Reflections on the RCPCH Genomics Programme

Officer for Genomics Dr Ngozi Edi-Osagie and Dr Lara Menzies look back on an active first year of the RCPCH Genomics programme.
two women smiling

Shortly after the 100,000 Genomics Project celebrates its 10-year anniversary, we are proud to be reflecting on our first year of the RCPCH Genomics Programme and our expert Genomics Working Group (GWG) led by Dr Ngozi Edi-Osagie.

When we first advertised the GWG in October last year we stated ‘the use of genomics in clinical practice has markedly grown’. One year on, that statement feels truer than ever. The Genomics England Generation Study (formerly the Newborn Genomic Screening Programme) looks to launch late 2023/early 2024, and the Genomic Medicine Services are ever busier and expanding to try to manage demand for testing. Positive and encouraging stories in the media on successful uses of Genomics in the clinic to change children and their families’ care seem ever more occurring.

Alongside, the College’s Genomics Programme has grown concurrently, spearheaded by the Genomics Working Group assembled by the College. This brings together knowledgeable and engaged individuals from Paediatrics, Clinical Genetics and patient support group representatives to discuss the current challenges facing implementation of genomics into our specialty. The group provides a networking opportunity to ensure that best practices are shared and adopted more widely across our geographical domains.

Throughout 2023, the College were delighted to host several genomics education sessions, including four webinars, one half-day symposium, one session at the RCPCH conference, and an entire Month of Genomics, as well as to launch our Genomics page on the RCPCH website.

We remain thankful to our partners at NHSE Genomics Education Programme for their funding support for several of these. Strikingly, all these events and resources spotlighted different key topics across genomics. However, they all had one underlying message; fundamentally, the prospective power of genomics in paediatrics.

Being a member of the Genomics Working Group enables group learning and valuable insight into the real world challenges of implementing genomics into paediatrics, particularly given the time and resource demands our paediatricians are already facing. Networking between engaged individuals with varied expertise allows sharing of best practice models more widely, and general discussion of how to best approach practical issues. Identification of where recurring difficulties are occurring, and common pinch points within NHS systems, is only possible with clear communication between paediatricians, geneticists, clinical scientists and those representing our patients and families.

We believe that genomics has the potential to crosscut through paediatric specialities. It can provide an early, molecular diagnosis for rare childhood diseases, enabling more personalised therapies tailored uniquely to that child. In addition a genomic diagnosis often facilitates enhanced healthcare for family members of an affected individual, such as genetic counselling, reproductive options and sometimes screening or surveillance for relevant medical conditions. Genomic screening in babies has the potential to proactively detect conditions even before they manifest, supporting proactive medical decision-making, and enabling early clinical counselling support for children and their families as required.

One year on, the ambitions of the RCPCH Genomics programme remain true: prepare members, optimise opportunities, represent members and CYP, and build interest. The College aspiration is to support paediatricians to embed genomics into their clinics. Our webinars are available on demand, and we have compiled a list of ever-growing resources to support clinicians in decision-making. Most recently, members of our GWG developed a ‘one-stop-shop’ flow chart to support clinical decision-making in selecting the most appropriate genetic test in the clinic. We work closely with our partners to share and signpost resources.

However, the RCPCH continues to recognise the enormous workforce challenges facing paediatricians and continues to emphasise that equity of access to genetic services has never been more essential. We continue to concentrate on the issues that affect our members and CYP, focusing on addressing unmet need across the sector, with the ultimate aim of improving children and young people’s health and wellbeing.

Visit our website to learn more about our programme or get in touch at