New research published today showcases the importance of whole genome sequencing for our cancer patients

Everyday patients benefit from genomic testing. New research published today shows how important genomics has become in the treatment of cancer.

The findings, published today by Genomics England in Nature Medicine, show just how much doctors and scientists have learnt over the past 5 years about how genetics can influence cancer and inform how we treat it.

Ian Hartley from South London, was one of the first people to benefit from the new knowledge that genomic testing can offer. Ian had bowel cancer and was involved in the research study where people had their whole genome sequenced alongside the genome of their cancer tumour. Those tests revealed that Ian may develop increased side effects and that his chemotherapy dosage would need to be adjusted.

“I didn’t even pause to think about it. I didn’t think it would benefit me, but I wanted to do everything I could to help those who followed in my footsteps.  That decision meant that I avoided many of the horrible side effects that come from chemo. I didn’t get off scot-free but I count myself as very lucky.” said Ian.

The study, which is the largest of its kind, analysed data from over 13,000 people with 30 different types of solid cancer tumours, and was part of the national 100,000 Genomes Project. Researchers combined their whole genome data alongside routine NHS data such as X-rays, MRI, blood tests and treatment plans. Their analysis identified specific genetic changes in the cancers which affected survival rates and patient outcomes including:

  • 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 DNA changes, known as structural variants, were identified that can impact clinical care and treatment.
  • In over 10% of ovarian cancers, the study pinpointed inherited risks offering crucial insights for clinical care.

The analysis also revealed patterns across several cancers and uncovered different types of genetic changes that might explain response to treatments 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.

Five years on, Ian is well and enjoying retirement. He was treated by Oncology Consultant and Cancer Genomics Lead at Guys & St Thomas’ Hospital, Dr Nirupa Murugaesu, who is also an author on this report. Nirupa has been with Ian ever since his initial diagnosis.

“Ian was one of the first patients who underwent whole genome sequencing through the 100,000 project. Thanks to Ian, and people like him, we learnt that we could tailor chemo dosages for each patient. Now five years on, we test this with every patient but back then this was new research and new knowledge. Ian’s participation helped us to progress significantly and benefit many many more people.”

If you work in oncology, find out how genomics can help you and your patients. We have a range of information and learning opportunities that will work for you.

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.