Accessibility Statement Skip Navigation
  • Resources
  • Blog
  • Journalists
  • +44 (0)20 7454 5110
  • Client Login
  • Send a Release
Return to PR Newswire homepage
  • News
  • Products
  • Contact
When typing in this field, a list of search results will appear and be automatically updated as you type.

Searching for your content...

No results found. Please change your search terms and try again.
  • News in Focus
      • Browse News Releases

      • All Public Company News
      • All Multimedia News
      • View All News Releases

      • Regulatory News

      • D/A/CH Regulatory News
      • UK Regulatory News
      • View All Regulatory News

  • Business & Money
      • Auto & Transportation

      • Aerospace & Defense
      • Air Freight
      • Airlines & Aviation
      • Automotive
      • Maritime & Shipbuilding
      • Railroads & Intermodal Transportation
      • Supply Chain/Logistics
      • Transportation, Trucking & Railroad
      • Travel
      • Trucking & Road Transportation
      • View All Auto & Transportation

      • Business Technology

      • Blockchain
      • Broadcast Tech
      • Computer & Electronics
      • Computer Hardware
      • Computer Software
      • Data Analytics
      • Electronic Commerce
      • Electronic Components
      • Electronic Design Automation
      • Financial Technology
      • High Tech Security
      • Internet Technology
      • Nanotechnology
      • Networks
      • Peripherals
      • Semiconductors
      • View All Business Technology

      • Entertain­ment & Media

      • Advertising
      • Art
      • Books
      • Entertainment
      • Film & Motion Picture
      • Magazines
      • Music
      • Publishing & Information Services
      • Radio & Podcast
      • Television
      • View All Entertain­ment & Media

      • Financial Services & Investing

      • Accounting News & Issues
      • Acquisitions, Mergers & Takeovers
      • Banking & Financial Services
      • Bankruptcy
      • Bond & Stock Ratings
      • Conference Call Announcements
      • Contracts
      • Cryptocurrency
      • Dividends
      • Earnings
      • Earnings Forecasts & Projections
      • Financing Agreements
      • Insurance
      • Investments Opinions
      • Joint Ventures
      • Mutual Funds
      • Private Placement
      • Real Estate
      • Restructuring & Recapitalisation
      • Sales Reports
      • Shareholder Activism
      • Shareholder Meetings
      • Stock Offering
      • Stock Split
      • Venture Capital
      • View All Financial Services & Investing

      • General Business

      • Awards
      • Commercial Real Estate
      • Corporate Expansion
      • Earnings
      • Environmental, Social and Governance (ESG)
      • Human Resource & Workforce Management
      • Licensing
      • New Products & Services
      • Obituaries
      • Outsourcing Businesses
      • Overseas Real Estate (non-US)
      • Personnel Announcements
      • Real Estate Transactions
      • Residential Real Estate
      • Small Business Services
      • Socially Responsible Investing
      • Surveys, Polls & Research
      • Trade Show News
      • View All General Business

  • Science & Tech
      • Consumer Technology

      • Artificial Intelligence
      • Blockchain
      • Cloud Computing/Internet of Things
      • Computer Electronics
      • Computer Hardware
      • Computer Software
      • Consumer Electronics
      • Cryptocurrency
      • Data Analytics
      • Electronic Commerce
      • Electronic Gaming
      • Financial Technology
      • Mobile Entertainment
      • Multimedia & Internet
      • Peripherals
      • Social Media
      • STEM (Science, Tech, Engineering, Math)
      • Supply Chain/Logistics
      • Wireless Communications
      • View All Consumer Technology

      • Energy & Natural Resources

      • Alternative Energies
      • Chemical
      • Electrical Utilities
      • Gas
      • General Manufacturing
      • Mining
      • Mining & Metals
      • Oil & Energy
      • Oil & Gas Discoveries
      • Utilities
      • Water Utilities
      • View All Energy & Natural Resources

      • Environ­ment

      • Conservation & Recycling
      • Environmental Issues
      • Environmental Policy
      • Environmental Products & Services
      • Green Technology
      • Natural Disasters
      • View All Environ­ment

      • Heavy Industry & Manufacturing

      • Aerospace & Defence
      • Agriculture
      • Chemical
      • Construction & Building
      • General Manufacturing
      • HVAC (Heating, Ventilation & Air-Conditioning)
      • Machinery
      • Machine Tools, Metalworking & Metallurgy
      • Mining
      • Mining & Metals
      • Paper, Forest Products & Containers
      • Precious Metals
      • Textiles
      • Tobacco
      • View All Heavy Industry & Manufacturing

      • Telecomm­unications

      • Carriers & Services
      • Mobile Entertainment
      • Networks
      • Peripherals
      • Telecommunications Equipment
      • Telecommunications Industry
      • VoIP (Voice over Internet Protocol)
      • Wireless Communications
      • View All Telecomm­unications

