Realising the promise of genomic testing across oncology

Unlocking the secrets of the human genome has long been an ambitious pursuit for researchers around the world.

Over the past two decades, innovative research efforts, such as the Human Genome Project and 100,000 Genomes Project, have vastly expanded our understanding of the human genome and its role in driving research and development in oncology. Understandably, these ground-breaking studies have captured the attention of many across the industry, acting as a catalyst for new research into the molecular biology of cancer and revealing the biomarkers that help to diagnose and follow the course of disease and treatment outcome.

“There has been a surge in the number of biomarkers discovered through a broader understanding of the molecular pathways involved in the development of cancer, both across solid and liquid tumours,” explains Orlaith Brennan, market development director, Patient & Market Access at IQVIA. “In the past few years, the testing that we can deploy to analyse the genomic profile of a tumour has expanded, and the number of therapies targeting the specific genes and proteins driving cancer cell growth has increased as a result.”

Today, the landscape of genomic testing and research is rapidly progressing, with significant scientific and technological advances driving a paradigm shift in the understanding of oncology at a molecular level. In a small but growing number of tumour types, empowered with a genomic fingerprint of the disease, practitioners can offer patients a truly personalised treatment, one that will address the specific change in the DNA of their tumour.

Optimising pathways for genomic testing in oncology

In 2020, building on the UK’s long and proud history of advancing genomics, the UK Government laid out a detailed plan to embed whole genome sequencing and genomic testing as part of routine diagnostic and treatment care.

Over the past two years, stakeholders have focused on building the necessary infrastructure to support a world-leading genomics hub. In the current landscape, genomic testing in England is delivered through a network of seven Genomic Laboratory Hubs (GLHs), each responsible for coordinating services for a particular region of the country. Alongside the GLHs, seven NHS Genomic Medicine Services Alliances (GMSAs) were launched in 2020 to oversee and coordinate the embedding of genomics into mainstream clinical care and the link with personalised medicine.

“GMSAs are intended to promote education and clinical adoption,” says Dr Julia Beguería, solutions specialist, Patient & Market Access at IQVIA. “There is a good structure in place. However, our analysis would tell us that the implementation and embedding of that structure is still a work in progress.”

This is where Beguería sees opportunities for creative problem-solving and collaboration between stakeholders to optimise diagnostic and treatment pathways. For genomic testing in the UK and Ireland to function seamlessly, the overall vision must extend to all levels of healthcare in all regions.

“National policy is being developed at the NHSE Genomics Medicines Unit, but this needs to be cascaded all the way to local level,” she explains. “What we are seeing is that the vision is perhaps not fully cascaded in terms of challenges with resourcing and ultimately standardised implementation and adoption of genomic testing.

“We are seeing a huge variability because then, ultimately, it’s down to the Genomic Laboratory Hub to agree on the best way that they can work with the patient population or within healthcare professional groups that they are working with depending on their local territory.”

Addressing the need for education and awareness

Of course, to provide patients with the best treatment options, health professionals must first be aware of – and understand – how to use molecular testing in routine care, and what services and technologies are available to them. With each new biomarker discovery and scientific advancement, the healthcare landscape becomes significantly more complex for clinicians to navigate without having a broad understanding of the underlying tumour genomic profile.

“When launching a new targeted therapy, if companies aren’t fully aware of the diagnostic landscape and understand where all the problems or challenges lie in the system, they may fail to optimise the outcome. They could conduct a perfect traditional product launch, but that’s probably not going to be good enough with a targeted therapy, as access to diagnostics is an important pre-cursor to getting access to the actual treatment,” says Brennan.

Given the complexity of the human genome and clinicians’ busy schedules, identifying solutions to enhance education and awareness of genomic testing has become a central focus for government bodies and industry figures. This is not limited to healthcare professionals. As Dr Beguería notes, support should extend to every stakeholder in genomic testing for oncology.

