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Looking back: Genomics in 2022 (part two)

In the second and final part of our round-up of 2022, we look back at some of the milestones reached this year in genomics research

In the first part of this article, we examined some of the clinical developments that have been made in genomics across the healthcare system this year. Today, to close our round-up of 2022, we’ll take a look behind the scenes at some of the year’s most exciting achievements in genomics research.

Lupus: A first

In 2022, for the very first time, researchers identified a gene variant that causes lupus. Lupus is an autoimmune condition that causes fatigue, joint pain and inflammation of certain organs. Like many autoimmune conditions, its causes are generally complex and not well understood, though for most affected people (around 90% of whom are women) there seems to be a combination of genetic and environmental factors at play.

The gene variant in question, which appears sufficient to cause lupus on its own, was discovered in a young patient who was diagnosed at the unusually early age of seven. She had a mutation in the TLR7 gene on the X chromosome, which caused the protein it encodes to be overactive.

The TLR7 protein has known functions in the immune system, including flagging cells containing viral RNA for destruction by other immune cells. In the young patient, the overactive protein was binding to healthy cells, causing the immune system to erroneously attack them.

This finding will not explain how lupus develops in every patient, but it seems that many patients have some overactivity in TLR7 or other proteins in the same pathway. The location of the gene on the X chromosome may also shed light on why women are disproportionately affected.

Cancer: Further developments

Cancer is a field in which genomics is well established thanks to initiatives such as the 100,000 Genomes Project; however, there is still a lot to learn.

New findings this year include significant developments in our understanding of BRCA variants: they are already known to cause breast and ovarian cancer, but there is now more evidence that both men and women with BRCA variants are at increased risk of stomach and pancreatic cancers.

In addition, BRCA2 variants were this year shown to increase the risk of prostate cancer in men. Prostate cancer is a tricky area because unlike, for example, breast cancer, there are no good screening tests available for it. Current tests are either unreliable (the prostate-specific antigen blood test, for instance) or invasive and unpleasant (such as biopsies). However, it was reported earlier in 2022 that a new polygenic approach has been designed that could, in the future, be used to triage patients. This would mean that those most at risk could be fast-tracked for treatment and that fewer patients would need to undergo unnecessary invasive testing.

Covid-19: Still learning

This year, Covid-19 may not have dominated the headlines (or our day-to-day lives) in the way it did in 2020 and 2021; however, the studies set up to help us understand it continue to generate important results.

Genomics has been crucial at every stage of the pandemic. The virus’ genome was sequenced early on, which was a key reason why vaccines could be developed so quickly. Continued sequencing of the virus allowed new variants, such as Delta and Omicron, to be identified and tracked.

Subsequently, we began to see research looking to explain why the severity of illness caused by SARS-CoV-2 was so variable between individuals, from completely asymptomatic to life-threatening. A number of regions of the genome have been found to affect the severity of illness a person is likely to develop when infected with the virus, and results of this type have continued to come out in 2022 – notably in a study from Poland, where vaccine uptake was initially low.

The question of why some people become very ill with Covid-19 while others experience no symptoms at all will undoubtedly occupy the minds of genomics researchers for years to come. However, arguably the most interesting Covid-19 research of 2022 was a study looking at the genomic differences that underpin our response to the vaccination. Developed by the University of Oxford in response to its vaccine trials, the study found that inheriting a specific variant of a human leukocyte antigen gene was associated with higher antibody responses to the vaccine. This study has been lauded for its potential to guide future vaccine development not just for Covid-19, but for other diseases too.

All in all, in both clinical and research settings 2022 was a significant year for the field of genomics – but what does the future have in store? Join us next week as we turn our attention to the new year and lay out some key developments to watch out for in 2023 and beyond.

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