You have probably heard talk of bioinformatics - it is an increasingly popular field of research – but do you really know what it is, and how it is affecting research carried out in your area? In short, bioinformatics is about applying statistical and computational techniques to the analysis of biological systems. This is of particular interest in relation to the genome, where a growing number of academics and companies are interested in the applications of genetic analysis in the fields of clinical care, digital health, and personalised medicine.
Since the completion of the Human Genome Project in 2003, a number of projects have sought to sequence the genomes of large numbers of individuals in order to better understand the variation in genetic information across populations, and how it is linked to the different characteristics of individuals. For example, in 2012 the UK government announced the 100,000 Genomes project, administered by Genomics England, which aimed to sequence the genomes of 100,000 NHS patients. The project focussed in particular on individuals with rare diseases or conditions, and was completed in 2018.
Although around 99.9% of human DNA is identical between individuals, analysing the possible interactions between variations in the remaining 0.1% still represents a daunting problem. Analysing these data is the focus of the rapidly growing field of genomics, a subfield of bioinformatics specifically concerned with the analysis of whole genomes. Falling costs of genome sequencing, and huge increases in computing power over recent years, have made it possible to analyse genetic data on a scale not previously envisaged. Sophisticated statistical tools are used to analyse correlations between variations in an individual's DNA, and their physical characteristics. The results can provide powerful insights into how these variations affect risk of disease or response to particular stimuli or drugs.
These insights are of particular interest to pharmaceutical companies and health care providers. The response of an individual to a particular drug or treatment is often difficult to predict, and a large amount of time and money is routinely wasted in finding which treatment option is most effective for a given individual. Genomics has the potential to much more accurately predict an individual's response based on their genetics. This could revolutionise care by allowing health service providers to give patients highly personalised and more effective treatment.
And there is plenty of work going on in this field right here in the UK. For instance, the world's largest health-focused big data institute opened in Oxford a few years back. This encompasses the aptly named Big Data Institute (BDI), which brings together researchers in genomics, statistics, health data and other related fields. The BDI is already working in partnership with Novartis, for example, to bring forward various genomics-related programs.
A challenging problem in the genomics field, though, is the accurate and reliable identification of correlations between genetics and physical characteristics. The interactions between different regions of the genome are complex, and the effects of any individual genetic variation may be small – this means you may only detect a physical difference by looking across a range of small genetic variations. This type of problem lends itself to sophisticated statistical algorithms, and computational analysis. A lot of work is being invested in developing new genomic algorithms and techniques.
Protection for the tools and algorithms that companies develop is very important to allow them to commercialise their ideas, encourage investment, and continue developing new and improved techniques. There is a common misconception that this type of invention, typically implemented in software, is not eligible for patent protection. In fact, the European Patent Office, and other offices around the world, routinely grant applications for new technical software inventions. These can provide valuable protection for companies working in this sector.
Originally published 14 January 2021
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