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Clinicogenomics offers life sciences researchers a powerful new tool by linking genomic data to rich, longitudinal clinical information. The life science research community is only beginning to unlock its potential to better understand disease pathways, discover novel therapeutic targets, identify variation in disease onset and progression, and evaluate drug safety and efficacy.

Since the human genome was first sequenced, researchers have sought to use this information in ways that can improve individual and population health. But they soon realized that DNA sequence data alone has limited value when trying to understand the effects of genetic variation on human health.

But clinicogenomics has provided them a path forward. In 2021, human genetics evidence supported 33 of the 50 FDA-approved drugs.[1] That’s about 2/3 of all new drugs approved last year. Human genetics evidence in the context of drug discovery often requires the use of clinicogenomics: the integration of multiple layers of genetic and functional genomic data combined with clinical knowledge about the molecular and phenotypic characteristics of disease.

Available clinical genomics datasets have come a long way, but many still have limitations researchers must consider to ensure any data they use are truly fit-for-purpose. As more life sciences researchers get comfortable with these datasets, we’re likely to see more exciting therapeutic innovations in drug pipelines. Already, researchers using high-quality genomic data — including whole exome sequence (WES) and whole genome sequence (WGS) data from large, diverse patient populations — have pinpointed several specific drug targets and are working to develop potential treatments around them.

For example, oncology researchers have relied on clinicogenomics in the diagnosis and treatment of cancer for several years. In 2017, the FDA approved pembrolizumab (Keytruda®) for adult and pediatric patient use based on the presence of a biomarker rather than a specific tumor site.[2] This decision stemmed from a growing body of evidence that tumors sharing critical molecular aberrations may share profiles of clinical response to therapies, regardless of solid tumor type.

Interested in learning more about how leading life sciences companies are integrating clinicogenomics into their R&D programs? Read this white paper to get an in-depth look into this rapidly evolving field of research.

[1] Ochoa, David et al. “Human genetics evidence supports two-thirds of the 2021 FDA-approved drugs.” Nature reviews. Drug discovery vol. 21,8 (2022): 551. doi:10.1038/d41573-022-00120-3
[2] Health Affairs. Real-world evidence in support of precision medicine: clinico-genomic cancer data as a case study. Last updated May 2018. Accessed March 14, 2022.