Health horizons

Unlocking the benefits of targeted medicine

Some of the biggest advances to come from mapping the human genome have focused on cancer care.

But we are only beginning to unlock the potential benefits of this knowledge and what it means for all of us in terms of improved care — not only for cancer, but also for heart disease, metabolic conditions such as diabetes, and many other health issues.

As Professor Paul Workman, chief executive of the Institute of Cancer research says, “The draft human genome, followed by thousands of others, has had a huge impact on biology and medicine. ¹

“The impact has been especially great in cancer research, enabling us to understand the fundamental nature of what goes wrong to cause cancer and helping us to discover innovative precision medicines.”

Targeted therapies

Unlocking the genome led to a new generation of targeted therapies such as Herceptin, Mabthera and Perjeta which seek out specific proteins on cancer cells and use these molecular targets to destroy them, or prevent the cancer growing. ²

They have been game-changers. It’s estimated that Herceptin alone has saved around three million lives by providing a precision therapy for cancers driven by gene variant that over-produces the HER-2 protein. ³

And this arsenal of targeted therapies continues to grow as we learn more about the genes which drive cancer.

Improves outcomes

CAR T-cell immunotherapy improves outcomes for patients with cancers of the blood by helping their immune system’s T-cells spot the difference between a cancer cell and a healthy one. ⁴

While checkpoint inhibitors, such as Opdivo and Yervoy, are used to combat a number of cancers including skin, lung and kidney. They work by blocking proteins that stop the immune system from attacking cancer cells. ⁵

Bupa often provides access to these new therapies before they are approved by NICE or available on the NHS. ⁶

Genome sequencing

Alongside these advances, we are seeing greater use of whole genome sequencing (WGS) and other genetic tests to glean more detailed information about each patient’s cancers, how they developed and how best to treat them. ⁷

These include Signatera tests which detect traces of cancer DNA and identify patients at high risk of cancer recurrence.

This dramatically improves long-term survival ⁸, which allows patients to draw a line under their treatment and get on with their lives and reduces the likelihood of future healthcare costs and absence.

CiRT, which helps pinpoint the treatments most likely to be effective and checks to prevent serious side effects from cancer therapies.

Trigger reactions

For instance, some people carry gene variants which trigger severe reactions to the widely used chemotherapy drugs, 5-fluorouracil (5FU) and capecitabine. ⁹ To avoid this, patients are now routinely tested before these drugs are used.

It’s estimated that more than 90% of people carry at least one gene variant which impacts the efficacy or side effects of a medicine. ¹⁰ These include statins, warfarin, aspirin, antidepressants, antacids and antibiotics. ¹¹

Dr Tim Woodman, Bupa’s Medical Director in Bupa UK Insurance says, “The science of pharmacogenomics — as this is known — is already improving outcomes, but it will become increasingly widespread as we learn more.”

Personalised healthcare based on an individual’s genetic risk is also helping to prevent disease, and Bupa is the first UK health provider to pilot whole genome sequencing (WGS).

Genetic screening

As part of a two-year pilot launched late last year, more than 3,500 selected customers are being offered WGS to identify their risk of developing more than 36 conditions, including heart disease, metabolic diseases such as type-2 diabetes and 10 cancers. ¹²

The screening looks for more than 300 genes directly associated with disease, and uses nine polygenic risk scores, which calculate risk based on multiple genes that contribute to a particular condition.

Crucially, screening targets genes and conditions where lifestyle and therapeutic interventions can help to prevent ill-health.

Lynch syndrome

Dr Tim Woodman says, “These include the BRCA cancer genes, as well as variants associated with Lynch syndrome.

Although less well known than the BRCA genes, it’s estimated that as many as one in 250 people¹³ has inherited one of the gene variants associated with Lynch syndrome.

These variants block the body’s ability to repair DNA errors and increases the risk of developing bowel, ovarian, pancreatic and other cancers.¹⁴

But fewer than 5% of the people with Lynch syndrome realise they are risk.

Dr Tim Woodman says, “Unlike the BRCA genes, which are primarily associated with breast, ovarian and prostate cancers, Lynch is associated with multiple forms of the disease. This makes it harder to spot from someone’s family history.

Risk reduction

“But knowing you carry one of these genes means you can take steps to reduce your risk, or have regular screening to ensure early diagnosis.

“If you have Lynch syndrome, taking aspirin will dramatically reduce the risk of developing bowel cancer,¹⁵ and there is some evidence it may protect against others.”¹⁶

Inherited genes also impact our risk of heart disease.

Around one in 250 people in the UK carries a gene variant which means they can eat a healthy, low-fat diet, but still have dangerously high cholesterol, a condition known as familial hypercholesterolaemia.

Yet fewer than 8% of those affected are aware they are at risk¹⁷ and even if it is picked up on routine health checks, they may need more powerful statins, or additional medicines, to get it under control.¹⁸

Dr Tim Woodman says, “Genomics is changing the way we think about healthcare and helping people to take proactive steps to prevent, or delay, disease — and it is at the heart of Bupa’s mission to help people live longer, healthier, happier lives.”