Sharing learning from the RCPCH Genomics Symposium

On 20 November 2023, we held the first ever RCPCH Genomics Symposium in Birmingham city centre, bringing together paediatricians, geneticists and service user representation from across England. The half-day event hosted five sessions on key areas related to genomics, with the underlying theme of best practice in paediatrics.
Strand of DNA

Best practice in paediatric genomics

The purpose of the day was to create an opportunity for paediatricians to share learning, best practice and experiences from their regional and local models, to share resources and tangible approaches for attendees to implement in their own clinics and to hear from service users about the impact our services have on their clinical journeys.

The sessions were designed to help with the theoretical and practical knowledge of embedding and mainstreaming genomics into paediatrics, with importantly, the ultimate aim of improving child health outcomes.

Dr Ngozi Edi-Osagie (Officer for Genomics and Genomics Working Group Chair) opened the day by welcoming the audience and encouraging a day of open discussion. She thanked the NHS Genomics Education Programme for their support of the event and encouraged delegates to visit the GEP’s website to access a wide variety of resources.

Five sessions

You can download presentation slides from the sessions at the bottom of this page.

The day kicked off with presentations by Dr Sarah Wynn (CEO, Unique) and patient representative and advocate Claudia Beard (representing Syndromes Without a Name (SWAN), UK). Claudia emphasised her role was to give a voice to a family with an undiagnosed child. Sarah emphasised the importance of the patient and family voice and the impact of diagnosis. Although a diagnosis can bring great relief to the patient and family, it is just the first step on a long pathway of care. Claudia talked about her own powerful story of being a patient rep, and explained that over 6,000 individuals per year fall into the category of SWAN, and it can take on average five years to reach a diagnosis. Sarah and Claudia set the stage for the rest of the day, reminding us all why we work in paediatrics, and the power that genomics could have to improve the diagnosis and care for children with genetic conditions.

Next up was Dr Hannah Robinson and Professor Emma Baple from the South West Exeter Genomics Laboratory, talking all things genomic technologies. Each of us has about 5,000,000 genetic variants in our genomes, most of which are benign and make us all individuals. For an acutely unwell child, the R14 scientist team work to identify which one or two genetic variants could be the cause of their undiagnosed rare genetic condition. They emphasised that the MDT working approach they utilise at the laboratory through email communication with referring clinical teams and external specialists really helps in working together to reach a diagnosis for the patients. Emma and Hannah shared information on their quarterly Genomics MDT educational events, which we encourage members who have an interest/involvement in R14 testing to attend.

The third session was led by Dr Richard Hastings (Consultant Paediatrician, Kings Mill Hospital) and Dr Danielle Bogue (Education Development Lead, NHSE), with a focus on resources available to support paediatricians in embedding genomics into clinical practice. Richard talked about his own journey to becoming a ‘genomic advisor’, and the approaches he taken to support colleagues with genomic testing within his local hospital. Danni discussed the early development of the Genomics Advisors Framework, a collaborative piece of work between NHSE Genomics Education Programme and the RCPCH Genomics Working Group, to devise a framework to recruit national, regional and local genomics advisors. Danni and Richard shared resources that the audience could use in their day to day clinics, such as GEP’s GeNotes and the RCPCH Resources page.

The importance of MDT working was spotlighted in the fourth session, led by Dr Sandhya Jose (Consultant, Hull University Teaching Hospital) and Dr Roohi Shrivastava (Specialist Registrar, Guy's Hospital) discussing their experiences of successful MDT approaches. Both speakers emphasised the value of having strong relationships between paediatricians and clinical geneticists. MDT meetings provide the opportunity to discuss cases, involve scientists and clinicians, and foster close links between entire departments. There was a discussion about the changing role of clinicians, and the process of consenting for genetic testing. Families may require counselling and support, and therefore the pathways for patient and family care need to be clear from the outset.

The final session of the day brought rich discussions on the clinical utility, challenges and benefits of whole genome sequencing. Dr Alasdair Parker (BPNA President, Consultant Neurologist) opened by stating ‘it has been an incredible journey’. Alasdair and Dr Lara Menzies (Clinical Genetics Consultant, GOSH) discussed the challenges of WGS testing, including the practical process of arranging the tests, and the importance of equity of access. Both speakers again highlighted the importance of setting up strong and communicative networks, involving clinical geneticists, and the power of genomics in potentially avoiding more invasive procedures.

Considering the future

The day was brought to a close by Ngozi, thanking the speakers and audience for the time. It has been filled with rich discussion, plenty of questions, and many take-home messages.

For the RCPCH Genomics Programme, there were three key take-aways for us to consider:

  1. Influencing education throughout training – integrating more genomics training at the undergraduate level, and throughout paediatric training.
  2. Carving out time for genomics – supporting paediatricians to increase their knowledge of genomics, e.g. by providing training opportunities, learning events, and supporting framework development for advisory roles.
  3. Bringing people together – creating opportunity for networking, discussion and sharing experiences, to avoid ‘reinventing the wheel’ from region to region and ensuring equity of access to testing and education nationally.

Although there are, of course, challenges associated with embedding genomics into paediatrics as business-as-usual, attendees felt the day was inspiring, and there were clear benefits and a prospective power of embracing genomics.

Find out more about the RCPCH Genomics Programme and associated Genomics Working Group, and for any queries, please contact