25 Years of Modern Genomics
In December 1999, researchers from the Human Genome Project announced the complete sequencing of human chromosome 22. This marked the first time that scientists had successfully sequenced the DNA within an entire human chromosome, and marked the first concrete step in modern day genomics.
The past 25 years have seen a rapid increase in the capabilities of genomic technologies – what once took years can now be carried out in a lab in just a few hours. DNA sequencing, and the advent of modern genomics, has had a tangible impact on the world around us – from developing precision medicines, to combatting global pandemics. This rate of innovation will continue to increase, but with new and exciting opportunities comes a host of informational, technological and legal challenges.
What is ‘genomics’ and how is it used today?
Genomics is the study of an organism’s complete set of DNA – its genome. Unlike genetics, which focuses on individual genes, genomics analyses the entirety of the genetic material, providing a broader view of how genes interact with each other and influence biological processes.
Rapid advances in genomic technologies, such as high throughput sequencing methods and machine learning powered association studies, have allowed healthcare innovators to develop precision medicines tailored to an individual’s genome, or even screen a person’s risk of developing certain diseases based on their genetic profile so that preventative treatments can be recommended.
At a global level, a genomics-led strategy played a key role in combatting the Covid-19 pandemic so that researchers rapidly sequenced viral genomes, identifying the emergence of new variants and permitting the development of vaccines. At the consumer level, for example, genomic testing services are being made available to reveal an individual’s ancestry with direct-to-consumer genomic testing kits.
What does the next 25 years have in store?
Genomic Medicines
In November 2023, the UK became the first country to approve a therapy based on the revolutionary CRISPR gene-editing technology. The treatment, named Casgevy, is a potential cure for two genetic blood disorders: sickle cell disease and beta thalassaemia. It works by first removing stem cells from the patient’s bone marrow, using a CRISPR tool to cleave the DNA at a specific site which disables the faulty gene, then reinfusing the edited cells back into the patient thus allowing the body to produce functioning haemoglobin. This is a major therapeutic breakthrough, and while the costs are high (almost $1m per dose), there’s no doubt that further genomic medicines, including to treat more complex, polygenic disorders, are on the horizon.
Beyond Pharma
While the healthcare industry has undoubtedly been the home to the highest number of genomics innovations in the past quarter century, the potential applications extend well beyond the pharmaceutical world.
Advances in our ability to accurately predict physiological traits and behaviours from genomic information, facilitated by contemporaneous breakthroughs in AI and machine learning technologies, could potentially lead to ‘polygenic risk scores’ being more widely used in future, for example by the insurance industry or even in decision making for employment, education or the criminal justice system. At the moment, public opinion is split on whether this would be an acceptable use of genomic information or whether it would lead to ‘genetic discrimination’.
What risks will genomics innovators have to grapple with?
Data privacy
The human genome consists of over 3 billion base pairs of DNA. Within an individual’s genetic code could be highly sensitive information, for example indications of predisposition to certain diseases. Innovators carrying out genomic studies have consequently become the custodians of huge amounts of private genetic data. That data does not just belong to the individual, but contains information about their immediate relatives too. Encryption and anonymisation may help to safeguard this data, but with cybersecurity breaches on the rise, genomic information may become a target for bad actors seeking to steal or misuse private information. This risk has already started to manifest itself, with direct-to-consumer genomics provider 23andMe suffering a severe data breach last year which exposed the DNA data of 7 million users. While the current UK Government’s plans to create a ‘single access point’ for researchers to access the genomic data from all UK genomic databanks is an important step in facilitating effective nationwide innovation, it could concentrate this cybersecurity risk to one point of exploit.
Patentability
Protecting the intellectual property in genomics technologies is another key concern for innovators. Patent applications for genomics technologies have been on a steady incline since the mid-2010s, with the USA and the UK being two of the hottest jurisdictions for patentees. While naturally occurring genetic information cannot itself be patented, in Europe the Biotechnology Directive confirmed that DNA which has been removed from the body or produced by a technical process (isolated DNA) with a known function is patentable. Further, the sequencing methods, tools, and even algorithms used to interpret and apply genomic information can also be patentable inventions. Patents in the genomics field are often the subject of European Patent Office Oppositions and litigation in the national courts and more litigation can be expected as new innovations are made and technologies evolve further. As AI and machine learning become further integrated in the field of genomics, for example in drug discovery studies and genome wide association studies, it is conceivable that the patent law framework may need to be adapted to keep up with the raft of technological advances and ensure it continues to represent a fair bargain both for patentees and for the general public.
An inflection point?
It is no doubt that the field of genomics is still relatively nascent in its technological lifecycle. While it’s clear that huge breakthroughs in science and our understanding of the genome have been and continue to be made, the true potential of genomics is perhaps yet to be unleashed. If we were to draw parallels to technologies such as the Web, it seems plausible that an inflection point may soon be reached triggering widespread societal application in ways simply unpredictable and unfathomable to us right now. Innovators at the cutting-edge of the field will have to be sufficiently equipped to deal with the challenges, legal or otherwise, that this new age will bring.
Written by Abraham Darby-Zaier, Associate at Powell Gilbert LLP.
This blog article represents the opinions of the author individually, and does not constitute legal advice or the opinion of Powell Gilbert LLP as a firm.
