We are working on a pilot workforce transformation in paediatrics to embed paediatric genomic practitioners in neonatal and paediatric intensive care units and paediatric neurology.
We get referrals mainly from NICU, but PICU as well, where babies and children are acutely ill and are likely to have a monogenic condition. We arrange to meet the family on the unit to discuss genomic testing with them to ensure that they understand what testing is, and also the possibility that they might get a rare disease diagnosis that could have serious future implications for them and their child. If the family consent, we coordinate sample taking for the parents, usually in outpatients, and the child.
We are working on our involvement in the results giving process, as we are aiming to develop a full end-to-end care pathway.
We also get referrals from neurology clinics where genomic testing has been discussed with families who have a child with a serious neurological condition, like severe hypotonia. We contact the family after clinic to make an appointment, usually by phone or over ‘Attend Anywhere’, a secure NHS video call service for people with pre-arranged appointments, as the neurology clinicians see patients from a wide area including parts of Essex, Norfolk and Suffolk as well as Cambridgeshire.
How did you become paediatric genomic specialist nurses?
We are both registered children’s nurses. I [Shelby] have worked in NICU for most of my career. I was interested in a specialist role and had heard of genomics as my friend’s baby was diagnosed with cancer, just after his first birthday and was offered whole genome sequencing.
I [Caroline] have worked in paediatric A&E for most of my career. Neonatal care has always been an interest of mine, having had a link role in A&E, so to be more involved with this group of patients really appealed. I also think it’s great that this project is building on strong findings from previous genomic research studies at Addenbrookes, and for the benefit of patients.
When we first started in post, we observed and shadowed the Clinical Genetics Team at CUH and completed the Health Education England Genomics 101 series of modules. We went on to complete the PG Certificate in Genomics and Counselling Skills module at University of West England; this was very good and we were able to apply the learning directly to our clinical practice.
What is the most challenging thing about your job?
Having a complete blank canvas to start with and creating the service overall, as the process was very ad hoc before.
What is the most rewarding thing about your job?
We have definitely improved the care pathway, which means that that some babies and children have had their results sooner than they would have done which has informed decisions about their care.
We have had very positive feedback from consultants about how helpful and beneficial it is that families have a point of contact. We liaise with laboratories to find out how far sample testing has progressed, and when the results are likely to be available and feedback to consultants and the families.
Find out more
Genomics Education Programme / Health Education England online courses:
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