Genome sequencing could be offered to all adults on NHS in bid to defeat cancers – The Mirror

Using DNA extracted from blood, tissue or skin samples, researchers looked for 566 mutations linked to disease, including 84 for cancer, 77 for heart conditions, and others affecting responses to medicines

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Whole genome sequencing could be offered to all adults on the NHS within five years to help millions cut their risk of conditions such as cancer and heart disease, experts have revealed.

Thousands of lives could be saved annually if the tests - which read a persons entire genetic code - were widely available, it was said.

In a study of 102 healthy patients at a GP surgery, one in four were found to carry actionable mutations.

These were changes to their genes which increased risk of certain diseases but could be mitigated through lifestyle changes, extra monitoring or other preventative measures.

Six in ten carried an inherited mutation in a recessive gene, meaning they were not affected by a condition but could pass it on to their children.

Detecting such mutations can guide healthcare decisions and enable more personalised treatment.

Study leader Professor Ros Eeles, an expert in oncogenetics at The Institute of Cancer Research in London, said the results could spark a revolution in healthcare, paving the way for testing to be rolled out to anyone who wants it in the next two to five years.

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No countries are yet offering genome tests on this scale.

Prof Eeles added: Our findings suggest that integrating whole-genome sequencing into primary care could change the way most patients and their families are managed by their GPs.

Health Secretary Sajid Javid said genomics was changing the future of healthcare.

He added: This study shows the potential for genome sequencing in enabling patients with life-changing diseases to receive early diagnoses just by visiting their GPs in future.

The UK continues to lead the way in genomics expertise and this exciting collaboration between the Institute of Cancer Research, the NHS and the wider health sector has the potential to save lives by increasing the detection and prevention of diseases such as cancer and heart disease.

The study was the first to trial offering the tests at GP surgeries and recruited participants from The London Genetics Centre, at 90 Sloane Street.

A human genome contains around 20,000 genes made up of 3.2 billion letters of DNA.

Using DNA extracted from blood, tissue or skin samples, researchers looked for 566 mutations linked to disease, including 84 for cancer, 77 for heart conditions, and others affecting responses to medicines.

Some 26 patients had potentially actionable genetic variants, 61 had a recessive gene that could be passed on should their partner also carry it, and 38 had changes linked to medicine responses.

Dr Eeles, also a cancer consultant at The Royal Marsden NHS Foundation Trust, said the most common action taken as a result was more frequent screening for patients at risk of cancer.

One woman found to be at elevated risk of ovarian cancer chose to have her ovaries removed.

Another who frequently travelled discovered she was at high risk of deep vein thrombosis and now uses an injectable anticoagulant before flights to prevent blood clots.

Other possible benefits include the ability to select drugs that cause less side effects, or earlier prescribing of statins for people predisposed to have high-cholesterol.

People with mutations that could be passed onto their children can be offered IVF with embryo screening.

Around 70 per cent of those with actionable mutations would not have been identified through normal checks and family history.

Whole genome sequencing is available for certain conditions including some cancers and rare diseases.

Dr Eeles said her team was in discussions with NHS England and the tests could eventually become a routine part of GP registration.

She added: The power of new genetics really needs to be enhanced for healthcare and this is the first study along the way.

Its definitely coming. Theres a huge impetus in genome integration into healthcare in the UK.

Sequencing each patients genome cost 1,800 but researchers believe this can be cut to under 1,000 for the NHS.

Dr Eeles added: It sounds like a lot but to treat somebody with metastatic [cancer] you could be talking about 200,000 for two years of immunotherapy treatment.

Patients were not told about their risk of diseases with no known treatments, such as dementia. Specially trained staff helped them understand their results and deal with any concerns.

The findings will be presented at the American Society of Clinical Oncologys Annual Conference in Chicago.

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Genome sequencing could be offered to all adults on NHS in bid to defeat cancers - The Mirror