Updates on key developments in genomics

An illustration of a saliva sample tube with a red lid and a cotton swab inside the tube. The background is a mid-green colour.

BRCA testing for people with Jewish ancestry

NHS England has launched a testing service for people with Jewish ancestry to see if they carry a potentially harmful BRCA variant
test tubes containing DNA helix

Sepsis – DNA fragments may offer a key to diagnosis

A new ‘bedside’ test that quantifies webs of DNA is now being trialled in the NHS to help identify potential sepsis

NICE recommendations broaden patient access to cancer drug olaparib

The use of the targeted therapy has been expanded to include certain types of breast, prostate, ovarian, fallopian tube and primary peritoneal cancers

How the NHS will embed genomics into pharmacy practice

We take a closer look at the new three-year strategic framework for integrating genomic medicine into pharmacy education and training
Conceptual illustration of neuron cells with glowing link knots in abstract dark space, high resolution 3D illustration

Clinical trials show promise for first ‘gene silencing’ treatment for Alzheimer’s disease

A new RNA-based therapy for Alzheimer’s disease that's in clinical trial phase could be the first of its kind to use ‘gene silencing’ for the condition

How hearing patient experiences levels up genomics training

Incorporating patient voices in genomics education can help healthcare professionals see the human impact of genomics. Here are some examples from our own work

World-first gene therapy trial for Hunter syndrome opens

We explore a new treatment that aims to cross the blood-brain barrier for the first time in Hunter syndrome

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

Your attitude towards genomics: Which classic Christmas character are you?

We frame some perspectives on genomic testing through the lens of popular Christmas icons. A guest written long read by genetic counsellor Dr Jonathan Roberts

A newcomer's takeaways from the Genomics Healthcare Summit

E-learning designer Jakob Whitfield offers two personal takeaways from NHS England’s 2023 summit on genomics in healthcare
A strand of stylised blue DNA on a plain background with a magnifying glass focusing on a section of the DNA strand

Casgevy – how it works

In this week’s article, we revisit Casgevy and explore its utility and application in healthcare
An illustration of a multicoloured DNA strand running vertically down the centre of the image with two hands on either side of it. The hands are wearing blue surgical gloves. One hand is holding tweezers that are gripping the DNA strand and the other hand is holding a scalpel which has sliced the DNA strand.

Casgevy – the first CRISPR therapy

The UK has approved a new type of gene therapy for the blood disorders sickle cell disease and beta-thalassaemia, a world-first using CRISPR technology

RNA in spotlight as RNA research pioneers to be awarded Nobel prize

Two RNA researchers whose work paved the way for Covid-19 RNA vaccines will be awarded the 2023 Nobel Prize

Polygenic risk scores and DTC testing: a problematic pairing?

We explore polygenic risk scores and why their application in at-home genomic testing has been brought into question

Eight things a genetic counsellor may already be doing in your clinic

For today’s #GCAwarenessDay2023, NHS genetic counsellor Lily Barnett explains what you may see from this increasingly important and specialised profession
A graphic of an ear in isolation on a blue background. There are white and grey DNA strands going diagonally across the background

Gene therapy – a new approach for paediatric hearing loss

A new gene therapy is being trialled for children with a rare form of deafness caused by variants in the OTOF gene
A close-up view of a screen with multicoloured graph lines created from the sequencing of dna

The key principles behind newborn genome screening

The Generation Study will explore the benefits and challenges of sequencing the genomes of 100,000 newborn babies
A close-up photo of a baby's hand wrapped around an adult's thumb

Genomics England to launch the Generation Study

This winter sees the start of the Generation Study, which will explore the benefits and challenges of sequencing the genomes of 100,000 newborns
A close-up image of a double helix

Mainstreaming whole genome sequencing: where are we now?

Genomic testing capabilities are advancing in affordability and accessibility by the day. But what is the current trajectory of whole genome sequencing in healthcare?
An illustration of seven test tubes containing blood samples, the test tubes are lined up next to each other. The caps of the sample tubes are pink and the background of the image is blue.

Cell-free DNA – prenatal testing and beyond

Testing for cell-free DNA is growing beyond its current use in prenatal testing, but how else is it used in practice today?