A new dawn of the genomic age: five areas set to be transformed in 2023

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2022 was a banner year for genomics. In March, the collaborative T2T consortium published the first complete telomere-to-telomere sequence of the human genome, filling in the last 8% of the 3 billion base pairs that make up our DNA. And in the UK specifically, genomics remained high on the national agenda, with several significant government programmes and investments announced – including the Newborn Genomes Programme in healthcare and the Precision Breeding Bill in the agricultural sector.

Such innovations are driven by the rapid evolution of genomics technologies that has taken place in recent years. Both long- and short-read sequencing today is faster, more affordable, and highly accurate, providing researchers with deep insights to fuel research. 2023 is set to usher in a new era of genomics, and here are five areas where we should see significant advances.

1. More human genomes sequenced than ever before

The research community is beginning to explore the applications of local, population-specific genome assemblies in improving our understanding of many diseases. We are already seeing an increase in projects exploring population genomics in Africa, the Middle East, and Asia, with initiatives including the GenomeAsia100K Project and the Genome Aggregation Database focusing on capturing genetic data of non-European individuals. By sequencing genomes of underserved populations, genome banks of people outside Europe and North America will bring new insights into population dynamics, health, and evolution. For example, pilot data from the MHC Diversity in Africa Project has already highlighted the breadth of genetic diversity in Africa – with individual villages having greater genetic diversity than that seen in all of Europe.

2. Understanding individual drug reactions and metabolism

Pharmacogenomics is emerging as an important area. Genomic insights will increasingly be used to reduce the hundreds of millions of pounds wasted administering drugs that are ineffective due to an individual’s genetic makeup. A 2022 study from the Royal College of Physicians and British Pharmacological Society demonstrated the potential of pharmacogenomics, with scientists identifying the genetic cause behind an individual’s drug response for over forty medicines. For example, the commonly prescribed pain relief drug codeine is not effective in around 8% of the UK population. Moreover, research has shown that genetic testing can reduce adverse reactions to drugs by nearly one third. Advances in genomic sequencing will drive further progress, by enabling researchers to gain insights that were not previously possible because of difficult-to-sequence pseudogenes.

3. A deeper understanding of cancer biology

Cancer is a disease of the genome, and genomic sequencing will play a central role in allowing us to better understand its complex biology and progression at a molecular level. This includes uncovering novel isoforms, fusions, and structural variants – the main drivers of cancer. The combination of advanced long- and short-read genomic sequencing technologies holds great promise for precision oncology, and in the development of mRNA vaccines for certain cancers. Long-read sequencing machines now deliver higher throughput and affordability, bringing us closer to being able to integrate accurate long-read data into cancer research at scale. Advances in the sensitivity and specificity of short-read sequencing will also accelerate research into genetic variants and drive the development of diagnostic tools that will improve therapy selection and recurrence monitoring.

4. Protein prediction algorithms will reach their potential

Proteomics has long been hindered by inaccurate or incomplete RNA sequences – with resultant predictive models built from RNA proving inaccurate. Just one mutation can lead to a complete change in protein formation. So, when it comes to proteomics, accuracy is vital. Now, with highly accurate RNA sequencing, researchers will be able to overcome the “garbage in, garbage out” issue that has hamstrung structural biology research to date. As a result, the huge investments into protein-prediction algorithms such as Google’s AlphaFold and Meta’s ESMFold will start to pay off over the next 12 months. With accurate RNA sequences “feeding” these tools, research teams will have more confidence in the protein structures produced – opening the door to advances in biological research.

5. Precision breeding will reach the UK

Outside of human genomics, in agrigenomics, the strong scientific evidence underpinning precision breeding is almost certain to lead to passing of the Genetic Technology (Precision Breeding) Bill in 2023. The bill already had its second reading in the House of Lords and public perception of the bill has been so far positive. Next year will likely see the first commercial projects employing precision breeding, particularly focused on developing resilient, higher-yield and drought resistant crops. With its already strong genomics foundation, the passing of this bill will cement the UK as a world leader in genomics. We can expect the UK’s agricultural sector to gain a head-start on the European Union, which is likely to follow suit with similar legislation.

New genomics technologies offer huge opportunities in advancing the health of humans, animals, and the planet. But for the promised benefits to come to fruition, researchers must be armed with quality data. Fulfilling the promise of genomics depends on having the most accurate and complete picture of genetic variation as possible. Only then can scientists uncover the complex and unique regions of the genome that, until now, have been hidden, and use these insights to accelerate scientific discoveries we can trust.

About the author

Neil WardNeil Ward is VP and general manager for Europe, Middle East, and Africa at PacBio. Ward is a genomics industry veteran with more than two decades of global experience. He has a passion for the role genomics can play to better human health, and he believes that this can be achieved by accelerating the utility of in-depth, highly accurate genomic applications. In his various commercial roles, Ward has served as a key contributor to many of the world’s largest genomics projects, including Genomics England’s 100,000 Genome Project, the Estonian Genome Project, and the whole genome sequencing of the 500,000 UK Biobank samples.