Black Friday for Genome Sequencing

Genome versus genome analysis. The costs for genome sequencing are falling significantly and the $100 genome might even be in sight. However, the costs for genome interpretation are increasing and new approaches are needed, possibly leveraging on AI. Image credit: ILAE

Illumina changed the approach to genome sequencing pushing its cost to the 1,000$ (psychological) thresholds. The effort for the first genome sequencing cost 2.7 billion $ and took 10 years. By 2007 it was down to 1 million $ and already in 2008 Illumina reported a cost of 100,000$. In 2015 the cost went down to 1,500$ and today is below 1,000$. Hence the new target has been fixed to 100$ sequencing cost.

The 1,000$ price point was considered the gate to personalised medicine, a thresholds of affordability that would move millions of people to have their genome sequenced and as a side effect the availability of a huge, world wide data base of genomes, that could be used as a springboard for genome analyses and interpretation.

That price was going to decrease was clear, that genome sequencing could become a sale pitch for a Black Friday, and so soon, was not part of the agenda.

Yet, this is what is happening right now. Veritas Genetics has advertised a two days sale of genome sequencing dropping its price from 999$ to 199$. This price will get you a long string of letters (some 6.8 billion letters) that could make up for a nice poster to hang on your wall but would be of little use in anything else.

What you are really after is understanding what those sequences mean and more than that the impact of those sequences on your life today and in the future. Even more important would be to understand what you can do, given the letters in your genome, to improve your chances of living a longer healthier life.

All of this falls under the chapter of genome interpretation. Of course the first step remains the genome sequencing but that it the starting point.

Veritas Genomics is looking beyond sequencing and acquired Curoverse, an AI company with a platform supporting processing of petabytes of data, to use Artificial Intelligence to make sense of the growing amount of data harvested by sequencing genomes.

As shown in the graphics the next decade will focus on genome interpretation, with genome sequencing becoming a commodity.

The availability of genome data to carry out correlation and inference is so important that companies like Nebula Genomics (a start up) are offering to sequence your genome for free (or below 100$) if you give them permission to use your data in correlation studies.

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.