The overarching aim of this initiative is to undertake the scientific research, development and dissemination required for large-scale genetic testing to be integrated into mainstream medicine. The TGMI includes four key aspirations:
1. To build a Gene-Disease Map (GDM). This will provide robust, expert-curated information on the links between genes and disease. A beta version of the GDM providing a systematic, top-level review of 19,171 protein-coding genes showing which were known to cause Mendelian diseases in July 2018 is freely available here.
2. To develop a Clinical Annotation Reference System (CARS). This will provide standardised frameworks and tools for consistent annotation and reporting of gene variation.
3. To develop integrated approaches that use multi-source, multi-population data to deliver the fast, automated, large-scale, high-throughput gene variation interpretation required for genetic medicine to work around the globe.
4. To develop and validate flexible processes and pipelines that maximise the research and clinical utilities of genetic testing.