An Introduction to Bioinformatics.

Bioinformatics is an incredibly exact, yet complicated science. We wanted to dig deeper into exactly what it is, where it is in development, who’s doing it and what purpose it serves. We’re not biologists, computer scientists or bioinformaticians, but this is a collection of our collective insights into the latest field of study taking the life science space by storm.
 

What is Bioinformatics?

A relatively new field of study, bioinformatics is the point where biology meets computing. It involves the application of computational techniques to analyse the information associated with biological materials and biomolecules on a large scale.

It’s a discipline firmly rooted in molecular biology, helping us to learn more about the building blocks and information that makes us who we are.

Everything about an organism is largely defined by its’ genes which, at their most basic, are pieces of information not dissimilar to computer code. However, as we’ve been able to discover more about this ‘code’, there has been a need for software to read, analyse and decipher the gigantic amounts of information produced.

This is, in essence, what bioinformatics is.

What stage is Bioinformatics at?

The technology is still in its infancy. The first genomes were only sequenced in the 1990’s, and it was this process that created the vast amounts of biological data that needs organising, analysing and interpreting.

We’re now at a point where the amounts of data being generated are so large, it’s tough to comprehend.

According to Illumina, it’s now estimated that advanced genome sequencing and related studies generates approximately 2.5 exabytes of genomic data daily.

In other words, that’s 2 and a half billion gigabytes’ worth of information every day. Simplifying that further, that equates to more than 675,000 pages of text’s worth of information, times 2.5 billion, every day.

The technology is now at a point where interpretation and simplification are the key goals.

Companies are trying to de-mystify this data and make the process of interpreting it more accessible for general scientists, as opposed to specific bioinformaticians.

We’re also starting to see the technology become cheaper and more accessible – thanks in part to the emergence of cloud computing and the ever-falling cost of more powerful processors, which are making processes which previously took months take days or even hours.

At the time of writing, the world record for analysing 1000 genomes belongs to Edico Genome, who did so in 2 hours 25 minutes using their Dragen platform.

As sequencing gets faster, the general bioinformatics market is scheduled to reach $4.1B in value by 2024. Developing new technology in the space is big business, which is why we’re seeing so many companies entering the market.

Who’s involved?  

One of the reasons that this is such an exciting area for those involved is the amount of activity and new businesses entering the market every month, with both huge international businesses and smaller, more nimble players entering the fray.

Looking at the bigger players first,  multinational biotech businesses like QIAGEN, Bio-rad, Agilent, Partek and Illumina (who acquired GenoLogics) have been big names in the space for some time, vying to be the biggest name in the space.

New and smaller companies are continuously entering the mix too. Some of these will ultimately be snapped up (as CLCBio, OmicSoft and Ingenuity Systems were by QIAGEN) and others will look to take the bigger players on.  

The benefits of being a smaller business in any field is that innovation and change is faster to implement; the levels of bureaucracy that exist within multinationals just isn’t there for the smaller players, enabling them to be much more nimble and agile in their movements.

Bioinformatics is very much a global business too. In China, for example, WuXiNextCODE are working towards better precision medicine. Access to slicker interfaces and more accessible technology like the EDGE tool, mean that even areas less typically associated with this type of research like Phnom Penh are becoming increasingly involved in the global bioinformatics conversation.

Companies like Genestack and Genialis are basing their offering around simplicity and ease of use. These businesses are allowing biologists and other researchers to explore their own data and test hypotheses without the need for specialists.

Why Bioinformatics? What’s the end goal?

According to this excellent review paper, the aims of bioinformatics are threefold:

1. Bioinformatics organises data in a way that allows researchers to access existing information and to submit new entries as they are produced/ discovered.

2. The purpose of bioinformatics is to develop tools and resources that aid in the analysis of the collected data.

3. We then aim to use these tools to analyse the data and interpret the results in a biologically meaningful manner, i.e. to help with the diagnosis or understanding of certain diseases or conditions.

A key aim is to be able to create tailored, personalised care for individuals, known as precision medicine. If the three objectives listed above can be fulfilled by bioinformatics, then putting together tailored and more effective treatment plans becomes significantly easier.

The ‘why’ expands beyond just human applications too. NR Gene are a commercially driven organisation who are splitting their efforts between human healthcare and animal and plant genomics. As you’d expect, there has been a major focus on human health within the space but taking a commercially focused look at animal and plant genomics may well prove to be an exciting new area for growth and innovation.

Another ‘why’ is to bring down the cost of processing, mapping and interpreting vast quantities of health data.

The first time the human genome was successfully mapped, it was done so at a cost running into the hundreds of millions of pounds. Today, that same process costs closer to £1,000 and, as these costs continue to fall it will make this technology much easier to implement in everyday medical treatment and care for services like the NHS, in addition to research-focused environments.

As the technology becomes more commoditised, innovation is set to increase, and the dream of precision medicine and tailored care should become ever closer to being realised in future.

From a recruitment perspective, the good news is that if you work in this field then the demand for bioinformatic information is growing at a rapid rate, but the number of specialised professionals isn’t. So chances are, you’re in demand.

Bioinformatics is only going to become more and more essential to modern medicine in all areas, and it’s likely that over the course of the next couple of decades, we’re going to see a greater reliance on it as we move towards a goal of truly personalised, precision care for individuals.