How to Identify the Blind Spots in Your Biotech's Genomic Data Before They Cost You a Drug Target

Most drug discovery genomic data comes from a thin slice of the world, and that bias follows every decision downstream.

Your team can run a Mendelian randomization study on 35,000 patients and still walk away with a single signal that doesn't even apply to the population you care about. If your phenotype definitions are fuzzy, more data won't save you.

Erika Kvikstad is a computational biologist who led precision medicine for cardiovascular disease at Bristol-Myers Squibb, working on therapies including Camzyos for hypertrophic cardiomyopathy. She now works independently on genomic data equity, focused on how reference populations shape everything from target discovery to clinical trial recruitment.

You'll get a practical look at how to evaluate real-world data vendors, why heart failure is nearly impossible to define cleanly from billing codes, and where statistical power breaks down even with tens of thousands of patients. Erika also explains how her team used AI to reconstruct missing imaging data and validate cardiomyopathy diagnoses at scale.

This episode covers GWAS studies, Mendelian randomization, UK Biobank, proteome-wide analysis, and the practical gap between biobank-scale data and disease-specific cohorts. It's built for data and analytics leaders working in life sciences who need to understand where genomic bias enters their pipeline, not just that it exists.

Clarification

Around 57:58–58:24, in discussing the proteome-wide Mendelian randomization study, Erika moved quickly between two related findings. BTN3A2 was identified as a candidate associated with ischemic stroke and potential immune-modulatory biology. Separately, single-cell expression data helped contextualize other candidate signals, including some with enriched expression in cardiomyocyte populations. Cardiomyocyte-enriched expression was not a specific finding for BTN3A2.

Chapter Markers

00:00 Whose genome are we designing drugs for

01:34 Erika's path from academic genomics to BMS

03:48 Building the precision medicine strategy at BMS

06:37 Ross shares his own HCM diagnosis