Routine DNA tests will put NHS at the 'forefront of medicine'

["Dave Farber" <farber () gmail com>]

> Begin forwarded message:
>
> From: Dewayne Hendricks <dewayne () warpspeed com>
> Subject: [Dewayne-Net] Routine DNA tests will put NHS at the 'forefront of medicine'
> Date: July 4, 2018 at 10:29:41 AM GMT+9
> To: Multiple recipients of Dewayne-Net <dewayne-net () warpspeed com>
> Reply-To: dewayne-net () warpspeed com
>
> Routine DNA tests will put NHS at the 'forefront of medicine’
> From 1 October new cancer patients will have tumours screened for key mutations
> By Ian Sample
> Jul 3 2018
> <https://www.theguardian.com/science/2018/jul/03/nhs-routine-dna-tests-precision-cancer-tumour-screening>
>
> People in England will have access to DNA tests on an unprecedented scale from the autumn when the NHS becomes the 
> first health service in the world to routinely offer genomic medicine.
>
> From 1 October, hospitals across England will be connected to specialist centres that read, analyse and interpret 
> patient DNA to help diagnose rare diseases, match patients to the most effective treatments, and reduce adverse drug 
> reactions.
>
> The move marks a big step towards “precision medicine”, which offers more efficient therapies that are tailored to 
> individual patients.
>
> Under the service, new cancer patients will routinely have their tumour DNA screened for key mutations that can point 
> doctors towards the best drug to use in treatment, or to clinical trials of experimental therapies that patients are 
> likely to benefit from.
>
> For some diseases, such as leukaemia, sarcoma and childhood malignancies, doctors will have the cancer’s whole genome 
> sequenced to identify the suite of mutations that drive their growth. Similarly broad sequencing will be available 
> for medical staff caring for babies and children who are admitted to intensive care without an existing diagnosis.
>
> Beyond its aim to bring patients the most effective treatments faster, the service is expected to generate a wealth 
> of data on the interplay between DNA, health and lifestyles, which will become a powerful tool for research into 
> cancer and other diseases.
>
> The genomic medicine service will launch in England initially, but discussions are under way with the devolved 
> regions about how they might become involved.
>
> “We are ushering in a new era of genomic health,” said Mark Caulfield, the chief scientist at Genomic England and 
> professor of cardiovascular genetics at the William Harvey Research Institute in London. “This is a big step and it 
> grows over the new two years. It’s a total transformation.”
>
> The NHS already provides some genetic tests but uptake has been patchy and depended on regional expertise, leading to 
> stark differences in the tests available across the UK. 
>
> “This will really look to address that. It won’t matter if you live in the north east [of England] or the south west, 
> you should have the same access to clinical genome testing and that’s a great thing,” said William Newman, professor 
> of translational genomic medicine at Manchester University and vice-chair of the British Society for Genetic Medicine.
>
> The service will build on foundations laid down by the 100,000 Genomes Project, a huge DNA sequencing effort run by 
> Genomics England, a company formed by the Department of Health in 2013. So far the scientists have read more than 
> 70,000 whole genomes of people with cancer or rare genetic diseases and expect to reach their target by the end of 
> the year.
>
> The project swiftly established that the standard surgical practice of preserving tumour biopsies in a solution of 
> formaldehyde played havoc with DNA. To read the genetic makeup of a cancer the tissue must be fresh-frozen, a change 
> of procedure that is steadily being adopted by surgeons.
>
> Genomics England has set up seven genomic hubs across the country to deliver DNA tests on cancer, rare diseases and 
> other conditions. A separate lab in Cambridge will perform whole genome sequencing when all 3.2bn letters of the 
> human DNA code are needed. Because DNA test results are often complex, 13 national genomic medicine centres will draw 
> on multidisciplinary teams of specialists to work through results and write reports for patients. Details of 
> available tests will be stored in a national directory that will be updated every year as genetic medicine advances.
>
> Genetic medicine has already transformed the treatment of some cancer patients. The drug Herceptin was developed to 
> knock out proteins called oestrogen receptors that make some breast cancers grow faster. It takes a quick gene test 
> to identify patients most likely to benefit. “It shows in a nutshell the elegance and the potential of targeted 
> therapies,” said Louise Jones, professor of breast pathology at Barts Cancer Institute in London.
>
> [snip]
>
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