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How genomics is changing cancer nursing

Genetic information is making personalised medicine possible – and nurses must understand what it means for patients

Genetic information is making personalised medicine possible and nurses must understand what it means for patients

  • Advances in genomics the study of the bodys genetic information and how it affects well-being are having an impact across healthcare
  • Genomic information helps clinicians select cancer treatments most likely to be effective for a particular patient
  • A genetic profile of a patient can drive treatment and medication making it more personalised care

Genomics is bringing rapid advancement in the understanding and treatment of disease and rare conditions.

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Genetic information is making personalised medicine possible – and nurses must understand what it means for patients

  • Advances in genomics – the study of the body’s genetic information and how it affects well-being – are having an impact across healthcare
  • Genomic information helps clinicians select cancer treatments most likely to be effective for a particular patient
  • A genetic profile of a patient can drive treatment and medication making it more personalised care
Digitally generated image of DNA
Digitally generated image of DNA. Picture: iStock

Genomics is bringing rapid advancement in the understanding and treatment of disease and rare conditions. Health Education England says it is beginning to have an impact right across healthcare and that nurses in all areas need to know how genomics is relevant to their role.

An understanding of the subject is also stipulated in the Nursing and Midwifery Council’s Standards of Proficiency for Registered Nurses. These state that at registration nurses should be able to ‘demonstrate and apply’ knowledge of genomics when developing person-centred assessments and care plans.

So what do nurses working in cancer care need to know about genomics, and where can they go to extend their knowledge?

What is genomics?

Genomics is ‘the study of the body’s genes, their functions and their influence on the growth, development and working of the body’, according to NHS England.

But behind that functional description lies an ongoing revolution triggered by ground-breaking research into DNA – deoxyribonucleic acid – in the 1950s by James Watson and Francis Crick and which continues today with radical improvements in treatments tailored to individual need.

DNA, in its famous double-helix molecular structure, is found in every living organism. It instructs the organism how to develop, function and reproduce.

DNA is made up of four chemicals represented by the letters A, T, C and G. Genes are built from DNA and collectively the instructions for making and maintaining the organism are known as a genome. The genome includes all 3.2 billion letters of a person’s DNA.

Genomics is therefore the study of an organism’s complete set of genetic information.

Genomics practitioner Tracie Miles, a gynaecology oncology nurse specialist at Royal United Hospitals Bath NHS Foundation Trust
Tracie Miles

Genomics practitioner Tracie Miles, a gynaecology oncology nurse specialist at Royal United Hospitals Bath NHS Foundation Trust, offers this description: ‘Genomics is a coverall term for the study of our genetic make-up and the influence it has on our well-being.’

How can genomics benefit cancer nursing?

Macmillan Cancer Support’s strategic adviser for treatment, medicines and genomics Dany Bell says genomics ‘looks at abnormalities in genes that drive the development and growth of many types of cancer and other rare diseases’.

Macmillan Cancer Support’s strategic adviser for treatment, medicines and genomics Dany Bell
Dany Bell

‘All cancers are a result of genetic changes in cells,’ says Ms Bell. ‘These changes are either acquired over time or are inherited from family members.’

Most cancers fall into the first category – acquired or ‘somatic’ mutations or variants – and result from ageing, environmental exposures, certain viruses such as human papillomavirus or normal wear and tear on cells.

Inherited or ‘germline’ variants occur in gene faults that can be passed from parent to child. The inherited faulty gene does not mean the child will necessarily develop cancer but the risks are higher.

Genomics England explains that genome sequencing allows for the comparison of tumour cells and healthy cells. This data can also show alterations in a gene that may cause disease.

So how does it make personalised medicine possible?

Ms Bell says genomic information can improve cancer diagnosis, as it offers precise information to help clinicians select treatments most likely to be effective for a given patient.

‘Whole genome sequencing can also show which patients are unlikely to benefit from a specific treatment. This can save unnecessary treatments and toxic side effects.

‘So genomics makes personalised medicine possible, with a real impact on patients and their health outcomes.’

Cancer Research UK lead research nurse Anne Croudass
Anne Croudass

Cancer Research UK lead research nurse Anne Croudass agrees that genomics has opened the door to many more treatment options.

‘The more we know about the genomics of cancer and of a patient with cancer, the more we can understand what is causing their specific cancer. We can then target a specific cell – either block it or send something to turn it off.’

What is targeted cancer therapy?

