Looking back: Genomics in 2023

We take a look through our blog at some of the notable articles of 2023, including a quick look at what happened since then

Genomics is such a fast-moving field that every year is full of exciting new developments. Here we take a look back at just some of the highlights and breakthroughs we have covered in our blog over the course of the year.

CRISPR hits the clinic

In 2023, CRISPR-based genome editing approaches hit some significant milestones in terms of clinical use. In January, we talked about the new type of CAR-T cell therapy which had cured the leukaemia of a young girl. She took part in a clinical trial at Great Ormond Street Hospital, the treatment involved using donor immune cells reprogrammed using a type of CRISPR-guided genome editing called ‘base editing’. This was the first use of this technology in a patient. The TvT CAR7 clinical trial is ongoing.

Later, in November, the UK became the first country in the world to approve a CRISPR-based gene therapy. The UK Medicines and Health Regulatory Authority (MHRA) approved exagamglogene autotemcel, also known as Exa-cel or Casgevy, for use. The drug uses CRISPR/Cas9 to enable people with sickle cell disease and beta-thalassaemia to produce healthy red blood cells. Less than a month later, the USA’s Food and Drug Administration approved the drug for use, with the European Medicines Agency expected to approve it before spring of 2024.

CRISPR-based developments have been happening at an extraordinary pace, especially given that CRISPR-based genome editing was first demonstrated in 2012, and the first scientific paper on base editing appeared in 2016.

WGS in newborn screening and new bioresources

2023 marked the beginning of the Generation Study, a major NHS-embedded initiative looking at widening the use of whole genome sequencing (WGS) in healthcare. This comes after the 100,000 Genomes Project’s successes, including using WGS to provide diagnoses for patients already affected by a disease or condition. In contrast, the Generation Study will use WGS for screening and prevention in participants who are apparently healthy.

The Generation Study, which we discussed in our blog, will evaluate the use of a soon-after-birth WGS test for early diagnosis of rare genomic conditions that affect young children. Its researchers have announced a list of over 200 conditions they will screen for, and they are now preparing to enrol 100,000 participants.

Two notably similar but distinct ongoing projects include the DNA, Children + Young People’s Health Resource (D-CYPHR), launched nationwide this year, and Our Future Health, who recently announced they’re a fifth of the way to their five million participant goal. Altogether, it seems like 2023 was an important year for UK bioresources, which will become invaluable in future research.

Research breakthroughs

While it’s worth celebrating when new treatments and initiatives become available to patients, it is the research that makes it all possible.

One of the more interesting stories in our blog was the discovery of a unique BRCA1 cancer-causing variant that is only found in people with Orcadian heritage. The finding was the result of a partnership between the University of Edinburgh and NHS Grampian’s North of Scotland Genetic Service. Researchers traced the variant, which can now be found in communities as far away as New Zealand, back over 250 years to the Isle of Westray.

Lastly, the release of the Y chromosome’s complete reference genome meant a truly complete human genome was finally realised. The Y chromosome’s DNA sequence was notoriously difficult to piece together because it contains some very tightly packed and repeating sequences – it would be like trying to put together a solid-blue jigsaw with just a low-quality image to work off of. The announcement came from the Telomere-to-Telomere Consortium.

Onwards to 2024

As the year draws to a close, its clear that the pace of genomics has not let up. What might this next year have in store? Return to this blog for frequent genomics and genomic medicine updates from the UK and beyond.

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice.