LABORATORY INFORMATICS GUIDE 2022
UK at the forefront of genomics research
Robert Roe takes a look at genomics research uncovering insights into Covid-19, and paving the way for better cancer treatments
P
atients across the UK will benefit from better healthcare, treatments and faster diagnosis
as the government sets out plans to deliver genomic healthcare. Genomics is the study of genetic
information and can help diagnose diseases earlier and more accurately, reduce some invasive procedures and enable tailored treatments. Building on the success of the 100,000 Genomes Project, the UK government has committed to sequence one million
whole genomes – 500,000 genomes in the NHS and 500,000 in UK Biobank – which will transform healthcare in the UK and create jobs.
In addition, genomics has also been
used to better understand Covid-19 and the variants that have increasingly become one of the biggest concerns of the pandemic. Each variant is made up of a
collection of mutations. The majority of mutations don’t change how the virus behaves. However, some mutations can change the properties of the virus, and potentially give rise to a new variant. Many of these ‘mutations of interest’ occur in the spike protein, which is what gives the virus its ability to target, latch onto and enter the cells that it infects. Working with key partners across the genomics community, the bold new Genome UK implementation plan 2021 to 2022, published in May, sets out 27 commitments to deliver over the next year, including five high- priority actions: faster diagnosis; whole genome sequencing for patients with
rare diseases; engagement closely with different communities to ensure diverse datasets; recruitment of up to five million people representative of the UK population; and to develop global standards and policies for sharing genomic and related health data. Faster diagnosis and treatment
of cancer using genomics through a partnership between Genomics England and NHS England will help researchers and healthcare professionals identify technologies that could be used to provide faster and more comprehensive genomic testing for cancer. Whole-genome sequencing for patients with rare diseases and cancer, as part of the NHS Genomic Medicine Service, will build on the success of the 100,000 Genomes Project, and aims to increase the amount of genomic data available to researchers. The drive for larger and more diverse
datasets from different communities aims to ensure that everyone across the UK can benefit from genomic healthcare and genomic databases that are representative of such a diverse population. This is essential for equitable access to new techniques, such as polygenic risk scores (PRS), which compares a person’s risk to others with a different genetic makeup, and pharmacogenomics, which examines the role of the genome in the body’s response to drugs. Developing global standards and policies for sharing genomic and
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