Genome First. Last. Fast: the One Step Approach to Genetic Testing
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
Dr. Peter Bauer
Dr. Peter Bauer serves as CSO, combining clinical and medical understanding in genetic testing with an excellent knowledge of the latest scientific developments, based on his extraordinary experience, especially in high-throughput genetic testing using next-generation sequencing.
Peter Bauer received his board certification in Human Genetics in 2006 and headed the molecular diagnostic laboratory at the Institute of Medical Genetics and Applied Genomics at the University Hospital Tübingen. Moreover, he is Vice President of the German Society of Neurogenetics (DGNG). Peter has authored more than 140 publications in neurogenetics, oncogenetics, cardiogenetics and sequencing technology.