Recent headlines about the NHS expanding the use of genomic testing have brought personalised medicine into the spotlight. It is an exciting area of healthcare, but for many patients and families it has also raised an important question:
“Can I already access genomic testing on the NHS?”
The answer is yes – in many situations, genomic testing is already available for eligible NHS patients, including some people diagnosed with rare cancers such as Leiomyosarcoma.
What is genomic testing?
Every cancer develops because of changes, known as mutations or alterations, within a person’s DNA.
Genomic testing looks at these changes to build a clearer picture of the cancer. Rather than simply identifying where a tumour is in the body, genomic testing can help doctors understand the biology of the cancer itself.
This information may help clinicians:
- Confirm a diagnosis
- Identify genetic changes driving the cancer
- Inform treatment decisions
- Determine whether targeted therapies or clinical trials may be appropriate
- Improve understanding of rare cancers through ongoing research
Not every test looks at the whole genome. Depending on the clinical situation, testing may examine a single gene, a panel of genes or, in some cases, the entire genome.
Isn’t this something new?
The recent BBC coverage has focused on the Government’s longer-term ambition to expand genomic medicine across the NHS.
However, genomic testing itself is not new.
Since 2018, NHS England’s Genomic Medicine Service has been offering genomic testing for patients who meet specific clinical criteria. Today, specialist teams across England can request a range of genomic tests through the National Genomic Test Directory, including whole genome sequencing for certain rare diseases and cancers.
The latest announcements are about expanding and developing these services further, not starting from scratch.
What does this mean for people with Leiomyosarcoma?
Leiomyosarcoma is a rare and complex cancer.
Because it is uncommon, every opportunity to learn more about the disease is incredibly valuable.
Depending on an individual’s circumstances, genomic testing may already form part of their diagnostic or treatment pathway, particularly if they are being treated at a specialist sarcoma centre.
The results may help clinicians better understand the tumour and, in some cases, identify treatments or clinical trials that may be suitable. Not every patient will benefit directly from genomic testing today, and it does not yet provide all the answers. However, every test also contributes to improving scientific understanding of Leiomyosarcoma and other rare cancers.
Can I ask about genomic testing?
Absolutely.
If you have been diagnosed with Leiomyosarcoma and are unsure whether genomic testing has been considered, it is entirely reasonable to ask your specialist team.
Questions you might ask include:
- Has my tumour undergone genomic testing?
- Would genomic testing be appropriate in my case?
- Am I eligible under the NHS Genomic Medicine Service?
- Could genomic testing influence my treatment options?
- Are there any clinical trials that might be suitable?
Your healthcare team will be able to explain whether genomic testing is appropriate for your individual circumstances.
Looking ahead
The increased focus on genomic medicine is encouraging news for everyone affected by rare cancers.
As knowledge grows and technology advances, genomic testing has the potential to improve diagnosis, personalise treatment and accelerate research into diseases such as Leiomyosarcoma.
At Leiomyosarcoma Research UK, we welcome the continued investment in genomic medicine and hope it leads to greater opportunities for people living with this rare cancer.
Research, collaboration and earlier diagnosis all play an important role in improving outcomes, and genomics is becoming an increasingly important part of that journey.
If you would like to learn more about Leiomyosarcoma Research UK and our work supporting research, awareness and patients across the UK, please explore the rest of our website.