We hear from Jo and Chris, both based at Norfolk and Norwich University Hospitals NHS Foundation Trust, who spoke at the Festival of Genomics and Biodata held in London, 24-45 January 2024.
You may have seen stories on genomics or genetic testing in the news recently, from a landmark national study supporting the use of whole genome sequencing in standard cancer care, to the news that a sickle cell patient in London received a world-first “blood matching” genetic test (opens in a new tab).
Whilst the terms ‘genomics’ and ‘genetic testing’ can seem daunting, the benefits they bring to patients are clear. Put simply, a genetic test can help diagnose a genetic condition.
When someone has an accurate diagnosis, the appropriate treatment can be given, and they have a better chance of finding support. A genetic test can tell someone if they have an increased risk of developing a condition later in life (such as breast cancer) which might mean they can go for more regular check-ups, or take other measures to keep the risk to a minimum.
If family members are aware that a genetic condition runs in the family, it might prevent them from being misdiagnosed.
In January of this year over 5,000 people descended on London’s ExCel Centre for the Festival of Genomics and Biodata, the UK’s largest annual life sciences event.
Genomics in nursing and midwifery
Jo Hargrave is the Lead Midwife for NHS East Genomics and is based at NNUH. Here Jo reflects on her experience of attending the Festival, including co-leading a session with fellow ‘Midwives in Genetics and Genomics’:
“What I found interesting on the first day was listening to a talk on genetic anomalies and infertility, which highlighted that by identifying these anomalies we can assist with fertility programmes. In the afternoon a talk on Prenatal Exome Sequencing (opens in a new tab) highlighted how education and joined-up working within multidisciplinary teams improves the care of women and their families, which is something we have been looking at improving within the East of England.
"On day two I joined my Midwives in Genetics and Genomics (MiGGs) colleagues, as well as a Genetic counsellor, Clinical Scientist, Pharmacist and a patient representative to demonstrate how collaborative working within a multidisciplinary team can provide high quality care for a pregnant person and their family.
I was humbled to hear our patient, Lorna, speaking about both her and her daughter’s experience of Cystic Fibrosis and all the positive work that has been done to improve care, testing and treatments
Jo Hargrave, East Genomics Lead Midwife
The patient voice
Chris Hind is on the NNUH Council of Governors, and also chairs the East Genomics Patient and Public Voice (PPV) Panel, having been diagnosed with hemochromatosis following genetic testing.
Chris says: “I took part in a session on ‘The Power of the Patient in Genomics’ which demonstrated what we have been doing here in the East to ensure the patient voice is heard, and that we as patients play a role in improving access to genomic testing. It was great to hear from other PPV Chairs from around the country about their personal lived experiences of cancers and rare diseases.
It was gratifying that we are all committed to ensuring equal access to genetic testing for all in our local communities.
Chris Hind, East Genomics PPV Chair
“More broadly, it was a great chance to meet senior people within NHS England, politicians and policy makers, scientists, and tech experts. There is so much happening to embed genomics within the NHS, and we will continue to ensure that the patient voice is at the heart of this work”.
