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Francis deSouza

09 February 2023

What is a brief history of genome sequencing and of Illumina’s role in its evolution?

It cost $3 billion to sequence the first single human genome in 1990. When we introduced our first sequencer in 2007, the price was around $150.000. From 2007 to 2023, we brought the price down from that to $200 - which means we have lowered our own prices by 99.9%.This made the genome accessible to the research and healthcare community around the world; today, physicians can use a genomics test to try and match a cancer patient with the best therapy for them, or drug developers like Moderna use genomics to try and develop the next generation of mRNA vaccines. In relation to the latter, they used our technology to understand the genome of the SARS-CoV-2 pathogen and use that to develop their mRNA Covid-19 vaccine. So, by bringing the price of genomic sequencing down, we enabled a much broader access to the genome, consequently leading to a flurry of discovery which resulted in clinical applications and tests that can actually impact patient care.

Will the price-drop in sequencing translate into a price drop in targeted medicine?

I expect and hope so. We will see a greater number of developed therapies for diseases that did not have any prior to the advent of these technologies - the first example coming to mind being several different types of cancer, but also neurological conditions and complex diseases. As we get better at developing and delivering personalized therapies, we should see a price reduction in their cost - especially bearing in mind that we would be scaling up the production of these therapies around the world. 

However, cost will also be reduced from other areas by saving lives. In the U.S. we spend around $30 billion every year dealing with the cost of patients that suffer adverse drug reactions. As we move to a personalized therapy world, we can radically reduce these cases; today, we know as a fact that a third of those costs could be averted only by knowing the interaction between the patient’s genome and the drug. 

What is NovaSeq X and what role does it play in Illumina’s future?

NovaSeq X is a sequencing system that is launching us into the new era of genomics. It brings a big step forward in terms of the power that we have access to, and in terms of how much sequencing we can do in a certain amount of time. It is also a giant advancement in terms of accessibility, in several different ways. Firstly, because it is set to significantly reduce the price of sequencing. Secondly, NovaSeq X is the first high-throughput sequencer that does not require a cold chain to deliver the consumables to run it - meaning there is no need for dry ice or trucks and planes that are capable of maintaining low temperatures. This is not a minor point because, thanks to this, highly advanced sequencing technology becomes available to the developing world, which normally does not have access to a reliable cold chain. Finally, NovaSeq X is the greenest sequencer on the planet, as it vastly reduces carbon footprint and the use of plastic.

You come from the IT industry; what is the main way in which the life sciences industry differs?

Life sciences is hard work for a company - always. This is the case because you are trying to discover, and this entails doing something that has not been done before. Coming from IT, I can tell you that biology is considerably more complicated - arguably more complicated than any other field. Hence, not only one has to provide an invention, but an invention in an environment that is particularly tough. In addition to that, because a lot of the work that we do in this industry impacts patients' lives, the bar for approval is set high - which I deem to be a positive and crucial point. 

On the other side of all of these facts, lies a public that believes - again, correctly in my opinion - that healthcare should be widely available. This pushes and challenges our business models even further - the question now being how can we discover and invent in this complex context, and then make it available widely and cheaply? And that is the question we constantly set ourselves to answer at Illumina.

It does seem like Genomics is revolutionary as few things we have seen before in the field of medicine. What would a world with advanced and widely available genomics look like?

I believe that 200 years from now - if not before - the fundamental element of one’s health record will be their genome. This will set us for our whole life, knowing what we are at risk for, what we should get screened for and how often, what medicines we should be taking, etc. Therapies will be built for one’s own genome. We will move from a world where less than 0.07% of the world have had their genome sequenced once, to a world where the vast majority of the world had their genome sequenced many times over the course of their lifetime, starting at birth. 


Genomics will also play a vital role in fighting climate change.


It will be essential in cataloging bio-diversity around the world, in making sure that we have the right plant for an environment that is getting hotter, dryer, etc. Hence, its impact will be cross-sectional, from climate change and healthcare all the way to computer science - there is even research being done today about how we could use DNA as a storage medium for IT data, given that it is much more efficient than current hard-disks. Nature really optimized DNA to be an incredibly powerful storage medium, to the point that we could fit all of the world’s information on a pick-up truck in DNA format.

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