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Tags disease , dna , genetic disorder , genomic sequencing

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Old 11th June 2019, 04:38 AM   #1
Planigale
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NHS offers routine genomic sequencing for (critically) ill children

Genetics seems to be going through the same sort of accelerated progress that computing has gone through. A few years ago it took years and billions to sequence the human genome. Now the NHS will routinely sequence the genome of seriously ill children to obtain a rapid diagnosis of rare conditions (and presumably identify new ones). Parents will also be offered testing to see if there is a risk of future children being affected (most genetic disorders are new mutations and not inherited).

https://www.bbc.co.uk/news/health-48499783

This may be cost saving as it may avoid multiple tests for specific conditions and may allow more specific treatment. The insight into human function from sequencing thousands of people with disorders will be amazing, together with being able to match treatments to specific gene abnormalities.
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Old 11th June 2019, 12:52 PM   #2
casebro
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It is the "whole genome" ! Excellent!!!

Probaly costs about $1,000, cheaper than ONE hospital stay.
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Old 11th June 2019, 01:11 PM   #3
Darat
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Seems a really sensible idea in regards to obviously the diagnosis and treatment of a sick child but also in terms of costs. No visits to multiple specialists, no duplication of tests and so on.
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Old 11th June 2019, 01:37 PM   #4
JeanTate
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This is great news!

Any idea which tissues will be collected for sequencing?

Part of the reason I ask is that it is - IIRC - now clear that at least some adults' DNA is a mosaic, in the sense that normal cells in different parts of the body may have acquired mutations (which do not result in cancer). Of course, only for cells like skin, liver, intestines, etc which are constantly (or occasionally) being replaced.

Then there are inherited mosaics, such as Beckwith-Wiedermann syndrome.
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