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Genomic medicine is fundamentally altering the way scientists and clinicians understand disease. Incorporating genomic data into disease research is not a new concept. However, advances in automated sample processing, sequencing, and data analysis now accelerate new insights into the causal drivers of disease. Increasingly, researchers are identifying genomic variants in populations which are low-frequency but high-impact with respect to disease. By coupling these findings to clinical information on disease severity and progression, program leads are then empowered to discover and validate new drug targets. And with genomic validation, those targets transition to successful drug development programs at twice the rate of nongenomically validated targets.

Recently relaunched company Genuity Science, a U.S.-headquartered contract genomics and data-sourcing, -analytics, and -insights organization, is on a mission to provide richer, deeper data and novel biological insights to their pharma and biotech partners in drug discovery and development. Through their portfolio of products and services, they enable customers to accelerate decision making across their drug development programs. Expertise in cohort sourcing, next-generation sequencing, and advanced genomic data analysis powers this portfolio; many successful partnerships with pharma and biotech clients of all sizes provide evidence of the utility of this approach.

Genuity Science leads the market with their approach to combining whole genome sequence and deep phenotype data at scale.  Their team focuses on diseases with high unmet need and captures detailed deidentified participant data to connect disease phenotype to whole genome sequence data.  While there are several large-scale genomics biobanks and consortia, often these studies capture limited clinical information to connect the genomic data to disease. As a result, these studies may incompletely report on disease subtypes, and thus the utility of these studies to pinpoint genomic variants that are meaningful drivers of disease can be somewhat limited.

Importantly, data from thousands of participants are needed to identify rare genomic variants. Genuity Science leverages its purpose-built platform to manage, process, and analyze these data at population scale. To go beyond routine analysis, their team also utilizes state-of-the-art artificial intelligence approaches to integrate multiomic datasets and untangle novel disease pathways. Using these tools, novel driver genes are identified and placed in the context of biological pathways to inform the client’s discovery and development pipelines.

Genomic approaches in drug development aren’t limited to target identification. Late-stage attrition of drugs in development due to poor efficacy at the target remains the largest risk to drug development programs. Improved target validation approaches can help derisk a pipeline as can better biomarker screening. Identifying relevant disease or response-to-treatment genomic biomarkers helps guide translational researchers to select the right patient population for their clinical trials. To meet this need, Genuity Science also sequences clinical trial samples for clients and offers pancancer biomarker screening using the Illumina TruSight Oncology 500 (TSO500) assay. These tools complete the genomic toolkit and enable pharma and biotech companies to go from data to insight faster.

Genuity Science is building partnerships around difficult-to-treat common diseases such as nonalcoholic steatohepatitis, heart failure, and multiple sclerosis. These diseases have limited treatment options for most patients, and new genomically validated drug targets are needed. Genuity collaborates with leading experts in each of these disease areas to recruit study participants.  “Our clinical collaborators are one element which sets us apart—these relationships allow us to deeply understand a disease and ensure we’re collecting the right data to unlock new insights,” says Anne Jones, PhD, Chief Operating Officer at Genuity Science. With dozens of drug targets identified, and more to come as the dataset grows, Genuity believes it has the right approach to accelerate the use of genomic insights in drug development across a broad spectrum of human disease.


To learn more about the research, clinical partnerships, and customer relationships Genuity Science is developing around the globe, read about them at www.genuitysci.com.


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