Paediatrics

Genomics in Paediatric Practice

Advances in genomic medicine are transforming paediatric care across the NHS, offering powerful tools to diagnose, manage and treat a wide range of conditions affecting newborns, children and young people.

Genomics encompasses the analysis of the entire genome to understand how variation in DNA influences health and disease. In paediatric practice, this has particular relevance because many rare conditions present early in life and may have a genetic basis.

The role of genomics in paediatrics extends far beyond traditional genetic testing. It supports accurate diagnosis, informs management decisions and enables personalised care pathways tailored to the individual child and family.

There is now the capability to identify inherited and de novo (new) variants that cause developmental delay, congenital anomalies, metabolic disorders, immunodeficiencies and other rare diseases.  This precise understanding can lead to earlier diagnosis.

In practice, genomic testing may be offered when a child’s symptoms suggest an underlying genetic condition or where family history indicates risk.

Tests can range from targeted gene panels to whole exome sequencing (WES) and whole genome sequencing (WGS).

WGS examines all of a person’s DNA and has been shown to improve diagnosis yield (the proportion of tests that provide a clear, clinically meaningful diagnosis), especially for complex and rare conditions. 

For families, genomics helps clarify inheritance patterns, WGS supports informed reproductive choices and enables cascade testing for at-risk relatives. WGS results need to be discussed sensitively, and where appropriate, referral to clinical genetics services for counselling. Interpreting genomic results may be straightforward in some cases but complex in others, such as when a variant of uncertain significance is reported. Clinicians may need to work with clinical genetics teams and participate in multidisciplinary discussions to support accurate interpretation and appropriate communication to families. 

Consent and ethical considerations are central to genomic testing in paediatrics. Obtaining informed consent involves explaining the potential outcomes, limitations and implications for the child and family, including issues around data storage and future reanalysis. This process should be clearly documented. 

Education and training also play a vital role. Paediatricians are increasingly expected to understand genomic technologies, know when to request testing and how to act on results. Resources such as the Genomics Education Programme and GeNotes provide concise, accessible support for clinicians incorporating genomics into routine practice.   

Throughout 2025, we have hosted several Genomics in Paediatric Practice sessions for professionals, and a 'round up' newsletter is avaialble here.

Looking to the future, genomics is set to become more integrated into mainstream paediatric care.

Research initiatives aim to further increase diagnostic rates and enable earlier interventions; These developments present opportunities to improve outcomes for children with rare and complex conditions, while also presenting new challenges in service delivery, workforce development and equitable access.