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One newborn – one genome

Foreseen evolution of genome application. From the reading era (when genome is sequenced and “read”) to the read-write era when the genome is also modified with CRISPR like technologies to the era of Social Genome when a growing percentage of people have their genom sequenced and those genomes can be used to derive community information and deliver community healthcare. In the graphic the red line shows the decreasing cost of sequencing, the blue line the number of genome sequenced and the grey line the number of genomes modified. Image credit: Veritas Genetics.

Since the sequencing of the first genome at the turn of the century quite a few predicted that in a few decades it will become the norm for all newborns to have  their genome sequenced, as blood typing was the norm  (at least in Western Countries). At that time, the sequencing cost, and the time it took to sequence a genome were beyond any possibility of having a mass sequencing but it was expected that both cost will decrease and sequencing time will shorten to the point of making newborns genome sequencing a concrete possibility. The first sequencing took years and cost in excess of 1B$. Today it is a matter of a few days and the cost is below 1,000$ with the expectation to reach 100$ by the end of the next decade (with sequencing in a matter of hours).

If it is not surprising today to predict a time when all newborns will get their genome sequenced at birth, but it makes news to hear  the UK Health Secretary including genome sequencing for all newborns as a goal for the the NHS (National Health Service in UK). This follows the 100,000 genome sequencing objective stated by the Prime Minister David Cameron in 2012 (achieved in 2018) and the current NHS 5,000,000 genome sequenced within the next 5 years.

The evolution towards systematic sequencing of all newborns genome (which in a few decades will translate into having the sequencing of all living people genome!) is important because it is leading toward the third phase in genomics, that of the Social Genome.

As shown in the graphic, courtesy of Veritas Genetics, we started the first age of genomics with the sequencing of the genome at the turn of the century, and in just two decades we have seen technology changing the landscape of sequencing making it cheaper and faster, then we saw the beginning of the second era with the possibility to read-write the genome, an era that opened up -yet unresolved- ethical issues. The writing/editing of the genome is made possible by CRISPR/Cas 9 and its evolution, opening up the (scaring) possibility to design life.

The third era, Social Genome, will be characterised by the availability of millions and millions of genomes that can be used through open source genomic software to explore the life landscape and find out the meaning of genes and their role in defining the phenotype. Whilst in the second era (read-write) we have acquired the capability to change the genotype, in the Social Genome Era the promise is to be able to change (design) the phenotype. We better address the ethical issues before we get to that point. Notice that, at least in principle, having the possibility of changing the phenotype solves the issues we have today in changing the genotype and resulting in unexpected consequences (on the phenotype).

We can expect significant evolution in healthcare, possibly a revolution, by the shift into the Social Genome Era, since genomics understanding will support actionable knowledge, something that has not been possible, in general, so far.

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 Industry Advisory Board within the Future Directions Committee and co-chairs the Digital Reality Initiative. 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.