Applying the Clinical Exome Solution (CES) by SOPHiA GENETICS, we can now test Greek patients for 4.900 genes related to several genetic disorders. The CES bundles the analytical power of SOPHiA Artificial Intelligence (AI) with a knowledge-driven kit. This solution serves as a valuable “tool” for clinicians. Currently, 6-8% of the world population is affected by a rare disease and only 25% of them are accurately diagnosed1.
SCIENCE LABS (a leading genomic analysis diagnostic center in Greece) was awarded a bronze medal, at the Healthcare Business 2017 Annual Awards, for innovative solutions in Medicine, in the presence of hundreds of participants.
This recognition acknowledges the implementation and deployment of the CES by SOPHiA GENETICS. Used for the first time in Greece, this advanced molecular diagnostic application allows clinicians to better analyze the exons of a large amount of genes in a single experiment. Exons are protein coding genomic regions. Even though they represent only 1% of human DNA, they include approximately 85% of disease-causing mutations.
The enormous volume of data and complexity generated by this kind of Next-Generation DNA Sequencing (NGS) analysis creates challenges that complicate routine medical practice. With the help of SOPHiA AI, the CES has overcome these challenges. By processing raw clinical sequencing data, SOPHiA AI identifies genomic variants and supports clinicians to precisely diagnose their patients.
SCIENCE LABS is part of SOPHiA GENETICS’ community of more than 1018 experts (i.e. molecular biologists, geneticists, oncologists and pathologists), in 334 healthcare institutions across 53 countries. This unique approach to knowledge sharing makes the experience of an expert in one hospital immediately scalable for the diagnosis of patients in other hospitals.
The use of artificial intelligence and leveraging knowledge-sharing to a create a collective intelligence is paving the way for the new era of efficient personalized medicine. SCIENCE LABS, in collaboration with SOPHiA GENETICS, is at forefront of facilitating this deployment in Greece.
1. Clinical exome sequencing for genetic identification of rare Mendelian disorders. Lee H, Deignan JL, Dorrani N et al. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.