The around 350 million rare disease patients mostly waiting for more than 5 to 7 years before they are properly diagnosed, but approx. 30% will not even see their 5th birthday. It is obviously, we have to speed up the diagnosis. Before we’re thinking about treatment, we have to think about how to diagnose the patient. That’s the first, crucial step opening up for better understanding of the patient’s disease and therapeutic options.
• Opportunities and challenges with clinical Whole Genome Sequencing (cWGS)
• Value of curated digital data
• Re-classification and re-analysis
• Utility of cWGS
Prof. Peter Bauer, M.D., serves as CENTOGENE’s Chief Genomic Officer, where he combines […]