Another step closer to personalised cancer care

A recent study analysing genetic and clinical data from over 13,000 people with cancer has shown the benefits of using genomics in routine care. This blog highlights some key findings from the study, explaining the current and future impact it may have for patients with cancer.

The project that started it all

UK cancer incidence rates have risen by around 4% in the last 10 years. This means there is a growing need to improve the way we diagnose and treat it.

The 100,000 Genomes Project was a landmark initiative aiming to study the role our genes play in our health. This Genomics England-led project was carried out in partnership with the NHS, using a technique known as whole genome sequencing to study people’s DNA.

Participants of the project include patients with cancer, rare conditions, and family members of those affected. Though recruitment to the project ended in 2018, research and analysis is still ongoing, and the genetic and clinical data volunteered by participants remains stored in the National Genomic Research Library (NGRL).

Approved researchers can use this data to uncover ground-breaking insights into cancer, rare conditions, and the genetic changes that cause them. These insights drive improved diagnosis, treatment, and care for patients and their families.

What is whole genome sequencing and why was it used?

The entirety of someone’s genetic material is known as their genome. It is a complete, end-to-end sequence of DNA that acts as the instruction manual allowing us to survive, function, and grow.

Whole genome sequencing is a technique that lets us look at someone’s entire genome at once. Where other methods just look at sections of the genome, whole genome sequencing aims to read the entire thing.

Researchers can use this method to pinpoint which genetic errors are causing problems for a patient. In those with cancer, we compare the patient’s healthy DNA (in this study from a blood test) to DNA in their tumour(s) and look for differences related to their cancer.

Used alongside existing clinical tests, whole genome sequencing may help us to gain a clearer picture about causes of cancer. It could help clinicians to select treatments for patients on a case-by-case basis, depending on their genome.

The landmark national study...

A study led by Genomics England, NHS England, Guy's and St Thomas' NHS Foundation Trust, Queen Mary University of London, and the University of Westminster, analysed data from over 13,000 participants with cancer in the 100,000 Genomes Project.

This study specifically focused on adult solid tumours, meaning no childhood cancers or cancers of the blood were included in this analysis. 30 different types of solid tumours were covered in total.

Pairs of samples were collected from participants, each pair containing a sample from healthy tissue and a sample from tumour tissue. This way researchers could compare and look for any genetic differences between the two.

By looking at this data alongside routine clinical data from participants, scientists were able to identify specific genetic changes associated with better or worse survival rates and improved patient outcomes.

Here, we highlight some of the most significant findings researchers made and what they might mean for NHS patients. The full findings from the study can be found in Nature Medicine.

What were the results?

This study provides an overview of the number of cancer-causing genes that are actionable. We describe genes as ‘actionable’ when they influence how a patient’s cancer can be managed or treated. In other words, genes that can be specifically acted on.

A well-known example is a type of lung cancer caused by errors in the EGFR gene. There are known therapies that target this gene, and so patients with faulty EGFR genes can receive a specific, targeted treatment.

In this study, researchers found that over 90% of brain cancer cases and over 50% of colon and lung cancer cases were caused by actionable genes. This means that patients with these cancer types may receive a different type of surgery or treatment, depending on the specific genetic cause.

Furthermore, this study provides a wider view of the genetic landscape behind various cancers, including any patterns in the genetic changes that cause them. For example, researchers found inherited risks in over 10% of ovarian cancers, offering crucial insights for clinical care.

Together, the findings show the value of combining genomic and clinical data on a large scale, to help healthcare professionals make treatment decisions with their patients.

So, what does this all mean?

First and foremost, this study shows that using genomic data alongside medical data is highly valuable for us to better understand cancer.

By linking genomic data to real-world clinical data, we can gain a clearer picture of a patient’s cancer. By understanding which genetic causes respond best to which treatments, we can tailor therapy to each individual and create a better chance of a positive outcome.

In this research study, results of the analysis were returned to clinical teams if they could impact how a patient’s condition was managed or treated. This means that numerous participants were directly impacted by the study findings.

Furthermore, this research laid the foundations for standardised genomic cancer testing in the NHS for a wide range of participants, beyond just those in the 100,000 Genomes Project.

These findings are an important milestone as we shift away from a one-size-fits-all approach to cancer therapy, and towards choosing treatments based on what works best for each individual person.

To read more, find the full paper here.

Check out the other research and work from Genomics England in our other research blogs.