Over half of drug failures in Phase II clinical trials are due to a lack of efficacy. Even worse, one-fifth of the failures are caused by the drug not engaging the biological target in humans, despite it doing so in pre-clinical animal studies. Showing that a genetic variant alters protein function is associated with a human disease or physical manifestation (phenotype) provides a prior evidence that changing the function of the protein will have an effect on that particular disease, even before developing a drug. Specific studies called genome-wide association studies (GWAS) do just this. Focusing on these genetic or protein targets that can be engaged by drugs ("druggable" targets) will in turn increase the success rate of drug candidates, potentially saving tens of millions in development costs. GWAS require genomic data linked to the disease or phenotypic data from the same individual, for many individuals.
The Phen-Gen resource represents the first repository of bio-specimens at NUHS that is collected specifically for genomic analysis and linked to curated phenotypic data in patient Electronic Health Records (EHRs) in a secure computing environment. Phen-Gen is therefore a powerful resource for GWAS and the discovery of disease biomarkers which could lead to more effective strategies for the diagnosis, prognosis and treatment of diseases. It can also enable the opposite of GWAS, phenome-wide association studies (PheWAS), which aim to characterise the links between certain genes (called pleiotropic genes) and the multiple diseases or phenotypes that they influence.
The Centre for Precision Health (CPH) is currently in the midst of a pilot programme to collect 10,000 NUHS patient samples and curate structured and unstructured data within patient EHRs into a common database model. In the future, we hope to expand this bio-repository to include patient specimens and data across all clinical specialties at NUHS. If you are interested to learn more about bio-repositories in general and about Phen-Gen in particular, check out this article.
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