Page URL:

Rare disease diagnosis improved by whole genome sequencing

15 November 2021
Appeared in BioNews 1121

Whole genome sequencing of NHS patients with rare diseases can provide diagnoses that could lead to more personalised care or treatment and potentially save the NHS money, a study has shown.

In 2012, the 100,000 Genomes Project set out to sequence thousands of genomes from NHS patients with rare genetic diseases or cancer. It was believed the project would revolutionise the way people were diagnosed and cared for and establish personalised treatment options. A recent pilot study, published in the New England Journal of Medicine, analysed genomes from 4660 people, from 2183 families, who took part in the 100,000 Genomes Project.

Professor John Sayer, from the University of Newcastle, who led recruitment for the North East said: 'Our study is a world-first confirming a definitive genetic diagnosis can vitally help patients and their families, giving them access to specific information about prognosis, treatment, genetic counselling and reproductive options'.

Led by Genomics England, the collaborative study found that whole genome sequencing led to a new a diagnosis for 25 percent of the participants. Of these participants, 25 percent were then able to access information and treatments that were potentially beneficial. Just 0.2 percent of the diagnosis made were described as having no benefit.

The number of people who received a genetic diagnosis varied significantly based on the type of disease they had. The diagnostic success rate was as high as 40-55 percent in participants with intellectual disability, vision and hearing disorders and as low as six percent for participants with family cancer syndromes.

The study is the first to investigate the diagnostic and therapeutic importance of whole genome sequencing in a national healthcare system, thereby supporting its inclusion in medical systems around the world.

In a case which typified the value of whole genome sequencing in healthcare, genomic analysis of a baby boy who died aged four months found that his health problems were caused by a genetic variant that caused the faulty transport of vitamin B12 into his cells, the Guardian reported. By identifying the underlying cause of death, doctors were able to test his younger brother at birth and subsequently establish a programme of weekly vitamin B12 injections which halted his disease progression.

Professor Darren Griffin, professor of genetics at the University of Kent who was not involved in the research, said 'this study is undoubtedly good news for healthcare and for the NHS. The ability to diagnose rare diseases early is the key to successful treatment and, as whole sequencing technology gets cheaper and cheaper, its widespread roll out is becoming inevitable.'

The use of whole genome sequencing for newborn babies will be discussed this coming Wednesday (17 November 2021) at the free-to-attend online event 'Whole Genome Sequencing at Birth: What Should Be Looked For? What Should Be Fed Back?', produced by PET in partnership with Genomics England. Register here.

There will also be a follow-up event, 'Whole Genome Sequencing at Birth: Consenting Adults, Sequencing Babies' on Wednesday 15 December 2021. Register here.

24 January 2022 - by Annabel Slater 
Genomics England's Newborn Genomes Programme will explore the benefits, practicalities, and challenges of whole genome sequencing for newborn babies in the UK. The genomic data will be used to develop diagnostics and treatments for hundreds of diseases, particularly rare conditions...
22 November 2021 - by Dr Molly Godfrey 
The first 200,000 whole genomes to be sequenced as part of the UK Biobank project have been made widely available to researchers...
22 November 2021 - by BioNews 
A conversation between Sarah Norcross (director of the Progress Educational Trust) and Dr Charles Steward (lead for patient advocacy and engagement at Congenica, and parent of two children with severe neurological disorders)...
22 November 2021 - by Dr Jess Buxton 
A new pilot study embedded in the NHS will explore whether and how to offer whole genome sequencing to newborn babies...
15 November 2021 - by Francesca Sowerbutts 
The rapid development of genomic technology over the last decade is apparent in many different areas of our lives...
15 November 2021 - by Christina Burke 
Outcomes for child cancer patients could be dramatically improved by sequencing their genomes, a study has shown...
8 November 2021 - by Dr Yvonne Collins 
Currently, only nine conditions are screened for in the UK, which is fewer than many other high-income countries. Although many patient groups advocate for new conditions to be added to the list, this has not happened...
8 November 2021 - by Devika Sooklall 
Whole genome sequencing can facilitate faster and more accurate diagnoses of rare mitochondrial disorders, new research has revealed...
12 July 2021 - by BioNews 
A conversation between Sandy Starr (deputy director of the Progress Educational Trust) and Simon Wilde (engagement director at Genomics England) about a new report on whole genome sequencing and newborn screening...
12 July 2021 - by Dr Eleanor Lynam 
Members of the UK public are largely supportive of the use of whole genome sequencing in newborn screening, according to a national public dialogue...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.