General Information Flashcards

1
Q

How many clinical genetics department in UK?

A

23

Please note that the clinical genetics department that a patient is referred to is dependent on their GP postcode, not the Trust that they are currently being treated at

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2
Q

100,000 Genome Project

A

It was launched in 2012 using Illumina sequencing.

In 2013, the Department of Health (as it was then known) established and funded a company called Genomics England to deliver the 100,000 Genomes Project. As part of the project set-up, 13 NHS Genomic Medicine Centres (GMCs) were created.

Project was completed in 2018 and results released in 2019.

Key things:
100,000 genomes were sequenced from patients with cancer and rare disease.

One in four participants with rare disease received a diagnosis for the first time.

Up to half of cancer patients received a clinically actionable result.

The project paved the way for the NHS Genomic Medicine Service.

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