Tri-Con 2016 Marks New Era of Genomic Medicine
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Furness says: “There is now a much wider realisation of how genomics is revolutionising both diagnosis and drug research. Additionally, as easy-to-use tools, such as our interpretation and diagnostic platform Sapientia™, are becoming available, the barriers to entry are reducing.”
Sapientia supports a more accurate clinical diagnosis for patients with rare diseases by highlighting gene mutations that are associated with disease. It has been clinically validated by NHS Genetics Services and Genomics England.
Sapientia uses a system for annotating genes that was originally developed on the Human Genome Project. It has been further developed to make it easier for non-specialists to see clearly which genes are associated with disease. Linking the clinical phenotypes to resources such as supporting literature will help others diagnose the disease in future.
This Whole Genome Analysis is a great breakthrough.
Until now, genetic testing has been limited to a single gene, or small panels of genes for known mutations. In the US, the American College of Molecular Geneticists has produced a list of only 46 genes on which a clinician can report any genetic abnormalities to patients. These are genes that have known interventions.
The growing knowledgebase of actionable genes being developed with Sapientia is offering new opportunities for diagnosis.
Additionally, the knowledge gained from studying rare diseases is providing a greater understanding of the underlying biology, which will help to reveal new targets for drug development.
Furness continues: “Where previously labs were looking at using multiple single gene tests for diagnosis, now it is quicker and cheaper to use exome or whole genome analysis and the quality of the information that can be extracted is far richer.”
Furness also comments that in the UK the NHS Genetics Services are moving towards exome and whole genome analysis and that Sapientia has been clinically proven to produce information about ‘actionable’ mutations.