The TGMI addresses four fundamental questions that need to be resolved for genetic medicine to be appropriately integrated into healthcare.
1. Which of our 20,000 genes are causally associated with human disease?
2. What solutions are needed to ensure large-scale clinical genetic data is analysed and reported consistently, durably and inclusively with historic data?
3. How can multisource molecular and clinical data be best integrated to provide robust clinical variant interpretation at speed and at scale?
4. How are the clinical testing processes in genetic medicine best configured to maximise utility, accuracy, scalability and affordability?
It is universally accepted that genetic information should be integrated into healthcare, where it can be beneficial for people. A genetic diagnosis can be transformative for patient management and prognosis, and can provide opportunities for disease prevention in healthy individuals. Technological advances have made obtaining genetic information fast and affordable. But there remain substantial challenges to the implementation of genetic medicine. Moreover, injudicious implementation has potential to cause serious harm to individuals and to generate considerable, avoidable burdens for healthcare systems.
The TGMI programme brings together the necessary multidisciplinary capabilities and international networks to design, develop, and deliver foundational resources to enable genetic medicine to be safe and effective.