acquisition drops. In this keynote speech, Dr. Bustamante presents a novel geno-pheno platform that integrates heterogeneous data sources and applies learnings to common chronic disease conditions.

He further covers how the SARS-CoV-2 pandemic has differentially impacted populations of varied race, ethnicity and socioeconomic status. His research team leveraged a pandemic tracking strategy in which they sequenced viral and host genomes, and transcriptomes from nasopharyngeal swab residuals and integrated them with digital phenotypes from electronic health records. They demonstrated over-representation of individuals possessing Oceanian and Indigenous American ancestry in SARS-CoV-2 positive populations. This work demonstrated the power of multi-omic pandemic tracking and genomic analyses to reveal distinct epidemiologic, genetic and biological associations for those at the highest risk.

The next phase of this work will leverage clinical-grade biobanking, research and clinical genomics, paired with best-in-class ancestry and genome annotation algorithms towards better understanding the genetic architecture of underserved populations and powering the next generation of precision medicine studies. We are particularly interested in understanding post-infectious acute syndromes including those with neuropsychiatric components such as long-covid and associated disorders.

Learning Objectives:

1. Discuss the need for diversity in advancing the future of precision medicine.

2. Uncover the adverse effects caused by the deficiencies in the approach to drug production today.

3. Explore unique mechanisms for enhancing currently employed biobanking practices.