Gene Sequencer to determine the genetic links of heart disease

The arrival of a state-of-the-art gene sequencer at Royal Brompton Hospital will pave the way for major advances in the treatment of cardiovascular disease. The Next Generation Genetic Sequencer has enabled experts to sequence all of patients’ genes for the first time in the NHS, and will be used to research the underlying genetic links of cardiovascular disease. Heart disease is the UK’s biggest killer and the most common cause of premature death in the UK, and cardiovascular disease causes more than one in three of all deaths (around 200,000 deaths each year).

Funded by the National Institute for Health Research (NIHR), the Next Generation Genetic Sequencer will initially be used for research purposes to enable clinicians to better understand heart disease by carefully categorising patients into disease types and discovering the genetic factors that cause the disease. Over the next 10 years, researchers will look at 10,000 patients above the age of 16 years. They will eventually use this information to help establish new genetic factors causing heart disease in individual patients, which will assist in providing personalised treatments.

Professor Dudley Pennell, director of the Cardiovascular Magnetic Resonance Unit at Royal Brompton Hospital, Professor of Cardiology at Imperial College London, and director of the joint Royal Brompton/Imperial NIHR Cardiovascular Biomedical Research Unit (BRU), said: “The Next Generation Genetic Sequencer is a significant advance for the Trust, Imperial College London and for the wider NHS. The sequencer will bring clear benefits for patients, because we will be able to determine a genetic cause of their cardiac condition to allow accurate diagnosis and personalised treatment. We can now read all the patient’s genes in just one day.”

The Next Generation Genetic Sequencer will sequence the "exome", which is the portion of a patient’s DNA which contains the 22,000 genes that exist in humans. These genes make proteins, the molecules found in all living cells which play a variety of roles essential to life. Outside these genes, variation in a person’s DNA is currently of limited use for the diagnosis or treatment of heart disease.

The ability to sequence the whole exome comes exactly 10 years after Former US President Bill Clinton announced the decoding of the human genome at the White House. The current Next Generation Genetic Sequencer (Applied Biosystems SOLiD v3+ sequencer) installed at Royal Brompton Hospital operates 200,000 times faster and is 10,000 cheaper than the systems used at that time. These technological advances are starting to make the promised genetic revolution a reality.

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