Once a specific gene mutation has been identified, the patient may respond to a targeted cancer therapy. These block the spread of cancer by disrupting specific molecules.

Targeted treatments differ from standard chemotherapy in several ways, according to the US National Cancer Institute. These differences include their action on specific molecules associated with cancer, whereas standard chemotherapies act on all rapidly dividing cells, normal and cancerous.

Identifying a gene variant does not mean a cancer will be cured, says Janet Hanwell, clinical nurse specialist at the Royal Marsden NHS Foundation Trust’s Oak Foundation Drug Development Unit .

‘Sadly, even if the patient has the mutation, even if we’ve got all the science behind it, it doesn’t mean to say the patient will benefit.

‘And I think that demonstrates there are far more processes that are implicated. They’re all entwined. The matrix of things that is happening cellularly is not necessarily just down to one mutation.’

Genomics and clinical trials

Janet Hanwell, clinical nurse specialist in the Oak Foundation Drug Development Unit at the Royal Marsden NHS Foundation Trust
Janet Hanwell

‘Because of changes in medicine and drug development, we are now involved in talking about genomics with our patients,’ says clinical nurse specialist Janet Hanwell.

Ms Hanwell works in the Oak Foundation Drug Development Unit at the Royal Marsden NHS Foundation Trust, where phase 1 trials are undertaken.

‘Phase 1 trials are essentially the first time we give a new compound, a new drug, that has been developed in a lab and shown to be promising,’ Ms Hanwell says.

She explains that the unit has grown over the years from a ‘tiny set-up’ where patients were randomly selected to help test a chemotherapy drug.

Twenty years on, the unit’s work is much advanced. ‘Now, we’re very carefully selecting patients even for these early-stage trials based not just on their tumour type but also on the genetic characterisation of their tumour.’

For example, the unit undertook phase 1 trials of osimertinib, a targeted treatment given to patients with non-small cell lung cancer who have a mutation in a gene called EGFR. Osimertinib is now in standard practice for those patients with the EGFR variant.

These targeted treatments can make a massive difference to patients’ lives, Ms Hanwell says. Many drugs have moved quickly through phase 1 trials at the Royal Marsden unit and, like osimertinib, have become part of standard care.

A genomics laboratory
A genomics laboratory. Picture: Science Photo Library

The biggest game-changer in her career was tyrosine kinase inhibitors for patients with gastrointestinal stromal cell cancers.

‘That was probably the first time I ever saw miracles in phase 1 trials,’ Ms Hanwell says. She cites the case of a patient who had been moved to a hospice and ‘had said his goodbyes’.

‘We gave him the drug and his disease melted away.’ He lived for another 18 months, long enough to see his daughter married and a grandchild born.

Ms Hanwell says: ‘Sadly, like a lot of these targets, there was a finite amount of benefit – but it was meaningful to him.’

Ms Croudass adds: ‘We’re getting increasingly good at spotting what the driver might be for cancer, but that doesn’t mean we know how to fix it.’

There are still cancers that are only treatable with surgery, chemotherapy or radiotherapy. ‘So there is a lot of work still to be done to increase options for all patients.’

How will genomics affect cancer nursing practice?

‘Cancer genomics is the scientific basis for understanding the process of how cancers form – carcinogenesis – and the response of cancer to treatment,’ says Ms Bell. ‘Therefore, genomics permeates all aspects of cancer nursing practice.’

Examples include health promotion, prevention, detection, surgical and oncological management, and bone marrow transplantation.

As nurses are at the forefront of cancer care, genomic-based roles are already part of everyday practice for many of them, says Ms Bell. They may, for example, be collecting family histories, obtaining informed consent for genome testing or administering gene-based cancer therapies.

Translating sometimes complex information for patients and explaining ethical issues relating to genomics are also integral to many nurses’ roles.

How can nurses extend their knowledge of genomics?

Much of what nurses do now in the field of genomics was kick-started by the transformative 100,000 Genomes Project, which sought to reveal new diagnoses and treatments for people with cancer and rare diseases by sequencing genomes from NHS patients.

DNA sequencing
DNA sequencing. Picture: iStock

After the 100,000 genome was sequenced in 2018, the government published Genome UK, its national strategy to develop ‘the most advanced genomic healthcare system in the world’.

To succeed in that aim, the strategy says that over the next ten years the government will ensure all graduating health professionals, including nurses and midwives, have a level of knowledge and awareness of genomics ‘relevant to their role’.

