Over the last decade, the use of genomics in clinical practice has markedly grown. The relative decrease in cost and increase in accessibility of genomic testing has been further bolstered by the establishment of numerous government-driven national ambitions, examples being the Genomic Medicine Service, and the 100,000 Genomes Project. The latter, highly ambitious, programme successfully sequenced the whole genomes of over 100,000 individuals with childhood conditions, rare diseases and cancers, with the primary aim of finding a genetic cause of their illness.
A paediatric legacy of the 100,000 Genomes Project
The legacy of the 100,000 Genomes Project is profound. As well as aiding the diagnosis of the underlying genetic cause of many rare diseases that may have previously gone undiagnosed for months, research studies are on-going using the genomic data from the study. Data accessibility has been a key element in enabling researchers to develop new treatments and medicines for these rare conditions.
Indeed, the great success of the 100,000 Genomes Project has paved the way for Genomics England's latest pilot study – the Newborn Genomes Programme – an exciting national programme aiming to sequence the genomes of approximately 100,000 newborns, to detect genetic conditions that are actionable before the child's health may deteriorate.
What does genomic sequencing of newborns mean?
Using genomic sequencing to screen newborns is a paradigm shift in the way we diagnose and manage disease. Traditionally, children and young people present with symptoms and signs of a disease, and genomic sequencing has been used as a diagnostic tool. By screening newborns for a significant number of diseases, we will be able to identify diseases before many manifest. Support and care can then be provided to detect problems related to the disease much earlier, introduce therapies at a time in which they may be more clinically effective and families can receive counselling to aid them to plan for the future.
Genomics, therefore, will facilitate early, comprehensive and accurate diagnosis of disease, and enable early personalised treatment for a holistic, person-centred approach to care delivery. Genomic information will also aid research to develop personalised novel targeted therapies for childhood diseases.
The prospective power of genomics in healthcare is therefore widespread and impactful. The Royal College of Paediatrics and Child Health (RCPCH) understands that there is the need for wider discussions relating to implementation, service provision, and the ethics of embedding genomics into the NHS, and the impact this may have, particularly on the NHS workforce.
The RCPCH recognises the current challenges facing the workforce, particularly following the extraordinary circumstances of the COVID-19 pandemic. Equity of access and provision of clinical services, including genomics, has never been more essential.
Nationally, the aspiration is to harness the power of genomic technology to improve population health and provide consistent care across the country, delivering on the commitments of the NHS Long Term Plan.
The RCPCH is therefore keen to support the paediatric workforce in preparing for this prospective expansion and utility of UK-wide genomic services. Being at the forefront of conversations about paediatric genomics, will enable us to contribute to the decisions that affect RCPCH members and beneficiaries the most. In doing so, the RCPCH hopes to engage and empower both the public, RCPCH's children and young people beneficiaries, and medical professionals in their understanding, embedding, and embracing of genomics in clinical practice.
How paediatricians can get more involved
To advance this exciting area of work, the RCPCH has established a new Genomics Working Group (GWG). The GWG will harness members' expert knowledge and enthusiasm to provide strategic guidance to the RCPCH with respect to developments across paediatric genomics, including on the RCPCH's activities and position on genomic medicine. The aim is to improve outcomes in child health by addressing unmet need across the sector.
There are several areas of interest that members of the GWG may wish to engage with, including education and training, screening, ethics and consent, impact on professional workforce, research/innovation and long-term data use, and the impact on children and young people and families. These areas of interest will facilitate members and beneficiaries to create any required action across several essential areas of genomics, which will impact the patient pathway at multiple points, at both the public and professional level.
We want to hear from you!
The RCPCH is recruiting for several positions within the GWG and is particularly keen to hear from members that have an interest in genomics and related fields, including education and training, paediatrics, neonatology, workforce impact, screening, genetics/genomics, national programmes, or other related areas. Successful applications will be nominated through an open recruitment process. The nominees must be a member or fellow of the RCPCH. Your enthusiasm for the topic is the most important!
If you are interested in becoming a member of the GWG, please find out more and apply here (application deadline 31 October).
The genomics programme and the GWG will be supported by the RCPCH's genomics project manager and Research and Evidence team.
For more information or any queries please contact Dr Charlotte Douglas, genomics project manager at the RCPCH, directly at genomics@rcpch.ac.uk.
Leave a Reply
You must be logged in to post a comment.