  • Lifestyle & Health
      • Consumer Products & Retail

      • Animals & Pets
      • Beers, Wines & Spirits
      • Beverages
      • Bridal Services
      • Cannabis
      • Cosmetics & Personal Care
      • Fashion
      • Food & Beverages
      • Furniture & Furnishings
      • Home Improvement
      • Household, Consumer & Cosmetics
      • Household Products
      • Jewellery
      • Non-Alcoholic Beverages
      • Office Products
      • Organic Food
      • Product Recalls
      • Restaurants
      • Retail
      • Supermarkets
      • Toys
      • View All Consumer Products & Retail

      • Entertain­ment & Media

      • Advertising
      • Art
      • Books
      • Entertainment
      • Film & Motion Picture
      • Magazines
      • Music
      • Publishing & Information Services
      • Radio & Podcast
      • Television
      • View All Entertain­ment & Media

      • Health

      • Biometrics
      • Biotechnology
      • Clinical Trials & Medical Discoveries
      • Dentistry
      • FDA Approval
      • Fitness/Wellness
      • Health Care & Hospitals
      • Health Insurance
      • Infection Control
      • International Medical Approval
      • Medical Equipment
      • Medical Pharmaceuticals
      • Mental Health
      • Pharmaceuticals
      • Supplementary Medicine
      • View All Health

      • Sports

      • General Sports
      • Outdoors, Camping & Hiking
      • Sporting Events
      • Sports Equipment & Accessories
      • View All Sports

      • Travel

      • Amusement Parks & Tourist Attractions
      • Gambling & Casinos
      • Hotels & Resorts
      • Leisure & Tourism
      • Outdoors, Camping & Hiking
      • Passenger Aviation
      • Travel Industry
      • View All Travel

  • Policy & Public Interest
      • Policy & Public Interest

      • Animal Welfare
      • Corporate Social Responsibility
      • Economic News, Trends & Analysis
      • Education
      • Environmental
      • European Government
      • Labour & Union
      • Natural Disasters
      • Not For Profit
      • Public Safety
      • View All Policy & Public Interest

  • People & Culture
      • People & Culture

      • Aboriginal, First Nations & Native American
      • African American
      • Asian American
      • Children
      • Diversity, Equity & Inclusion
      • Hispanic
      • Lesbian, Gay & Bisexual
      • Men's Interest
      • People with Disabilities
      • Religion
      • Senior Citizens
      • Veterans
      • Women
      • View All People & Culture

  • Overview
  • Distribution
  • Paid Placement
  • Multimedia
  • Disclosure Services
  • SocialBoost
  • Rooms
    • MediaRoom
    • ESG Rooms
  • AI Tools
  • General Enquiries
  • Media Enquiries
  • Partnerships
  • Hamburger menu
  • Cision PR Newswire UK provides press release distribution, targeting, monitoring, and marketing services
  • Send a Release
    • Phone

    • +44 (0)20 7454 5110 from 8 AM - 5:30 PM GMT

    • ALL CONTACT INFO
    • Contact Us

      +44 (0)20 7454 5110
      from 8 AM - 5:30 PM GMT

  • Client Login
  • Send a Release
  • Resources
  • Blog
  • Journalists
  • News in Focus
    • Browse News Releases
    • Regulatory News
  • Business & Money
    • Auto & Transportation
    • Business Technology
    • Entertain­ment & Media
    • Financial Services & Investing
    • General Business
  • Science & Tech
    • Consumer Technology
    • Energy & Natural Resources
    • Environ­ment
    • Heavy Industry & Manufacturing
    • Telecomm­unications
  • Lifestyle & Health
    • Consumer Products & Retail
    • Entertain­ment & Media
    • Health
    • Sports
    • Travel
  • Policy & Public Interest
    • Policy & Public Interest
  • People & Culture
    • People & Culture
  • Client Login
  • Send a Release
  • Resources
  • Blog
  • Journalists
  • Overview
  • Distribution
  • Paid Placement
  • Multimedia
  • Disclosure Services
  • Cision Communications Cloud®
  • AI Tools
  • Client Login
  • Send a Release
  • Resources
  • Blog
  • Journalists
  • General Enquiries
  • Media Enquiries
  • Partnerships
  • Client Login
  • Send a Release
  • Resources
  • Blog
  • Journalists

Whole genome sequencing robustly detects the most common inherited neurological diseases and is adopted by healthcare

