Blog: Genomics Research in Orthopaedics – Problem solving and process refinement

By Beulah Dilipen, Genomics Research Nurse at the Royal Orthopaedic Hospital

Genomics is helping to identify new diagnostic pathways across healthcare, and here at the Royal Orthopaedic Hospital (ROH), one of the founding members of the NOA, we’re utilising Genomics in tandem with our bone and soft tissue sarcoma research. Nurses play a critical role in delivery of patient care, and this translates through to research and medical advancements.

At the ROH, we have successfully embedded Genomics as a standard of care and have spent the last year refining our process.

As a leading sarcoma unit, we see a high proportion of sarcoma patients. Whole genome sequencing enables the patient and the Oncologists to know the unusual changes in the genes responsible for the sarcomas and the most effective treatment available, it also informs them if they have inherited and if their family members are at a higher risk. In addition, it provides opportunity for the patients to participate in the bone and soft tissue sarcomas research here at ROH.

The team is currently made up of a dedicated Genomics Lead and Genomics Research Nurse. The Genomics Nurse’s role is to identify and approach patients to discuss the benefits and maintain a record of patients signed up for Whole Genome Sequencing (WGS), as well as collect and track the samples via their standard pathway within the hospital. This role is funded by the Bone Cancer Research Trust and we’re also supported by Genomics England via the Genomic Medicine Service Alliance (GMSA)

While being the global leader in orthopaedic oncology, we’re also a small Trust with around 1,300 staff. This combined with a small Genomics Team, the need for introducing new research efficiently and effectively was key.

There were several challenges we needed to overcome first, and promoting WGS as a brand-new standard of care across the whole Trust was the first hurdle. Because the ROH had previously been involved in the pilot study of the 100,000 genomes project, WGS was seen as limited to research, not standard care. As with any new process, there was also the challenge of engaging the relevant departments and ensuring full co-operation.

We’ve now embedded WGS as part of patients’ treatment plans within Oncology services and during our daily and weekly multi-disciplinary team meetings (MDTs). This approach was key to identifying patients eligible for WGS without impacting on consultant time. The weekly sarcoma multidisciplinary team (MDT) meeting provided an ideal opportunity for this as the meetings regularly take place and are well-attended and enabled all consultants within the team to engage in the research.

This approach also supported the Radiology, Pre-Operative Assessment Clinic and Theatre departments to understand the importance of WGS and the service requirements, as well as be able to work independently and alongside the Genomics Team. This was essential as being a small team, we needed the wider Trust to support without being wholly reliant on the Genomics Team and the Genomics Research Nurse role. 

We also identified a clear pathway for WGS including establishing and implementing the best method for the storage and transport of tissue samples from CT through to histopathology, and finding a solution for out-of-hours patient issues as the Genomics Research Nurse role is part-time. We have extended phlebotomy services to WGS as well and are in the process of developing a robust electronic base. We are also grateful for the support of Birmingham Children’s Hospital, in particular Abigail Gilbert, Genomics Nurse at BCH for supporting whole genome sequencing for our ROH Paediatric patients.

I am proud to be part of the cutting-edge WGS service offered by the NHS and feel privileged to introduce this service at ROH as a standard of care for our eligible cancer patients.We’re now in a position where we have developed an effective model for Whole Genome Sequencing so we can carry out genomics sustainably. Now we’re focused solely on patients with suspected sarcomas, but the aim is to roll WGS out to all patients in the future. There’s more we can do to embed WGS across the wider Trust including empowering all our departments to work independently and offer training in Genomics so we have a wider knowledge base here at ROH. As we look ahead to the rest of the year, I’m looking forward to my part in this challenge.

Picture of Beulah Dilipen

Beulah Dilipen

Genomics Research Nurse at the Royal Orthopaedic Hospital