| Title: | Integration of Real-World Data and Genetics to Support Target Identification and Validation |
| Journal: | Clinical Pharmacology & Therapeutics |
| Published: | 24 Nov 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34818443/ |
| DOI: | https://doi.org/10.1002/cpt.2477 |
Publication 10738
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Abstract
Even modest improvements in the probability of success of selecting drug targets which are ultimately approved can substantially reduce the costs of research and development. Drug targets with human genetic evidence of disease association are twice as likely to lead to approved drugs. A key enabler of identifying and validating these genetically validated targets is access to association results from genome-wide genotyping, whole-exome sequencing, and whole-genome sequencing studies with observable traits (often diseases) across large numbers of individuals. Today, linkage between genotype and real-world data (RWD) provides significant opportunities to not only increase the statistical power of genome-wide association studies by ascertaining additional cases for diseases of interest, but also to improve diversity and coverage of association studies across the disease phenome. As RWD-genetics linked resources continue to grow in diversity of participants, breadth of data captured, length of observation, and number of participants, there is a greater need to leverage the experience of RWD experts, clinicians, and highly experienced geneticists together to understand which lessons and frameworks from general research using RWD sources are relevant to improve genetics-driven drug discovery and development. This paper describes new challenges and opportunities for phenotypes enabled by diverse RWD sources, considerations in the use of RWD phenotypes for disease gene identification across the disease phenome, and challenges and opportunities in leveraging RWD phenotypes in target validation. The paper concludes with views on the future directions for phenotype development using RWD, and key questions requiring further research and development to advance this nascent field.</p>
5 Authors
- Jonathan M. Davitte
- Marni Stott-Miller
- Margaret G. Ehm
- Marianne C. Cunnington
- Robert F. Reynolds
1 Application
| Application ID | Title |
|---|---|
| 20361 | Comprehensive Phenotype-wide Association Studies (PheWAS)for Genetic Tool Variants relevant to GSK Drug Targets |
Enabling scientific discoveries that improve human health