Genetic testing is a powerful tool within the NHS. It can give answers to a family living with a rare and undiagnosed condition, reveal an inherited condition before any symptoms, find out if a pregnancy will have a genetic condition, or catch a cancer early. Each year genetic testing improves and saves the lives of thousands of patients across the UK.
In this 75th year of the NHS, we wanted to mark the milestone a little closer to home and celebrate over 45 years if Clinical Genetics at Nottingham University Hospitals.
From humble beginnings of 1977, the service now has more than 30 clinical staff and supports over 5000 patients each year through genetic testing.
Increasing capacity for genetic testing at NUH
In our Neonatal Intensive care Unit and Paediatric Intensive care Unit (NICU and PICU) we have introduced specialist genetic counsellors to arrange testing for acutely unwell infants, which provides results within 2-3 weeks.
Marie-Anne O’Reilly, Lead Genetic Counsellor, Clinical Genetics, explains: “In the UK, 10- 15% of all births result in admission to a neonatal intensive care unit. Initial clinical presentation may not accurately predict future clinical and developmental outcomes; however rapid genomic testing has the potential to transform the diagnosis and care of babies with rare or inherited genetic conditions.
“This new ‘link’ role between NICU/PICU and Clinical Genetics will enable more families to benefit from genomic testing.”
Within Ophthalmology we are training specialist orthoptists and nurses in genomic testing indications, counselling and consenting.
Dr Ajoy Sarkar, Head of Clinical Genetics, said: “Through upskilling healthcare professionals outside of our specialist Clinical Genetics service, we can increase the ability and capacity of many more NUH services to identify underlying genetic causes of conditions in their patients.
“By doing so, we aim to get more people referred for testing and into management or treatment of their condition earlier, which we know improves outcomes for patients.”
You can find out more about the department at www.nuh.nhs.uk/clinical-genetics
Both projects are run by NHS East Genomics. You can find out more at www.eastgenomics.nhs.uk