An Overview of the Genomics Revolution
One of the greatest advancements in healthcare this century is genomic medicine. Thanks to scientific and technological milestones spanning three centuries, we are rapidly advancing towards a world in which management of our health is truly individualised.
Some of the key milestones that have brought us to where we are today are: the discovery of nuclein by Miescher in 1869; the discovery of the structure of DNA thanks to the work of Wilkins, Franklin, Watson and Crick (leading to a Nobel Prize in 1962); the development of DNA sequencing by two-time Nobel laureate Sanger in 1977, which led to the Human Genome Project sequencing the first human genome in 2003; and the advent of next-generation sequencing technology (also known as NGS) that offers ultra-high throughput, scalability and speed. The most recent advancement in the field of NGS is long-read sequencing (specifically HiFi and nanopore sequencing), which has been in active development since 2008. Nanopore sequencing has led to the world's first portable sequencer (Oxford Nanopore's MinION), a paradigm shifting device allowing rapid, real-time, point-of-care sequencing of DNA and RNA. The constantly evolving NGS space is forging a path towards ever cheaper, faster and more reliable sequencing, further enhancing our understanding of the role of genetics in disease, and facilitating the genomics – and multi-omics – revolution in healthcare.
But what is genomic medicine and why is it important? As Genomics England puts it, "genomic medicine uses insights from a human's complete set of DNA (their genome) to inform their healthcare, [and] by giving us a window into the molecular differences between people, [it] allows us to pinpoint individual risk of disease and response to treatment". It is a core component of personalised and precision medicine, allowing healthcare professionals to prevent, diagnose, treat and even cure disease in ever more individualised ways, leading to better clinical outcomes, improved population health and more efficient and sustainable care delivery.
Almost all therapeutic areas can be impacted by genetic disease. Cell and gene therapies (CGTs) are a form of genomic and genetic medicine that are already revolutionising the way we address certain diseases. The first gene therapy (Gendicine) was approved in 2003 and by the end of 2023, over 76 CGTs had been launched globally, with over 4,000 CGT candidates in development as of mid-2024. CGTs include technologies such as CAR-T immunotherapy, which has marked a change in the way we treat cancer, particularly haematological malignancies, and CRISPR-Cas9, a simple and very precise gene-editing technology with curative potential across therapeutic areas including cancer, and infectious, autoimmune and cardiovascular diseases. The world's first ever CRISPR-based treatment exagamglogene autotemcel, was approved in November 2023 by the UK's Medicines and Healthcare products Regulatory Agency (MHRA), for the treatment of sickle cell disease and beta thalassemia.
As the genomics landscape evolves at speed, so do the legal and ethical complexities surrounding this transformative field. The potential to reshape human health is enormous, however with this promise comes the responsibility to address the legal frameworks that will govern these innovations and protect the interests of stakeholders, including patients, researchers, governments, and wider society.