Genomics and colorectal cancer

Jeanette Ribton, nurse consultant specialising in colorectal cancer at the Clatterbridge Cancer Centre NHS Foundation Trust
Jeanette Ribton

Nurse consultant Jeanette Ribton specialises in colorectal cancer at the Clatterbridge Cancer Centre NHS Foundation Trust on the Wirral.

With a background in acute oncology and chemotherapy, she has witnessed the devastating side effects of fluoropyrimidines – ‘the backbone of treatment for colorectal cancers’ – on some patients.

She explains that an enzyme called DPD made by the liver breaks down 80-90% of this group of substances.

But some people have either a complete or partial DPD enzyme deficiency. This can lead to rapid-onset and sometimes life-threatening toxicity if those patients are given fluoropyrimidines.

People who experience such a reaction often require intensive support in hospital, says Ms Ribton. ‘For these patients, it takes a long time to recover – weeks to months. It delays potential further chemotherapy so it can have an impact on their cancer. They really do struggle.’

But screening patients for a genotype called DPYD means scientists can now detect genetic variants that lead to DPD enzyme deficiency.

Screening to detect genetic variants

Ms Ribton explains that the screening is done via a blood test, with results typically back from the lab in three to five days.

Colon cancer
Colon cancer. Picture: iStock

The test, which at Clatterbridge began with a pilot early in 2020, is done before any treatment with fluoropyrimidines is initiated.

‘If we screen for the DPYD genotype and detect those variants which we know can lead to DPD enzyme deficiency, it can help us to personalise the medicine and individualise the dose to that particular patient,’ she says.

‘Genomics is huge. We’re personalising medication at the moment in numerous ways and we’ve already got a lot of targeted therapies’

‘There’s a lot of consensus among governing bodies that this is now an essential thing to do and we must be offering it to all our patients.’

Looking to the future, Ms Ribton says more tests similar to this will become available, allowing clinicians to tailor treatment in many more areas of cancer care. ‘Genomics is huge. We’re personalising medication at the moment in numerous ways and we’ve already got a lot of targeted therapies.’

One of the most exciting developments is testing for ctDNA, or circulating tumour DNA, which can detect whether there are cancer cells present in the blood after cancer treatment, Ms Ribton says.

‘That’s only being used in clinical trials at the moment, as far as I’m aware, but it would be a huge step forward.’

Read more about DPD enzyme deficiency on the Cancer Research UK website.

Oncology nurse specialist Ms Miles says: ‘The legacy of the 100,000 Genomes Project is that genomics is now part of mainstream care, so every cancer nurse needs to know something about genetics.’

In ten years’ time will genomics be further embedded in cancer nursing practice?

‘Absolutely. It’s becoming part of our language, part of the diagnostic workup of the patient. Knowing his or her genetic status is going to make a huge difference in how we treat that patient, how we help our patient’s family, around surgery and drug planning, and whether to give drugs or not give drugs,’ Ms Miles adds.

‘[Having a genetic profile] will then dictate a treatment that will really work for patients with cancer. We’ll know what their cancer is, what’s driving it and how to stop it’

Anne Croudass, Cancer Research UK lead research nurse

‘And genomics is moving so fast. It’s just incredible – and very exciting.’

Ms Croudass says that further down the line, ideally every patient will have a genetic profile of their cancer.

‘That will then dictate a treatment that will really work for them. We’ll know what their cancer is, what’s driving it and how to stop it.’

Fifteen years would be an ‘optimistic’ timescale for that to happen, she suggests.

‘But that’s the direction of travel and that’s why people are so excited about genomics.’

Where can I find out more?

Health Education England’s Genomics Education Programme is a good place to start. It includes online courses, videos, bite-size learning and a section explaining the relevance of genomics to different professions, including nursing.

The NHS England website includes a section on genomics as well as details of the NHS Genomic Medicine Service, which aims to ‘harness the power of genomic technology’.

A regional infrastructure, called Genomic Medicine Service Alliances, will help embed genomics in NHS care. An update for senior nurses explains the role of nurses in these alliances.

In a YouTube video, oncology nurse specialist Ms Miles describes how she recruited a young patient, Libby, to the 100,000 Genomes Project.

Libby’s mother explains how proud her daughter was to take part in the research before her death aged 25, and how genomics revealed that Libby’s rare cancer was not inherited and therefore unlikely to affect her brother, George.

Macmillan Cancer Support’s online resources include information on genetic testing.

Listen to the Nursing Standard podcast: what does genomics mean for nurses?

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