Contribution For Pharma

Due to our geographic location in Miami, FL, much of the sequencing data generated will be from Hispanic patients with origins from Latin America (LATAM). All data from raw data files to tertiary analysis will be stored and assessed for population-specific novel variants as well as immunotherapy biomarker data that may provide useful insights for drug discovery.

A key aspect of our mission is to facilitate the recruitment of patients for clinical trials. By combining patient electronic health record (EHR) data and sequencing data, we will be able to identify patients that might be suitable for clinical trials based on variant data. This unique approach will facilitate clinical trial patient recruitment and drug discovery.

Common variants occur in over 5% of the population; however, these tend to be condition-specific and account for only 5-50% of the disease's heritability. On the other hand, genetic variants that occur in less than 5% of the population may be disproportionally important in the risk of getting a disease and drug effectiveness. Rare variants tend to be population-specific, which is why representation of different ethnic minorities matters.

In human genomics, Genome-Wide Association Studies (GWAS) have long been a cornerstone of research, but data has consisted of predominantly European populations. At our forefront, we aim to bridge this gap, by recognizing genetic diversity present in different ethnic groups, thus improving research that can accelerate drug discovery and development.

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