We have achieved so much since the full human genome sequence was published for the first time, can you believe that was over fifteen years ago this month?

Technology has experienced some remarkable breakthroughs over that time, thus speeding up genomic sequencing and reducing its cost at the same time. We are even able to carry out sequencing using a hand-held device, thanks to Oxford Nanopore.

I mean, within the next ten years there is even talk that “everyone will get sequenced at birth,” explained Dr Sanghera, Oxford Nanopore’s chief executive. 


Should Everyone Have Their Whole Genome Sequenced at Birth?


Right now, however, it is how all the genomic data will be combined with other data and analysed that is causing the most excitement. This has been fueled further by the UK Biobank, who announced this month that it plans to sequence the full genomes of 50,000 volunteers by 2019.

The project will be funded by a £30 million Medical Research Council grant and conducted by the Wellcome Sanger Institute in Cambridge. A consortium of companies, led by Regeneron Pharmaceuticals, has already vowed to read and analyse volunteers’ exome data – a small subset of the entire genome – with each member investing $10m in the project. 

And all this is before we have even taken some time to consider the benefits of Artificial Intelligence (AI). There are hopes that such genomic data, analysed by AI will help speed up the diagnosis of cancers and lead to more targeted treatments. 

Swiss company Sophia Genetics, who has developed its own AI, has been used in the diagnosis of 200,000 patients in more than 430 hospitals across 60 countries. This is a milestone for the company, who thanks to such successes are able to analyse one patient every five minutes. 

“When we launched Sophia Genetics, we had a simple but ambitious objective, to build something that would help better diagnose and treat a maximum number of patients,” explained CEO and co-founder, Jurgi Camblong. “We are thrilled by how rapidly Sophia is being adopted around the world. This illustrates the trust that the healthcare industry has in our technology and the need for a standardised approach in clinical genomics.”


Sophia Genetics reaches a key milestone by helping to better diagnose 200,000 patients worldwide.

This recent news coincides with the UK’s announcement to invest $1.4 billion into AI, reconfirming the importance of this new research and business space. With this announcement, the UK joins other nations such as China and France in the race to become world leaders in AI – with a specific focus on healthcare. 

“We welcome countries’ ambitions to invest in artificial intelligence and help push progress in order for current healthcare systems to advance to the next level – Data Driven Medicine powered by AI. Whilst nations are joining the race to become leaders in this space, it is critical to not work in silos and develop technologies that are already on the market. Instead, it is important to look beyond national borders and work together to build a collective intelligence which can make a real impact on people’s health outcomes,” added Camblong.

Support for this technology comes from a variety of places in the field, but one advocate is genomics pioneer and co-founder and chairman of Human Longevity Inc (HLI), Craig Venter, who wants to go as far as extending a healthy human lifespan, writes the BBC.  “We’re fighting medical tradition where we wait until people are sick before we treat them,” he explained. 

With so many breakthroughs being achievable using AI, we can’t help but look eagerly to the future. What is about AI that you can’t wait for? Let us know below!