Name
Supporting Rare Disease Clinical Genomics: The future of genotype phenotype data standards & sharing for analysis to improve medical outcomes
Description

With increased use of genetic testing, genomic research and large-scale national genomic initiatives, data on tens of millions of individuals’ genotype-phenotype relationships have been collected with the aim to understand health & disease. Many variants are yet to be classified and validated. The complexity increases exponentially when attempting to associate gene variant function to phenotype. The need to accurately associate variants to clinical phenotype will have a great impact on prevention, accurate diagnosis, and treatment forming the foundation of precision medicine. However, realization of precision medicine relies upon world-wide collaborative sharing of health data which becomes possible with ensuring interoperability and common standards for data format and sharing. As an early adopter of genomic standards, the Congenica genomic analysis platform processed and reported tens of thousands of samples through Genomics England and the 100k Genomes Project. Adopting GA4GH-standards, Congenica enabled this first large national genome initiative with the aim to use clinical genomics for the diagnosis of rare disease. The 100k Genomes Project succeeded by the deployment of the Congenica genomics platform for the NHS’s Genomic Medicine Service consisting of 7 UK Genomic Laboratory Hubs. Congenica aims to continue offering integrated solutions that align with worldwide standards for data format and process to facilitate collaboration and analysis of integrated data sets by offering standards approved by GA4GH. As implementation of clinical genomics continues to grow, there is a great need to capture clinical phenotype accurately in shareable form such as Phenopackets alongside well-characterized gene-variant information. Genotype and phenotype capture and standards driven through the GA4GH consortia will be essential for interoperability and expansion of variant data sets, which in turn will enable platforms like Congenica to deliver on the promise of widely accessible clinical genomics on the way to achieving the promise of precision medicine and improved patient outcomes. Congenica’s committed to contributing their expertise to the development and adopting the outcomes of the GA4GH driver projects for genomic, phenotypic, variant, and annotation standards in the coming years.

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