This image opens in the lightbox

News provided by

Genomics England

16 Feb, 2022, 23:30 GMT

Share this article

Share toX

Share this article

Share toX

LONDON, Feb. 16, 2022 /PRNewswire/ --

  • study - led by Queen Mary University of London, Illumina, University College London and Genomics England, in conjunction with NHS England - highlights how whole genome sequencing robustly identifies the most common inherited neurological diseases
  • method now routinely utilised as a single test to support diagnosis of neurological disorders
  • faster diagnosis possible for conditions like Fragile X syndrome, Huntington's disease & some forms of ALS
  • WGS identifies neurological disorders in previously undiagnosed patients
Continue Reading
This image opens in the lightbox
Queen Mary Logo
This image opens in the lightbox
illumina Logo
This image opens in the lightbox
UCL Logo

Scientists have found whole genome sequencing (WGS) can quickly and accurately detect the most common inherited neurological disorders – something previously thought to be impossible – with the results supporting the use of WGS as a standard diagnostic tool within routine clinical practice.

The study – published today in The Lancet Neurology – was led by Queen Mary University of London, Illumina, University College London and Genomics England, in conjunction with NHS England – and assessed the diagnostic accuracy of WGS against the test used as standard across the NHS.

This study evaluated the role of WGS in the commonest causes of inherited neurological diseases that usually require multiple tests, a process that results in a long diagnostic odyssey. These repeat expansion disorders have short repetitive DNA sequences that cause disorders such as Fragile X syndrome (intellectual disability), Huntington's disease, Friedreich's ataxia (FA) and some forms of amyotrophic lateral sclerosis (ALS) and frontal lobe – or frontotemporal – dementia (FTD).

The study first analysed the accuracy of WGS to detect repeat expansion disorders by comparing the test currently in use, PCR (polymerase chain reaction), with WGS from 404 patients previously tested in the NHS. The findings highlighted the accuracy and sensitivity of WGS in detecting these kinds of conditions was equivalent to using PCR tests.

Then, the study used WGS from 11,631 undiagnosed people who had clinical features associated with a repeat expansion disorder who are participants in the 100,000 Genomes Project. Among the 68 people who benefited from a diagnosis were six children, some of whom did not have a reported family history of repeat expansion disorders and who previously did not receive a diagnosis, including a 10-year-old girl with an intellectual disability and an 18-year-old teenager with dementia.

The study demonstrated a quicker and more efficient diagnosis can be achieved through whole genome analysis for those patients who have not previously received a diagnosis replacing multiple tests over months or years.

This is because PCR tests are often locus-specific, meaning only one gene is looked at each time. The process is time-consuming and results in the underdiagnosis of people who have atypical clinical presentations, especially children without a previous positive family history. By contrast, a single WGS test can diagnose many disorders.

The findings support using whole genome sequencing within the NHS to diagnose patients whose doctors believe may have a repeat expansion disorder. The benefits of doing so would include:

  • supplying an answer for a previously undiagnosed condition
  • relatives knowing that the genetic condition runs in the family
  • improved understanding of how frequently a genetic mutation appears in the population
  • an increase in clinical drug / treatment trials

Professor Sir Mark Caulfield from Queen Mary University of London and former Chief Scientist at Genomics England, said: "This represents a major advance in the application of whole genomes enabling detection of previously unexpected inherited neurological disorders. At the moment, diagnosing this type of neurological disorder often depends on people having a family history of the disease or specific clinical symptoms, using WGS we can detect these and new repeat expansion disorders."

Dr Arianna Tucci, Medical Research Council Clinician Scientist fellow at Queen Mary University of London and University College London, said: "Repeat expansion disorders are estimated to affect 1/3000 people. Before this study, it was thought to be difficult to diagnose them using whole genome sequencing. Our study validates the use of whole genome sequencing, a newly introduced genetic test in the National Health Service, to diagnose the commonest form of inherited neurological diseases."

Dr Richard Scott, Chief Medical Officer at Genomics England, said: "This is a clear example of the sort of innovation that we are proud to have helped accelerate and of the impact the UK has been able to have by linking research with routine care in genomics. This work has allowed us to deploy new tools that can detect variation in the genome that more targeted sequencing misses. This has already led to diagnoses and better care for the families with rare disease in the 100,000 Genomes Project and is being used to support diagnosis in the NHS Genomic Medicine Service."

Dr Ryan Taft, Vice President of Scientific Research at Illumina, said: "This study demonstrates that whole genome sequencing can be used in clinical laboratories for the diagnosis of patients who have a neurological disorder, such as Huntington's disease. For the large percentage of patients with suspected repeat expansion disorders who remain undiagnosed, this should bring hope that a diagnosis may soon be possible."

Professor Dame Sue Hill, Chief Scientific Officer for England, said: "This research demonstrated the power of whole genome sequencing in helping to detect common neurological conditions and how it can lead to faster and more accurate diagnoses. We are already seeing the benefit of WGS in a clinical setting through the NHS Genomic Medicine Service and this research further proves the benefits of this kind of testing."

