28 May 2020

Genomics and public health: A patent attorney’s perspective

In this article for Open Access Government, Mathys & Squire partner Craig Titmus turns the spotlight on genomics and public health from a patent attorney’s perspective.

A genome contains the entire genetic code required to build and sustain an organism, and genomics is the study of that genetic code and its function. The essence of genomic research has long been a source of ethical debate, and yet it undoubtedly provides a hugely powerful tool for the understanding and improvement of public health.

More than 40 years have passed since Maxam & Gilbert first published their seminal paper on DNA sequencing (1), and today’s genetic sequencing capabilities are simply staggering. The genetic code is made up of ‘bases’ and there are more than three billion bases in the human genome. Viruses occupy the other end of the spectrum, with genomes around four-six orders of magnitude smaller than humans. It now takes roughly a day to sequence a human genome and costs are heading towards $100. With such high speed and low cost, whole genome sequencing is rapidly becoming the go-to technique for many types of genetic analysis, even when investigators are interested only in a specific region of a genome. Indeed, our overwhelming wealth of genomics information has become a challenge in itself and has been propelled into the world of big data.

Patent applications

As patent attorneys, we are responsible for a considerable number of inventions that rely upon genomic information, and the ever-increasing number of patent applications in this field is a testament to the advances in genetic research.

A major application of genomics has been in the identification of disease ‘markers’, which include genetic changes, or mutations, that cause or correlate with disease. One such example is the ‘BRCA1’ and ‘BRCA2’ (BReast CAncer) genes which normally function in repairing DNA and suppressing tumours. Changes in a BRCA gene can impair its normal function, and so people with a BRCA mutation are more likely to develop breast cancer. There is also a chance that the carrier of a mutated BRCA gene will pass the mutation on to their children. Analysis of the BRCA1 and BRCA2 genes is, therefore, a powerful tool in diagnosing increased risk of breast cancer and tracking the mutation through families.

Curiously, the Supreme Court of the United States held that a patent relating to the BRCA1 and BRCA2 genes was not eligible for patent protection in the U.S. because it relates to a product of nature (2). This was one of several landmark Supreme Court decisions that fundamentally re-wrote the rules of patentability in the U.S, particularly in the life sciences, and the effects of these changes are being felt in other patent jurisdictions such as Canada and Australia. Understandably, these legal changes have reduced the general commercial appetite for diagnostics research and for filing U.S. patent applications, but we would urge innovators not to be dissuaded – we have developed a number of strategies to navigate these rule changes, and continue to secure valuable patent protection for diagnostics inventions across the globe.

Precision medicine

Genomics also plays a central role in personalised/precision medicine, which is frequently defined as providing ‘the right treatment, for the right patient, at the right time’. A patient’s genetic background can impact greatly on how well they will respond to a particular therapy, and ‘companion diagnostics’ make use of this information to tailor treatments to meet individual patient requirements. This type of genetic information is also being used to inform clinical trial design, because enrolling the most suitable patients into a trial helps to maximise the chances of success, whilst minimising the risk of poor patient outcomes.

Filing patents to protect companion diagnostics inventions can be an extremely effective way of extending the scope of protection for a given therapy, because the diagnostics patent may remain in force long after the corresponding therapeutics patent has expired.


Genomic research is also critical in the fight against COVID-19, where whole genome sequencing is already being applied on an unprecedented scale to help understand the epidemiology and spread of COVID-19. Governments across the world have recognised the importance of genomics by providing additional funding, and inter-institutional consortia have been established to share expertise and fast-track research. One such initiative is the new ‘COVID-19 Genomics UK consortium’, which received £20 million investment and is supported by the UK Government, the UK’s National Health Service (NHS), Public Health England, UK Research and Innovation (UKRI), and the Wellcome Sanger Institute, and involves numerous academic institutions.

Genomic research is also vital in the design of vaccines and therapeutics, including against COVID-19. Most vaccines work by mimicking a structure on the outside of a pathogenic virus or bacteria, and these so-called ‘antigens’ enable the body’s immune system to ready itself against future encounters with the same structure, such as when it is on the outside of the pathogen. The shape of these structures is written into the pathogen’s genetic code, and researchers are using this genomic information as a blueprint in the design of new vaccines against COVID-19.

These really are exciting times, at least from a genomics perspective. It is inevitable that our abundance of genomics data, coupled with increased collaboration and capacity to analyse those data, will continue to accelerate innovation and advancements in public health.

This article was first published by Open Access Government in May 2020.


  • Maxam, A. M. & Gilbert, W. A new method for sequencing DNA. Proc. Natl Acad. Sci. USA 74, 560–564 (1977).
  • Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013).