“It is important to ensure that people working in the system – clinicians, pathologists, commissioners, and even policymakers – are fully up to speed with the scientific and the clinical developments relevant for oncology and that they have the tools required to confidently operate in this space,” she explains.

“All stakeholders within the system have different levels of educational needs, which need to be addressed in different forms. They need to be guided and supported by industry to help them understand the best rollout of the various options for genomic testing for the different tumour types.”

Healthcare professionals should also prioritise ensuring that patients have access to up-to-date information about genomic research. These patients have a unique insight into their condition and symptoms, and with accurate treatment information, they can advocate for genomic testing to be included in their treatment plans.

Building a robust and interoperable data library

Unlocking the true promise of genomics is only achievable with an enormous wealth of data. In the UK, researchers and healthcare providers have access to a wide variety of non-identified data sources garnered from patients across the country.

IQVIA has made significant contributions to the development of such resources, including supporting Genomics England to combine clinical and genomics data to accelerate diagnosis and development of personalised medicines and attract global pharmaceutical and biotech investment to the UK.

However, in the current genomics landscape, experts must contend with the quality and interoperability of this data in order to derive actionable insights.

“It’s important that data is standardised so that it’s comparable and provides maximum societal benefit,” says Dr Beguería. “This can be challenging as the amount of data collected is extensive, but that data needs to be accurate and actionable for clinicians to interpret the information correctly.”

Beyond the current application of data in genomic testing, in an emerging area of research, it is also important that today’s generation of clinicians continue to contribute valuable data to establish a connection between current standard of care and further clinical research.

“Information that appears to be irrelevant today could be highly relevant tomorrow,” explains Brennan. “The scientific benefits of a broader data set may not add to or improve the outcome for an individual patient today, but because it goes into a repository, it has the potential to provide insights, which may become relevant and actionable in the future.”

Dr Beguería agrees, “It’s like creating a library of data that you still don’t know how to interpret, but one day, you’ll have a great data source, which will help us understand the drivers of disease across tumour types.”

Preparing for the next generation of genomics testing capabilities

Access to genomic testing can be life-changing for patients across the UK and Ireland. Each small sample sent for analysis contains a wealth of information about the nature of that individual patient’s cancer. These are beneficial insights that can inform diagnosis decisions and select the most effective treatments for each individual patient.

With an understanding of how a tumour is likely to react to a specific treatment, clinicians can work with patients to develop an informed treatment plan, ensuring that the optimal treatment option is used at the right time – improving the patient’s quality of life.

“It’s important to involve patients at all levels of genomic research,” says Brennan. “Patients need to be aware of the best options for their healthcare and if there is a genomic answer to questions about their cancer diagnosis or treatment.”

Beyond education, Brennan spotlights the importance of making genomics services accessible to ensure that all patients across the UK and Ireland can benefit from the promise of genomic testing as the sector evolves.

“Fundamentally, the testing structure is set up on a centralised basis across England, but equality of access to treatments will need to follow as part of that,” she explains. “If the implementation isn’t there on an equal basis across the country, if there are still pockets of brilliance, then all patients aren’t being treated equally. It’s important to have a level playing field for all patients.

About the interviewees

Dr Julia Beguería

Dr Julia Beguería, healthcare solutions specialist, IQVIA, is medical doctor by training, also holding postgraduate studies in Health Policy. Her previous experience at IQVIA involves Market Access, Strategy & Business Planning and Account Management

Orlaith Brennan

Orlaith Brennan, market development director, Ireland IQVIA is a pharmacist by profession, Orlaith has over 25 years industry experience ranging from community practice to national policy development. She has worked in commercial and strategic roles in distribution and government affairs, including market access and national pricing negotiations.



IQVIA is a leading global provider of advanced analytics, technology solutions and clinical research services to the life sciences industry. IQVIA creates intelligent connections to deliver powerful insights with speed and agility — enabling customers to accelerate the clinical development and commercialization of innovative medical treatments that improve healthcare outcomes for patients. With approximately 77,000 employees, IQVIA conducts operations in more than 100 countries. Learn more at

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