Background

A key area of development at the convergence of the study of biological systems, and the study of software and computer systems; Bioinformatics focuses on the development of software and methods for the use of understanding biological data. New tools are enabling researchers to develop novel methods of diagnosis and treatment in healthcare, as well as teaching us fundamentals of the human body previously unknown.

A Brief History of Bioinformatics

The term has seen large rises in literature since the 1980s upon the widespread adoption of computers; Bioinformatics then boomed in popularity in the late 2010s.[1] We are now in a period of great discovery and invention with the availability to collect and store large datasets; Maturing artificial intelligence is enabling novel methods of analysis and interpretation that were previously unavailable using traditional means; and the miniaturisation of processors allows for greater collection of bio data.

Bioinformatics can be broken down into a number of subdisciplines, each with their unique set of problems and solutions – subdisciplines include: Sequence Analysis; Genomics; Proteomics; and Genetics.

The last 20 years has seen a change in the dynamics within bioinformatics. Figure 1 below shows there has been a decrease in the proportion of research papers published on traditional DNA and mathematical models, and an increase in novel methods such as machine learning and omics – the study of the sum of constituents within a cell. 1(b) shows a normalised view of topics, in which they can be compared to each other regardless of the total number of papers published; Clearly showing development of new areas after the year 2000.

Figure 1 The change in dynamics in Bioinformatics topics [2]

This paradigm shift is known as the post-genomic era – after the Human Genome Project.

Key Developments in Bioinformatics

The Human Genome Project [3] was major technical advancement in the field. Beginning in 1990 and ending in 2003 approximately 3 billion human genome base pairs were sequenced by over 20 universities across the world. The aim being that by identifying all the human genome, researchers would be able to develop new ways of treating genetic disorders and diseases.

Following on from this was The 100,000 Genome Project [4] in which Genomics England studied 100,000 genomes from 85,000 NHS patients affected by rare disease or cancer. These findings have already been used to provide actionable findings that have helped others. Today, cancer researchers are able to sequence cancerous cells and compare results to that of the human genome project; Finding mutations and proceeding to develop genetically targeted medicine.

Challenges and the future of bioinformatics

Due to the pace of innovation in bioinformatics there have been some growing pains, including but not limited to discrepancies and inconsistencies in methodology, especially in the logging of information and data formats. The outpacing of data collection over the ability of hardware and software to analyse this data. Moore’s law states how transistors in an integrated circuit roughly double every 2 years, increasing computer capability; However, sequencing methods are far outpacing this law, leaving the hardware behind and slowing down processes.

New methods of detection and sequencing are being developed. Next-Generation sequencing builds upon the Sanger method in using a massively parallel method of sequencing DNA fragments to bring the time of sequencing down to as fast as four hours, and to sequence up to multiple terabases per run.

What we do know is that the future of bioinformatics will be steeped in innovation. Artificial intelligence is on the rise with use cases in the diagnostic and analytical sectors, targeted drugs are being developed from genetic testing, and detection sensitivity is increasing, finding new biomarkers.

A number of the firms developing the future of bioinformatics include: Bio-Rad Laboratories; Illumina; Qiagen; Triple-Ring Technologies; Infinimmune; Biolinq; Screenpoint Medical.

If your firm is innovating in the field of bioinformatics, or if you are in need of assistance in front of the UK or European Patent Office, Secerna can help you.

How Can We Help Protect Your Bioinformatics Innovation?

Secerna has a team of experienced UK and European patent attorneys in the biological, technical, and computer implemented invention fields working under founding partners Jason Boakes and Charlotte Watkins who, between them have over 55 years in the intellectual property industry. For example, Jason worked on the protection of an invention relating to machine learning algorithms used for diagnosis of disease. Charlotte has worked on the protection of genetic testing and custom assays. Our team can guide you through the intricacies of protecting your computer related invention before the UK or European Patent Office.

If you would like more information about protection of your Bioinformatics, please get in touch with our attorneys.

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[1] Google ngramviewer:Bioinformatics

[2] Wang, J., Li, Z. & Zhang, J. Visualizing the knowledge structure and evolution of bioinformatics. BMC Bioinformatics 23 (Suppl 8), 404 (2022). https://doi.org/10.1186/s12859-022-04948-9. Licensed under http://creativecommons.org/licenses/by/4.0/

[3] https://www.genome.gov/human-genome-project

[4] https://www.genomicsengland.co.uk/initiatives/100000-genomes-project