Gene profiling or tumour profiling or genomic testing

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Dr Metcalf describes where tumour samples for this genetic profiling come from in this short video here.

Download a printable version of our leaflets here.

This material has been produced by Salivary Gland Cancer UK in collaboration with Roche Products Limited who have provided funding and participated in the development of this material

What is 'gene profiling'?

Advances in medicine mean salivary gland cancers can be tested to discover the detail of the genetic code of the tumour.  This is sometimes called 'tumour profiling' or 'genomic testing'.

Some tumours develop genetic markers which we can identify and which can help us treat that tumour.  A sample of your tumour is tested at an NHS lab to look for particular genetic markers. The result is called a gene profile and this is sent to your doctor.

Depending on what the report shows, this could help you and your doctors in a number of ways:
▶ A standard approved drug treatment may be available on the NHS
▶ Drugs that work on specific tumour profiles have been proven to show they help patients live longer or have less side effects than other treatments
▶ A drug treatment that is still being tested may be accessible via a clinical trial. Clinical trials determine if new drugs do help stop the tumour growing or not.  These treatments are not yet approved for general use and are only offered to some patients.

The information in your gene profile may help highlight the risk of recurrence of the cancer following surgery or radiotherapy. This can be helpful when planning what follow-up to arrange after surgery and when making personal or practical plans in the future.

Types of salivary gland cancers

Salivary gland cancers start in the head and neck and in other parts of the body. They usually grow in the salivary glands in the side of the face and under the jaw bone.

Sometimes, the same type of cancer can arise in other parts of the body like the airways, skin, tear ducts and breast and these are often called salivary gland type cancers.

There are around 25 types of salivary gland cancers. Your treatment will vary depending on which type of salivary cancer you have:
▶ There are many ways of typing a tumour
▶ Symptoms, scans and cells can help to tell which tumour type is present
▶ Gene profiling is a more recent way of typing.

Medical teams use lots of different ways to build a detailed picture of each patient. These include the history of symptoms before diagnosis, what the cancer looks like on scans and how it looks under a microscope.

Finding the exact tumour type can be difficult in salivary gland cancer - if you want to know more, click here.

How does this help?

If the profile of your tumour means it is suitable for treatment by an existing drug, or shows that you could be a good candidate for a drug trial, it could help improve your prognosis.

Understanding more about salivary gland cancer is the best way to develop new and better treatments that help more people live longer and be cured of this disease.

Changes in the makeup of the cells within a tumour may be the reason for it growing. Some drug treatments can find these specific changes, and stop tumours growing and make them shrink.

Tailoring a treatment or an existing drug to attack the makeup of your particular tumour is known as 'personalised medicine'.

Studies on patient tumour and blood samples allow researchers and medical teams to get as much information as possible from every single patient with salivary gland cancer. This helps us understand the differences between individual patients and use this understanding to develop new and better treatments for the future.

Donating a sample of your tumour will also help other patients in the years to come. The greater the number of samples available to researchers, the better the chances of finding new, effective treatments.

What to do next…

There is also a national salivary gland cancer research programme at The Christie NHS Trust, a cancer centre in Manchester, and you can be involved. The Christie is building a library of salivary gland tumour samples, called a 'biobank'.

You can donate your tumour to the biobank if you are undergoing or have had surgery anywhere in the UK to remove a salivary gland tumour. Even if your surgery was some time ago, your tumour sample can be used in gene profiling.

Research on patient biobank samples has been critical to developing new treatments for salivary gland cancer.

To learn more about the tumour biobank, watch this short video here.

To be involved and to place a sample of your tumour with the biobank, contact Dr Metcalf’s Clinical Secretary Jennifer Hill: Telephone: 0161 956 1167, Email: [email protected]

There is a video on our YouTube channel featuring Dr Rob Metcalf talking about how tumour profiling works.  To see the video, click here.

Join the community

Salivary Gland Cancers are rare, with limited treatment options and patients face many challenges that are unique to these cancers.

The Salivary Gland Cancer Youtube channel features videos of patients, talking about their diagnosis and treatment. To see Alison talking about her diagnosis, treatment and gene profiling her tumour, click here.

Salivary Gland Cancer UK is focussed on collaboration and bringing people together to address the unmet needs of patients and their supporters.

Clinicians and patients working together to improve outcomes and driving forward research.  We host regular networking meetings, provide support and up-to-date information, and opportunities for members to input into research to drive things forward.  Why not join our network?

'Harnessing the UK's genomics expertise to improve patient outcomes' ABPI, Nov 2022. Produced in collaboration with SGCUK and others

This report describes both the strengths and weaknesses of the UK’s genomics offer, identifying how the sector can work together to attract further investment and deliver an enhanced offer for patients and their families.

You can read the report here and the recommendations summary, below:

Genomic testing

To deliver better patient care, genomic medicine services across the four UK nations should standardise processes, referral pathways and timelines for genomic testing, ensuring testing is delivered in clinically relevant timelines. Progress should be tracked via the publication of annual reports on performance metrics and user feedback from healthcare professionals, industry, patients and their families.


To build genomic medicine services that can maximise patient access, it is vital that the health systems in all four UK nations incorporate the needs of the genomic workforce into their long-term strategic workforce planning, ensuring there is a recruitment, retention and development strategy to grow the genomic medicine service workforce. In support, UKRI should work with industry partners across research councils to establish an education and training programme for PhD students and post-doctorates which supports upskilling in translational genomic research approaches.


Ensuring interoperability and connectivity between flagship research programmes and across genomic and health data assets is key to enabling genomics research. The UK government and the NHS should drive this by fully delivering the Data Saves Lives strategy and the Accelerating Genomic Medicine in the NHS strategy, to ensure that datasets can be used to discover new medicines and develop them in clinical trials.


MRC-UKRI should partner with industry, academia and charities to scope and deliver the UK Functional Genomics initiative, ensuring that public funding is used to create a globally competitive offer that leverages further industry investment and partnership for researching ground-breaking new approaches to improve our understanding of how genetic changes cause disease.

The healthcare systems in all four UK nations should work with industry and regulators to enhance the current horizon scanning function for genomic advances and technologies, to ensure the genomics medicine services adopt new innovations, in line with global trends.

'Tumour agnostics - realising the potential of precision medicine' Report, Nov 2022

In 2022 we were part of the roundtable discussion, informing this report.  It can be accessed here.

'With advances in our understanding of cancer genomics, we are seeing exciting breakthroughs in the development of new kinds of targeted therapies. But to ensure these therapies are available to patients who are most likely to benefit from them, a precision medicine approach to treatment, reliant on genomic testing, will be essential. However, for such an approach to be effectively delivered in the NHS, supportive policy developments are needed. 

To understand the most important policy issues posed by the current and future use of precision medicine and genomic testing in the NHS, we sponsored the charitable think tank PHG Foundation to conduct research with key expert stakeholders. From this research we have developed our ‘Tumour agnostics: realising the potential of precision medicine’ report, which outlines key recommendations for employing precision medicine for tumour agnostic and other targeted cancer treatments within the NHS.

Notably, we recommend:

  • A consistent NHS ‘genomics first’ approach to diagnosis and treatment
  • Future-proofing NHS cancer panel testing 
  • Collaboration between professionals and patients to raise awareness of genomic testing for targeted treatments'