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Personal Digital Twins: Digital Phenotype

Our phenotype is based on much more than the expression of the genotype. The whole set of “omics” is involved. Personal Digital Twins can be used to express the Deep Phenotype in a Digital Phenotype to support precision healthcare. Image credit: G. Fagherazzi et al

To what extent can we model a human body? We have the capability to sequence a whole genome at an (almost) affordable cost and that genome, some 3GB of data is what we are, or is it? Well, it turns out things are much more complicated. Think about the genome (DNA sequence) as a master plan that an architect has prepared to give the constructor the instructions of how to build the building.  The actual masons will receive these instructions (handed over through mRNA). These are very basic instruction to build the bricks (proteins). The timing and the interaction among these proteins is going to guide the construction.

To really work out the building (our body) we need the genome (genomics), the instructions sequence (transcriptomics), the proteins actually created (proteomics) and the way these are interacting “in vivo” (metabolomics). All these “omics” are required, and then some more (as I will address in the next (more futuristic) post in this series.

All these data, and their interpretation (information) can lead to a digital description of our body and its working: the digital phenotype. One of the big challenges, and hurdles, that has been facing biologists is to understand the connection between the genome and the phenotype, how a difference in the genotype lead to a difference in the phenotype and the other way round: how a given phenotype connects to a genotype.

The first, genotype>phenotype, is important to:

The second, phenotype > genome, is important to:

We are seeing tremendous progress in all of the above fields of application, with better screening tools (less invasive. more accurate and more affordable). Artificial intelligence is playing a major role in this rapid evolution by allowing the (automatic) learning sifting through millions of genomes and health records (soon to be in the billions).

Personal digital twins can become a crucial tool in the second part of this decade to mirror the phenotype (digital phenotype) thus enabling the person to be aware of specific risk, adopt specific behaviour, and enabling the doctor to provide personalised cure, even simulating the cure on the personal digital twin before taking the decision on the cure.

It is no longer a question that we will be shifting from statistics based healthcare to precision, personalised healthcare, the question is when precision medicine will take the lead. Most likely in the next decade.

The road ahead is still long and winding. I explicitly mentioned autism because of its complexity. There are now some hundred genes that are -probably- involved in autism and a subset of these have been identified has playing a major role. It is not just about these genes, it is about their expression and when this is happening. New technologies allows the development in vitro of neuronal tissue, organoids, letting researchers to experiment the relation between genotype and phenotype. Most recently this has allowed the simulation, in vitro, of genetic disorder leading to brain circuits found in ASD (autistic spectrum disorder).


About Roberto Saracco

Roberto Saracco fell in love with technology and its implications long time ago. His background is in math and computer science. Until April 2017 he led the EIT Digital Italian Node and then was head of the Industrial Doctoral School of EIT Digital up to September 2018. Previously, up to December 2011 he was the Director of the Telecom Italia Future Centre in Venice, looking at the interplay of technology evolution, economics and society. At the turn of the century he led a World Bank-Infodev project to stimulate entrepreneurship in Latin America. He is a senior member of IEEE where he leads the New Initiative Committee and co-chairs the Digital Reality Initiative. He is a member of the IEEE in 2050 Ad Hoc Committee. He teaches a Master course on Technology Forecasting and Market impact at the University of Trento. He has published over 100 papers in journals and magazines and 14 books.