The report - Understanding consanguinity-related child deaths - highlights the growing complexity of genetic care in paediatrics and includes two recommendations (recommendations 2 and 4) for the College and other partners.
The findings reinforce what many in our workforce are already experiencing: paediatric practice now requires greater confidence in discussing genetic inheritance, assessing risk, and knowing when to bring specialist colleagues into a child’s care pathway. We recognise the emphasis on the “unknown unknowns” that paediatricians can encounter when navigating genetics without formal training or structured support. This is especially relevant given the increased ‘mainstreaming’ of genomic testing in the NHS.
In response to the report and its recommendations, Dr Jan Dudley, RCPCH Registrar, said:
The report includes clear recommendations for the RCPCH, and we agree with their intent. The focus on strengthening paediatricians’ knowledge and confidence in understanding genetic inheritance patterns and understanding the increased likelihood of recessive conditions in consanguineous families, is important. The College recognises the need to ensure our paediatric workforce is equipped with the right skills, guidance and support.
The report raises important issues for children, families and paediatricians. The College is committed to supporting members to navigate these challenging areas of practice with confidence and sensitivity. We will continue to work with partners across the system to ensure paediatricians have access to the skills, resources and specialist input they need. We will now consider how best to take forward the recommendations for the College.