I participated in the session 1,000,000 genome initiative in 2019’s Portugal eHealth Summit.
I discussed the role of AI in the clinical genomics laboratory, and the specific case of the adoption of the AI platform Watson for Genomics at the Centro de Medicina Laboratorial Germano de Sousa, together with the IBM’s Cristina Semião.
The growing demand for large-scale genetic and genomic analyses of patients and tumours in medical care, driven by patient and clinical adoption, is creating a pressure in clinical genomics laboratories, as more and more information needs to be processed into clinically actionable reports. This is where AI can be of great assistance, sorting through the increasingly growing volumes of research and reference data, identifying and organising potential actionable and up to date information in a way that the specialists in the lab can use, interpret and source with confidence.
As is the trend today, AI assists the human experts but does not replace it, as ultimately it is the laboratory expert that needs to answer the phone to discuss the implications of the report of the genomics laboratory with the clinician.
BioData.pt, was also discussed in this session by its vice president, Prof. Mario Silva. I made the point that private laboratories have an interest in collaborating with research infrastructures as BioData.pt. In my opinion, interoperability and federation of well anonymised data is the only way in which we will grow useful reference datasets in genomics and metagenomics that are so thoroughly needed in both research AND clinical practice.