Jump to content
The Great Escape Online Community

[Slashdot] - Whole Genome Sequencing Could Save NHS Millions of Pounds, Study Suggests


Admin
 Share

Recommended Posts

The use of whole genome sequencing could save the NHS millions of pounds, a study suggests, after it found a quarter of people with rare illnesses received a diagnosis for their condition through the technology. From a report: In some cases, the findings have provided reassurance for families that they have not passed their condition on to their children, while in others they have inspired life-changing treatments. Though individually uncommon, rare inherited diseases affect about 6% of the UK population, or roughly 3 million people. Traditionally, geneticists searched for the abnormalities underpinning such conditions by looking at the person's chromosomes through a microscope, but this is no good at spotting tiny, but often highly significant changes, such as single letter substitutions in the genetic code. Because of this, "many of the people who have a rare disease either live very long diagnostic odysseys to get an answer for why they are like they are, or they do not get an answer in their entire lifetime," said Prof Sir Mark Caulfield at Queen Mary University of London (QMUL), a former chief scientist at Genomics England. In 2013, the UK government launched the 100,000 Genomes Project to investigate whether WGS -- which involves reading through the entire 3bn pairs of letters in the human genome -- could help doctors better understand the cause of patients' symptoms, and identify other family members who may be at risk. Five years later, NHS England became the first national health care system in the world to offer WGS to people with undiagnosed rare diseases and cancer as part of routine care.

twitter_icon_large.png facebook_icon_large.png

Read more of this story at Slashdot.

View the full article

Link to comment
Share on other sites

Join the conversation

You can post now and register later. If you have an account, sign in now to post with your account.

Guest
Reply to this topic...

×   Pasted as rich text.   Paste as plain text instead

  Only 75 emoji are allowed.

×   Your link has been automatically embedded.   Display as a link instead

×   Your previous content has been restored.   Clear editor

×   You cannot paste images directly. Upload or insert images from URL.

 Share

  • Recently Browsing   0 members

    • No registered users viewing this page.
×
×
  • Create New...

Important Information

By using The Great Escaped Online Community, you agree to our Privacy Policy and Terms of Use