Transforming healthcare with genomics: Bupa

DNA

 

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Many corporate healthcare plans now offer a range of wellbeing services designed to keep people healthy, alongside timely treatment options for when people fall ill. 

Increasingly healthcare is becoming more personalised, with both preventative and treatment options tailored to individuals. This has become possible thanks to scientific research into the human genome, and greater understanding of how our individual genetic makeup can impact our health. 

But what is the genome? The genome is made up of 23 pairs of chromosomes which contain the genes needed to make every cell in the body. It’s essentially a blueprint for life. In between are sequences once commonly known as ‘junk’ DNA. We now know that both are important as faults in single genes can cause inherited diseases such as cystic fibrosis, haemophilia, and sickle cell disease. Mutations of genes, such as BRA1 and 2 genes, can also increase the risk of developing cancer.

Mapping about 92 per cent of the total human genome was completed in 2003, but it wasn’t until 2022 that some of the last details of the human genome were mapped. 

“Genomics opened a door to a new generation of targeted therapies, particularly in the treatment of cancer, and it has been life-changing for a growing number of children born with what would have been life-limiting genetic diseases. But we are only beginning to unlock the power of genomics to predict, prevent and diagnose disease,” says Dr Robin Clark, Medical Director of Bupa UK.

Dr Clark continues, “We can alter this inheritance by replacing the faulty gene. This is already happening in children born with rare life-limiting conditions. This sort of gene therapy is likely to become increasingly common as genetic sequencing and gene therapies become less expensive.”

Preventative surgery from screening for cancer-causing genes, such as BRAC1 and 2, can reduce the risk of developing cancer by 90 to 95 per cent However, most diseases are not caused by single faulty genes with no more than 5 per cent of the human genome made of genes – known as non-coding DNA. This is known to influence our risk of disease by regulating genes, often by turning them on or off.

Multiple genetic, environmental and lifestyle factors cause the majority of illnesses, and scientists are using big data to help identify these patterns. UK Biobank is using a database loaded with genetic and health information from half a million people to help improve the ability to predict an individual’s risk of developing common diseases and cancers. This is known as polygenic risk scores.

“This detailed knowledge is incredibly powerful in terms of disease prevention. Polygenic risk scores can identify the risk factors which are most important for each of us, individually. This allows us to tailor health advice, and early interventions, according to an individual’s own risk,” says Dr Clark.

Dr Clark continues to say, “Knowledge is power, and people are more likely to be proactive about protecting their health if they know that the health advice, they are given is based on their personalised risk profile, and not generalised guidance based on what’s best for the population as a whole.”

There is a growing focus on preventative and proactive health and wellbeing services in the UK. If you would like to read more information about the business benefits of investing in the prevention revolution, visit Health Horizons.

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