Children with rare conditions will be offered DNA sequencing at all intensive-care units in England

Mail Online | 6/11/2019 | Alexandra Thompson Senior Health Reporter For Mailonline
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Every sick child in England with mysterious conditions will have the chance to have their entire DNA mapped as of next year.

All youngsters admitted to intensive care in England with an unknown disorder will be offered a genome analysis from January.

NHS - World - Screening - Option - Parents

The NHS will be the first in the world to offer the screening, also an option given to the parents of children, carried out via a blood sample.

Experts say the move could transform the diagnosis of children with rare diseases.

Study - Patient - Code - Care - Diagnosis

This comes after a study found unraveling a young patient's genetic code while in intensive care led to a diagnosis in as little as two weeks.

Cambridge University researchers found it changed the treatment the child received in 75 per cent of cases.

Youngsters - Parents - 'faulty - Genes - Children

Screening some of the youngsters' parents also revealed whether they had passed on 'faulty genes' to their children.

The scientists said this flagged to them the risk this could happen again if they expanded their family.

Research - Generation - Children - Dr - Lucy

The research, called Next Generation Children, was led by Dr Lucy Raymond, a professor of medical genetics and neurodevelopment at Cambridge.

Professor Raymond told the BBC: 'It is astonishing to be able to give a meaningful result from whole genome sequencing analysis in just a couple of weeks.'

Career - 'years - Gene

She added that earlier in her academic career they spent 'years simply trying to locate a single gene'.

'Parents will no longer have to suffer an agonising diagnostic odyssey of going to different specialists repeating their story and we can use that time focused on the care of the child,' she added.

Figures - Patients - Care - Units - UK

Figures show almost 100,000 young patients are admitted to intensive care units across the UK each year.

She added the project will be rolled out in England next year. It will act as a template for the NHS Genomic Medicine Service.

NHS - Genomic - Medicine - Service

The NHS Genomic Medicine Service...
(Excerpt) Read more at: Mail Online
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