Royal Brompton and Harefield Hospitals Charity

Specialist heart and lung genetic testing service

An estimated 640,000 people in the UK have an inherited heart condition. Most of them aren’t getting treatment that could save their lives. Why? They don’t know even know they have a problem.

Sometimes people can develop warning signs including dizzy spells, palpitations and blackouts. But often they have no symptoms at all. If they go untreated, these heart conditions can be deadly.

Screening and genetic testing can help people get the diagnosis andtreatment they desperately need.

We awarded a grant of £63,750 to Royal Brompton Hospital’s specialist heart and lung genetic testing service so they could buy a NextSeq 550 system. The machine provides a fast and accurate method of sequencing genes and will allow the laboratory to more than double the number of tests run over the next two years.

With this equipment, the hospital can:

  • Analyse 46 samples a week, compared to 11 previously
  • Test more quickly – samples for heart and lung conditions can be analysed simultaneously
  • Get more accurate results, because of how sensitive the equipment is.
  • One of the biggest barriers to providing lifesaving care for the estimated 640,000 people in the UK who have an inherited cardiac condition is lack of diagnosis.
  • Every week in the UK, 12 people under the age of 35 die from a heart condition they didn’t know they had.
  • Our grant to Royal Brompton and Harefield Hospitals Charityhelped buy equipment that provides fast and accurate genetic testing.

Why do we need genetic testing?

Genetic testing gives a patient more than just a diagnosis. It can provide information on the best possible course of treatment, details of the likely progression of the disease and advice for family planning. It can be used to test entire families, to identify everyone at risk and inform preventative treatments to save more lives.

Once they’ve been diagnosed, people can make necessary changes to their lifestyle to stay healthy, or start any treatment or medication they need. But they need accurate genetic testing first.

Advanced technologies and the falling price of sequencing means that genetic testing is an option for more people than ever. However, there are a limited number of services available to NHS patients and none that specialise in complex and rare heart and lung conditions. Centre for London will capture the findings in a policy-focused report that will include recommendations on how existing policy and practice needs to adapt. The recommendations will be targeted at the Mayor of London and mayoral agencies, boroughs, developers, planners and architects.

“Updating medical testing equipment saves lives. But it requires ongoing investment. There are lots of competing needs in the healthcare system and we were happy to be able to provide a grant that will help ensure more people get the diagnosis and treatment they need.”

Soma, Executive Trustee at Kusuma Trust

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