Genomics is used throughout a range of specialities in paediatrics, and often in highly multidisciplinary teams, so we aimed for the conference session to represent this broad range. The session therefore featured speakers covering topics such as pharmacogenomics, the patient perspective and genomics in paediatric education.
First up was Dr Ajit Mahaveer (Consultant Neonatologist – Manchester) from the PALOH study (Pharmacogenetics to Avoid Loss of Hearing). He described how the Manchester University NHS Foundation Trust-based team devised a genetic test to screen out babies for whom using a certain antibiotic would lead to hearing loss. They then developed this approach into a point-of-care diagnostic test which would quickly and accurately inform clinicians which babies might need alternative management methods.
In England alone, the test is predicted to save around 200 babies from hearing loss every year.*
Next, Dr Ellie Hay (Consultant Clinical Geneticist, Great Ormond Street Hospital) spoke to the audience about GeNotes, a “one-stop resource” to support clinicians in using genomics in their practice. Developed by NHS England’s Genomic Education Programme, the website features both clinical scenarios and opportunities for extended learning. Being a peer-reviewed resource, Dr Hay also invited the attendees to contribute to the development of the site, particularly the paediatrics section. Further information about paediatric GeNotes can also be found on the Genomics Education Programme and RCPCH Genomics websites.
The final talk of the session was from Anna Jewitt, a specialist rare disease nurse based at Great Ormond Street Hospital. Working with patients who have SWAN (Syndromes Without A Name), Anna shared some moving stories of how genomic testing has benefitted the lives of many such patients. She highlighted how even with the advancement of genomic technologies, there are still patients who are left without a diagnosis. She stressed the importance of ongoing research into rare diseases and the need for greater collaboration between various healthcare professionals.
A lively question and answer session followed, which was chaired by Dr Ngozi Edi-Osagie, RCPCH Clinical Officer for Genomics, with the audience eager to know more about how they could implement genomic testing into their own areas of practice. Stories of best practice were shared, giving colleagues valuable takeaways to consider for their own clinics. At the end of the session, Dr Edi-Osagie thanked the audience and drew the afternoon to a close.
The success of the session emphasised how genomics is already becoming deeply embedded into many aspects of clinical practice, underlying several specialties.
The use of genomics across sectors was also exhibited by prevalent discussions on genomics in other sessions, including Paediatric Metabolic Emergencies, and Clinical Service Provision. It clearly demonstrated that there is interest from paediatricians in learning how to effectively utilise genomics and associated tests in paediatrics. However, it also raises the ongoing concern regarding the need for resources and collaborative working practices to help support the transition into embedding genomics as business as usual and manage workload effectively.
Attendees reported that they enjoyed the opportunity to network and catch up with colleagues at the conference and talk about how genomics has individually impacted their practice. As the impact of genomics in paediatrics continues to grow, our ambition continues to be that the RCPCH annual conference will act as a valuable platform to showcase new developments and allow for meaningful collaborations between professionals in paediatrics.