Genome sequencing could be offered to all adults in the NHS to help beat cancer

Using DNA extracted from blood, tissue or skin samples, the researchers looked for 566 disease-related mutations, including 84 for cancer, 77 for heart disease and others affecting drug response

Thousands of lives could be saved annually if the tests were widely available
Thousands of lives could be saved annually if the tests were widely available

Whole genome sequencing could be offered to all adults in the NHS within five years, helping millions of people lower their risk of conditions like cancer and heart disease, experts have revealed.

Thousands of lives could be saved annually if the tests – which read a person’s entire genetic code – were widely available, it said.

In a study of 102 healthy patients in a general practitioner’s office, one in four was found to carry “actionable” mutations.

These were changes in their genes that increased the risk of certain diseases, but could be mitigated with lifestyle changes, extra monitoring, or other preventive measures.

Six out of 10 carried an inherited mutation in a ‘recessive’ gene, meaning they were unaffected by a condition but could pass it on to their children.

Detection of such mutations can guide healthcare decisions and allow for more personalized treatment.

Lead study Professor Ros Eeles, an expert in oncogenetics at the Institute of Cancer Research in London, said the results could start a “revolution in healthcare” and pave the way for testing to be rolled out to anyone who wants it in the next two to five years .







Sajid Javid said genomics will ‘change the future of healthcare’
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So far, no country offers genome tests on this scale.

Prof Eeles added: “Our results suggest that the integration of whole genome sequencing into primary care could transform the way most patients and their families are treated by their GPs.”

Health Minister Sajid Javid said genomics will “change the future of healthcare”.

He added: “This study demonstrates the potential of genome sequencing to provide patients with life-changing diseases with early diagnosis simply by visiting their GP in the future.”

“The UK continues to be at the forefront of genomics expertise and this exciting collaboration between the Institute of Cancer Research, the NHS and the wider healthcare sector has the potential to save lives by improving the detection and prevention of diseases such as cancer and heart disease. ”

The study was the first to offer the testing in general practitioners’ offices and recruited participants from the London Genetics Center at 90 Sloane Street.

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

Using DNA extracted from blood, tissue or skin samples, the researchers looked for 566 disease-related mutations, including 84 for cancer, 77 for heart disease and others affecting drug response.

About 26 patients had potentially actionable genetic variants, 61 had a recessive gene that could be passed on if their partner also carries it, and 38 had alterations associated with drug responses.

dr Eeles, also a cancer adviser at The Royal Marsden NHS Foundation Trust, said the most common action being taken is more frequent screening of patients at risk for cancer.

A woman found to be at increased risk of ovarian cancer chose to have her ovaries removed.

Another, who traveled frequently, found she was at high risk for deep vein thrombosis and now uses an injectable anticoagulant before flights to prevent blood clots.

Other potential benefits include the ability to select drugs that cause fewer side effects or earlier prescription of statins for people predisposed to high cholesterol.

IVF with embryo screening may be offered to people with mutations that could be passed on to their children.

Approximately 70 percent of patients with actionable mutations would not have been identified by normal screening and family history.

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

dr Eeles said her team is in talks with NHS England and the testing could eventually become a routine part of GP registration.

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

“It will definitely come. There is tremendous momentum for genome integration into healthcare in the UK.”

It costs £1,800 to sequence each patient’s genome, but researchers believe this can be brought down to under £1,000 for the NHS.

dr Eeles added: “It sounds like a lot, but treating someone with metastases [cancer] They could be talking about £200,000 for two years of immunotherapy.”

Patients were not educated about their risk for diseases without known treatments, such as dementia. Specially trained staff helped them understand their findings and address concerns.

The results will be presented at the American Society of Clinical Oncology annual conference in Chicago.

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https://www.mirror.co.uk/lifestyle/health/genome-sequencing-could-offered-adults-27133925 Genome sequencing could be offered to all adults in the NHS to help beat cancer

Fry Electronics Team

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