Updates on key developments in genomics

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
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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?

Researchers devise single test to rapidly pinpoint a fever's cause

One test looking at many possible causes of a fever could help clinicians quickly diagnose very unwell children
Microscopic view of multiple chromosomes.

Sequencing the Y chromosome - five things we now know

After years of research, a fully annotated sequence of the human Y chromosome has been published. We celebrate this breakthrough with a few key facts

Children at centre of new genomics health research programme

New genomic bioresource D-CYPHR seeks to decode the DNA at the heart of childhood disease
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The role of genes in susceptibility to skin cancer

The UK is no sun-drenched paradise, but skin cancer is common among the population. As summer ends, we consider new research that may offer an explanation as to why
An series of icons, each in an individual hexagon an drepresenting different aspects of genomics research overlay an out-of-focus photo of a white male scientist looking at a test tube that he is holding up

Whole genome sequencing: Seven uses in health and research

In part two of our blog series, we look at the many UK initiatives that are taking advantage of the power and precision of whole genome sequencing

Whole genome sequencing for diagnosis of infants

A 2023 US study has investigated whether panel testing or whole genome sequencing is more likely to provide a molecular diagnosis, and we consider how the results apply to the NHS

DNA clues discovered for asymptomatic and long Covid conditions

The HLA-B and FOXP4 DNA regions may be the link between Covid-19 symptom severity and our genome, according to two papers

What's in a little variation?

Genomic variation is the root of many of our traits, including what we look like and our susceptibility to many diseases. But what is it?
A strand of stylised blue DNA on a plain background with a magnifying glass focusing on a section of the DNA strand

How has whole genome sequencing transformed the investigation of rare disease?

The way in which rare diseases are investigated has been opened up by whole genome sequencing. We look at its impact on both clinicians and patients

Polygenic scores show promise for improved prostate cancer detection

Three in ten men would have been spared an invasive prostate cancer-confirming biopsy if their own genomic data were considered, say Stanford University researchers

First results returned from NHS cancer blood test 

Two in three patients with suspected cancer symptoms could receive an early diagnosis from a new blood test
A baby's fist closed around the finger of an adult.

Hidden genomics in health visiting

In this feature article for the 2023 #GenomicsConversation week, we explore the vital role that health visitors play in unlocking the potential of genomics for patients
Illustrated magnifying glass on striped background, with DNA double helices visible under the magnifying glass.

Can you spot the hidden genomics?

We've put together eight short healthcare scenarios where genomics may play a part. See if you can work it out, and click to reveal if you're right
Two illustrated health professionals in conversation

Experts through experience: Arti’s story

In today’s #GenomicsConversation blog post, we share Arti’s story of pursuing genomic testing and finding answers about her condition
Illustrated image of two health professionals in conversation

Experts through experience: Jo’s story

As part of this year’s #GenomicsConversation, patient advocate Jo shares her breast cancer journey, which began before the NHS Genomic Medicine Service was set up