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Looking back: Genomics in 2022 (part one)

In the first of our two-part round-up of 2022, we look back at some of this year’s most exciting clinical developments in genomics

Many will agree that 2022 has been a significant year for the field of genomics. Some of the greatest achievements have been made in clinical settings, and have proved that genomics is benefitting an ever-increasing number of patients across the healthcare system. In this, the first of our two-part round-up of 2022, we look back at some of the clinical developments that have been made this year.

Saving sight and hearing in newborns

As we first reported back in May, in the first half of 2022 the NHS launched a new non-invasive prenatal test for retinoblastoma, a rare form of eye cancer that affects newborns. The test identifies babies with a gene variant that causes the cancer, making it possible for treatment to be commenced at the earliest opportunity and thus offering the best possible prognosis. The test only requires a blood sample from the pregnant woman, and can be offered in any pregnancies in which there is a family history of retinoblastoma.

Meanwhile, a rapid pharmacogenetic test for infants in intensive care was developed to help prevent hearing loss without delaying treatment. Gentamycin is an extremely effective antibiotic, but it can cause irreversible hearing loss in those who carry a rare gene variant – around 1 in 500 people. This new test, introduced at three NHS hospitals around Manchester, can deliver results in under 30 minutes, allowing babies with suspected sepsis to safely receive antibiotics within the recommended hour of admission.

Improving efficacy of treatment in stroke patients

It wasn’t just babies who benefitted from advances in pharmacogenomic testing in 2022. As we first reported in August this year, stroke patients at NHS Tayside’s Ninewells Hospital are now being routinely offered a genomic test to make sure their medication to prevent blood clots will be effective.

Clopidogrel is an important anti-clotting medication, but it needs to be activated by an enzyme in the liver. About a quarter of people carry variants in the gene that encodes the enzyme, meaning that their enzyme does not activate clopidogrel; this, in turn, makes the drug ineffective. In order to reduce their risk of further strokes, these patients can be given alternative anti-clotting medication. By offering all new stroke patients this new genomic test, clinicians within NHS Tayside estimate that improved outcomes will be achieved for hundreds of patients each year.

Integrating into primary care

This year saw the publication of results from two studies that have set the wheels in motion for genomics to be integrated into primary care.

The 90S study evaluated the feasibility of integrating whole genome sequencing (WGS) into primary care and how willing patients would be to take part in it. The study performed WGS on healthy patients with the aim of looking for ‘actionable’ variants – that is, variants (including those linked to cancer and cardiovascular disease) whose discovery provides an opportunity to improve patient outcomes through screening, treatment or lifestyle changes.

The study found that over a quarter of participating patients had potentially actionable variants linked to increased risk of cancer or cardiovascular disease, and that over a third had variants that could affect their response to medication. In 2023 and beyond, clinicians working on the study aim to simplify and improve WGS processes to make it suitable for large-volume NHS screening.

While the 90S study looked into the general integration of WGS into primary care, the HEART study took a narrower focus: it looked at how WGS could be incorporated into the process GPs use to assess a patient’s risk of heart attacks and strokes.

In addition to the factors GPs already consider­­ – family history, age, body mass index, cholesterol levels and smoking status – those participating in the study also took a blood sample, from which the patient’s genome was sequenced and a polygenic risk score determined. The result was combined with the other factors to give a picture of the patient’s overall risk.

Of the NHS GPs in North-East England who took part in the study, over 90% reported that this kind of testing could be incorporated into routine primary care; in addition, over 98% of participating patients reported finding the results personally useful.

Check out the second part of this piece for the conclusion to our round-up of 2022, in which we will examine some of the milestones reached this year in the field of genomics research.

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