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One baby – one genome

Approximate cost of sequencing a human genome since 2001. Image credit: Wikimedia Commons. Data Source NHS

The cost of genome sequencing has plummeted and it is now reasonable to imagine that every new born child can get her genome sequenced at birth. Actually, it is not even about imagining it: it is time to do this.

In UK the Government owned company Genomics England  was set up to carry out the sequencing of 100,000 genomes of people suffering from a variety of cancers and rare diseases (a disease is defined “rare” if it affects less than 1 person every 2,000, very few but if you do the maths it means  that some 400 million people can be affected by one of these 7,000 so called rare diseases!). The goal was to look for some genetic underpinning of these diseases that would open the door to screening, prevention and eventually cure. The outcome (along with data derived from similar endeavours) was the recognition that 3/4 of these rare diseases have a genome alteration underpinning.

Now the UK Government is funding Genomic England to sequence 200,000 genomes of new born babies. The long term goal is to sequence the genomes of all newborn at birth, thus opening the door to massive screening. In addition, the availability of all these genomes can fuel machine learning and AI systems to further the understanding of the relation of genomic alteration to a variety of situations, including those that seem to have multiple causes, like autism syndrome.

In many countries all new born are tested for blood type at birth. I expect that by the next decade all newborns will have their genome sequenced and that will be the starting data of their personal digital twin.

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.