Compelling evidence for use of whole genome sequencing in standard cancer care

18th January 2024

Combining routine clinical data with whole genome sequence (WGS) data at scale supports clinicians in the delivery of precision cancer care, according to new landmark research.

Published in the journal Nature Medicine, the study showed that WGS could provide a more comprehensive view of a tumour’s genetic landscape by detecting various genetic changes using a single test.

Led by Genomics England, NHS England, Queen Mary University of London, and the University of Westminster, researchers analysed data covering 33 types of solid tumours collected from 13,880 participants with cancer in the 100,000 Genomes Project.

By looking at the genomic data alongside real-world treatment and outcome data collected from participants over a five-year period, such as hospital visits and the type of treatment they received, they were able to find specific genetic changes in the cancer associated with better or worse survival rates and improved patient outcomes.

For example, over 90% of brain tumours and over 50% of colon and lung cancers showed genetic changes that could affect how patients are treated, guiding decisions about surgery or specific treatments they might need.

In more than 10% of sarcomas, larger structural variants were identified that have the potential to impact clinical care and treatment.

And in over 10% of ovarian cancers, the study pinpointed inherited risks offering crucial insights for clinical care.

The study also found patterns across several cancers and uncovered genetic changes that might explain treatment response or predict possible patient outcomes.

‘Together, the findings show the value of combining genomic and clinical data at scale to help healthcare professionals make the best treatment decisions with their patients,’ the researchers concluded.

Dr Nirupa Murugaesu, principal clinician – cancer genomics and clinical studies at Genomics England, and oncology consultant and cancer genomics lead at Guy’s and St Thomas’ NHS Foundation Trust said: ‘This study is an important milestone in genomic medicine. We are starting to realise the promise of precision oncology that was envisioned 10 years ago when the 100,000 Genomes Project was launched.

‘We are showing how cancer genomics can be incorporated into mainstream cancer care across a national health system and the benefits that can bring patients.

‘By collecting long-term clinical data alongside genomic data, the study has created a first-of-its-kind resource for clinicians to better predict outcomes and tailor treatments, which will allow them to inform, prepare and manage the expectations of patients more effectively.’

Professor Dame Sue Hill, chief scientific officer for NHS England and senior responsible officer for genomics, added: ‘The insights gained in this study, in which genomic patterns or profiles have been mapped out in thousands of patients with different types of cancer, support and inform the NHS Genomic Medicine Service in providing a comprehensive genomic testing service for patients with cancer and signals a promising future for healthcare as we continue to hone and enhance the NHS use of genomics and tailor interventions for improved outcomes.’

Consensus group calls for routine use of cancer biomarkers and molecular profiling to guide precision medicine 

8th August 2022

All patients’ cancers should be genetically profiled to improve care, say leading health experts

The NHS should offer all cancer patients genetic profiling of their cancers at diagnosis and during treatment to shape care and track how the disease evolves, a consensus group of leading experts has concluded.

Group members said action was needed to ensure use of cancer treatments was routinely guided by information about a patient’s individual cancer.

They called for barriers preventing patients from gaining access to ‘biomarker’ tests to be removed – so genetic information and other tests could routinely be used to select the most suitable precision medicine for each patient.

The consensus group was convened by The Institute of Cancer Research, London, and included nine leading institutions, charities, stakeholder groups and life-science companies, including Cancer Research UK, AbbVie, the Association of British HealthTech Industries, AstraZeneca, Bioclavis, Bristol Myers Squibb, Leukaemia UK and Precision Life and the Association of the British Pharmaceutical Industry.

Biomarker tests look for genetic, protein or imaging ‘markers’ to identify which patients are most likely to respond to treatment. 

It is crucial for clinicians to be able to assess biomarkers so they can select patients with particular weaknesses in their cancers and match treatment accordingly. But the consensus group warned that testing is not always done because regulatory processes and resources have not kept pace with the science.

The statements are calling for a series of changes in the way biomarker tests are developed, made available and routinely used in the UK:

• All people with cancer should have their cancers molecularly profiled as standard within the NHS to identify mutations and guide their treatment – helping them access more personalised and effective treatments, both as part of standard care and by taking part in clinical trials.
• The NHS should be using panel tests to assess many different biomarkers at once – not only at a patient’s diagnosis, but also at intervals afterwards so treatment can be adjusted in line with changes in the cancer.
• Biomarker tests should be routinely developed alongside new cancer drugs to ensure that the right patients are treated, and the cancers are targeted more effectively. Regulations should be reformed to make it much easier to assess biomarkers in trials and get them approved for use.
• The UK’s health technology assessment bodies, such as NICE, should take a more positive view of companion biomarker tests for new drugs – the UK could explore the possibility of offering incentives for companies that bring forward biomarker tests alongside new treatments. 
• The NHS should develop a broader and more transparent directory of biomarker tests, including all the non-genomic biomarker tests that the NHS will provide alongside gene tests.
• Patients and clinicians should be better informed and more aware of the biomarker tests available to them and their benefits. There is currently wide variation in access to biomarker tests in different parts of the UK.

Regulatory barriers to biomarker testing and development have a direct impact on patients – potentially denying them more personalised treatment.

Biomarker testing and development is expensive – currently, the costs of developing biomarker tests often outweigh the financial benefits of doing so, discouraging industry and academia from investing in biomarker research. 

But targeting therapies to those who are most likely to respond would be more cost-effective for the NHS. And clinical trials that use biomarkers to select patients are much more likely to succeed and result in marketing approval.

The ICR and the rest of the consensus group members hope that the calls to action in the new 13-point set of consensus statements will help speed up development of biomarker tests and widen access to them – so that the best treatments can reach the right patients as quickly as possible.

Professor Kristian Helin, Chief Executive of The Institute of Cancer Research, London, said: “We believe every cancer patient should have the opportunity for their cancer to be molecularly profiled to assess biomarkers that can give vital clues about how their disease should best be treated. Biomarker tests can direct treatment precisely to the patients who will most benefit, which can both improve the lives of patients and increase the cost-effectiveness of treatment for the NHS.

“It’s essential that the regulations that govern clinical trials and the approval of new tests and treatments keep pace with the rapidly moving science. At the moment, it can be hard to get new biomarker tests developed, approved and made available for patients. That can in turn act as a disincentive for companies and academics to develop new biomarkers to guide treatment in the future.”