Eileen, a patient at The Ataxia Centre in London and who was diagnosed with Friedreich's ataxia through the study, said: "Having Friedreich ataxia has taken away everything I've loved. Over the last 15 years I've gone from someone who was confident, loved to dance and socialise to now using a walker and having slurred speech. Now when I meet people, I immediately think that they might be judging me.

"Before my diagnosis, I thought it would be better if I had cancer as there's usually a clear path of action to help you fight the disease. Having a diagnosis isn't a cure, but at last I knew what was happening and to understand what I needed to do to delay the inevitable for as long as possible. I do Pilates and work with a personal trainer twice week to maximise my strength and fitness to combat the progression. I am grateful to the London Specialist Ataxia Centre whose research programme allowed me to have a definitive genetic diagnosis, that otherwise would have taken many years to be made, if at all. I feel it is beneficial for patients with rare diseases to go to specialist centres where research is ongoing.

"Just as importantly, getting definitively diagnosed meant my family could also have a genetic test. Sadly, the Ataxia Centre could swiftly confirm that my younger sister also has FRDA so she's doing everything to combat progressions.

"There are currently no cures for FRDA but I'm looking to the future with much more optimism – hopefully there will be a treatment in the not-so-distant future."

Professor Patrick Chinnery, Clinical Director at the Medical Research Council, said: "Many patients with neurological disorders never receive a precise diagnosis. This new study shows how whole genome sequencing can address this challenge through a genuinely national programme, taking world-leading research to patients across the whole of England and improving their health care."

NOTES TO EDITORS

This research was funded by the National Institute for Health Research, Wellcome, Medical Research Council, Cancer Research UK, Department of Health and Social Care, and NHS England.

About Genomics England (https://www.genomicsengland.co.uk)

Genomics England works with the NHS to bring forward the use of genomic healthcare and research in Britain to help people live longer, healthier lives. Genomics is a ground-breaking area of medicine that uses our unique genetic code to help diagnose, treat and prevent illnesses. Established in 2013, Genomics England launched the world-leading 100,000 Genomes Project with the NHS, demonstrating how genomic insights can help doctors across the NHS, and building a foundation for the future by assembling a unique dataset. The project was achieved thanks to patients and participants helping to shape it and guiding decisions on data and privacy.

Genomics England is now expanding its impact. Our next chapter involves working with patients, doctors and scientists to improve genomic testing in the NHS and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.

About the 100,000 Genomes Project

The 100,000 Genomes Project is a now-completed UK Government project managed by Genomics England that sequenced whole genomes from NHS patients. The project focused on rare diseases, some common types of cancer, and infectious diseases.

Participants gave consent for their genome data to be linked to information about their medical condition and health records. The medical and genomic data is shared with researchers to improve knowledge of the causes, treatment and care of diseases.

Logo - https://mma.prnewswire.com/media/1683585/Genomics_England_Logo.jpg
Logo - https://mma.prnewswire.com/media/1683583/Queen_Mary_Logo.jpg
Logo - https://mma.prnewswire.com/media/1747437/illumina_Logo.jpg
Logo - https://mma.prnewswire.com/media/1747438/UCL_Logo.jpg

Modal title

Contact PR Newswire

  • +44 (0)20 7454 5110
    from 8 AM - 5:30 PM GMT
  • General Enquiries
  • Media Enquiries
  • Partnerships

Products

  • Content Distribution
  • Multimedia Services
  • Disclosure Services
  • Cision Communications Cloud®

About

  • About PR Newswire
  • About Cision
  • Partnering Opportunities
  • Careers
  • APAC
  • APAC - Simplified Chinese
  • APAC - Traditional Chinese
  • Brazil
  • Canada
  • Czech
  • Denmark
  • Finland
  • France
  • Germany
  • India
  • Indonesia
  • Israel
  • Japan
  • Korea
  • Mexico
  • Middle East
  • Middle East - Arabic
  • Netherlands
  • Norway
  • Poland
  • Portugal
  • Russia
  • Slovakia
  • Spain
  • Sweden
  • United States
  • Vietnam

My Services

  • All News Releases
  • Customer Portal
  • Resources
  • Blog
  • Journalists
  • Data Privacy

Do not sell or share my personal information:

  • Submit via Privacy@cision.com 
  • Call Privacy toll-free: 877-297-8921

Contact PR Newswire

Products

About

My Services
  • All News Releases
  • Customer Portal
  • Resources
  • Blog
  • Journalists
+44 (0)20 7454 5110
from 8 AM - 5:30 PM GMT
  • Terms of Use
  • Privacy Policy
  • Information Security Policy
  • Site Map
  • RSS
  • Cookie Settings
Copyright © 2025 PR Newswire Europe Limited. All Rights Reserved. A Cision company.