Lecture by Dr Craig Venter, first to sequence the human genome, and member of the Molecular Frontiers Scientific Advisory Board, at the Molecular Frontiers Symposium "On Human Origins and the Future of Humanity", at Lund University April 18-19, 2024. The symposium was co-organized with Lund University and the Royal Physiographic Society of Lund.
ABSTRACT:
It is now 24 years since my team sequenced the first human genome and unfortunately other than improved DNA sequencing technology little has advanced our fundamental knowledge of how our genetic code determines our phenotypes, disease risk, behavior, and personalities. The practice of clinical medicine is based on resolving symptoms which is often too late or very expensive for long term survival. Due to over application of CT scanning techniques starting in the 1970’s which could not resolve tumors from cysts it became standard teaching in medicine that tests on asymptomatic individuals was unethical due to the expense and trouble of resolving “incidentalomas”. Ten years ago, I started a major program to determine comprehensive phenotypes along with detailed genome analysis on the same individuals. Advanced phenotypic screening involving new MRI algorithms, whole body quantitative MRI, comprehensive metabolite screening, and advanced cardiac testing coupled with human genomics has yielded clinically significant findings in about 50 percent of “healthy” asymptomatic individuals in over 7000 tested to date. This advancement relies upon accelerated discovery pipelines driven by the generation, integration, analysis, and interpretation of multimodal clinical and multi-omics data. For imaging analyses, we leverage newly developed highly sensitive ML/AI technologies for automated analysis and quantification of MRI scans. This includes fully automated segmentation of all major organs from whole-body scans, subregional segmentation of brain scans. Improved early detection of solid organ tumors, and quantification of tissue parameters, including liver and intramuscular fat. Incidentalomas have been essentially eliminated from our non-invasive testing. I will discuss the health and economic implications of our new approach.
28 сен 2024
