Case study summary
Thousands of patients with cancer or a rare disease have taken part in a pioneering national project, offering the possibility of genetic diagnoses and improved treatments, across 16 NHS Trusts that comprise the West Midlands Genomic Medicine Centre (WMGMC).
Across the region, patients with eligible cancers or rare diseases are invited to take part in the 100,000 Genomes Project. Cancer patients have samples taken from their tumour, which is compared to their healthy blood cells, leading to improved knowledge about cancer. Rare disease patients have their genome (their entire genetic code, which acts as a unique fingerprint) compared with family members.
The lead organisation for the WMGMC is University Hospitals Birmingham NHS Foundation Trust (UHB). The WMGMC has led to greater collaboration across the region, including patient sample tracker systems and an image transfer system that is being rolled out across the 16 Trusts.
As of June 22, the WMGMC have recruited 10,832 participants to the project, including 3,473 cancer participants. This makes the WMGMC the leading cancer recruiter and the second largest recruiter overall, out of the 13 GMCs across England. Results are starting to be returned to participants. These include a genetic diagnosis for a patient with a rare disease, after a decade-long diagnostic odyssey, which also means the patient’s family now know the chances of other family members having the disease. Some cancer patients have also been identified as appropriate for other treatments, personalising their treatment. Additional findings have also identified families at a higher risk of breast or colorectal cancer – meaning that family members can be appropriately counselled and followed-up.
NHS England has established 13 Genomic Medicine Centres (GMCs) to help deliver the 100,000 Genomes Project together with Genomics England. Sequencing genomes will improve medical knowledge about cancer and some rare diseases, which can lead to the identification of personalised treatments or genetic diagnoses for individual patients.
The service model
16 local delivery partners (LDPs) make up the West Midlands Genomic Medicine Centre (WMGMC), with University Hospitals Birmingham NHS Foundation Trust (UHB) as the lead organisation.
The WMGMC is led by Clinical Director Professor Dion Morton, a Professor of Surgery and colorectal surgeon, and Hilary Fanning, the UHB Director of Research Development and Innovation. Alongside senior colleagues, they have responsibility for the running of the WMGMC and delivery of the programme. Training, advice, communications and resources are provided across the region, ensuring that eligible patients from across the 16 Trusts are able to participate in, and benefit from, the project.
The West Midlands Academic Health Science Network (WMAHSN) have funded three Genomics Ambassadors to aid recruitment across the region. The Genomics Ambassadors are based in the south, centre and north of the region, and help to recruit and consent patients across Trusts in their area.
The 16 LDPs are all open to recruitment to the 100,000 Genomes Project. Patients with eligible cancers or rare diseases are invited to take part. Following informed consent, NHS staff working on the 100,000 Genomes Project take blood and (in the case of cancer) tumour samples. The genome (entire genetic code) of these samples is then sequenced, providing a unique genetic fingerprint for the individual. Once the results are returned from Genomics England, validation occurs at the lab. A final result is sent to clinicians, who will inform the patient about any diagnoses or potential treatments.
For cancer patients, the outcome of the sequencing might directly impact on their treatment. As a result, there is currently the intention to roll out a 28 day pathway (from consent to results) in the future.
- All 16 LDPs in the region have joined the project. As of August 10th, the WMGMC has collected
- 11,996 samples , comprised of
- 4,236 samples from patients with cancer
- 7,760 samples from patients with a rare disease and their families
- 11,996 samples , comprised of
- There has been growing collaboration across all participating West Midlands Trusts, which will continue beyond the lifetime of the Project
- Some rare disease patients have received a genetic diagnosis, and some cancer patients have been found eligible for more suitable treatments
- Other findings may also help identify families where there is a high familial risk of certain cancers, which will be followed-up as appropriate with appointments and elective surgery.
The team at the WMGMC has identified the two main benefits for 100,000 Genomes Project participants:
- Patients may receive an accurate definitive diagnosis of their rare disease or cancer subtype, and their families may receive important information about inheritance and risk of developing a particular disease.
- As a result of their genome being sequenced, personalised, more effective treatments will be recommended for some patients.
Professor Dion Morton said: “Over the next nine months we expect to receive results for all our participants. Our patients are very altruistic and want to help and support future patients. Genomics is an opportunity for them to do that, but might also have a positive impact on their own family’s future health and identify better treatments for their cancer or rare disease now.
“Sequencing genomes will help define a subgroup of patients who will not respond to a particular treatment. By identifying these patients we can avoid wasting resources on these essentially harmless but ineffective treatments and provide the best treatments possible for the individual patients.”
Hillary Fanning said: “True partnerships across the 16 LDPs have been vital. The 10,000 patients who have participated in the 100,000 Genomes Project have come from across the entire region, thanks to the hard work of colleagues across the Trusts.”
James ‘Jim’ Wright was one of the first participants in the West Midlands to receive a result – his sequenced genome provided a genetic diagnosis for his rare disease. James’ parents, Karen and Kevin, said: “This result is great news for us. We now not only have a genetic diagnosis for Jim, but also know the chances of any children he or his brother have in the future being affected by CMT.”
James said: “It’s really exciting to have a diagnosis. Hopefully it’ll help other families in the future.”
- Staff working in the health service want the very best for their patients – this can be used to get everyone’s buy-in.
- Be willing to give things away for free and share resources across the partnership – this includes expertise, knowledge, time and other resources.
- Develop a clear vision of how the project will benefit patients and share this with every CEO and clinicians including your oncology / pathology colleagues across the partnership.
- Be clear about how the benefits for current and future patients outweigh worries over financial and political risks.
- Don’t underestimate how altruistic our patients are. Our experience has shown that patients are very keen to help other and future patients, even when it may offer no direct benefit to their own disease outcome.