26th June 2023
Genomics may be a topic that is quite unfamiliar to many and perhaps for others, it is beginning to become familiar.
This week, 26-30 June is #GenomicsConversation week, hosted by the Genomics Education Programme which supports the learning and development of genomics for all healthcare professionals. The week aims to “uncover the many ways genomics is shaping patient care” and its theme is “hidden genomics”. It will be very relevant to all members of health visiting teams, and there will be daily free activities and resources to join in with.
Recently, Sally Shillaker, Practice Development Lead – Genomics at the iHV, had a fascinating conversation with Gill Moss and Waheeda Abbas from the Northwest Genomic Medicine Service Alliance (GMSA), to find out more about the work that they are leading and why it is important for health visitors.
Gill and Waheeda explain more about how genomic medicine services are arranged, they share their stories about how they became involved in genomics, the ways that health visitors are already using genomics in their work, and they provide some examples of life changing work they have been involved in. Gill also encourages all health visitors to complete our current genomics survey to ensure that the needs of health visitors are met in this changing landscape of healthcare.
What is GMSA – and what do you do?
GMSA stands for Genomic Medicine Service Alliance – there are seven GMSAs covering England. The arrangements for Scotland, Wales and Northern Ireland are a little different. Each GMSA exists to embed genomics into mainstream NHS care. They also have a workforce training and education remit to promote the benefits of genomic testing in either cancer or rare disease pathways to enable patients to receive the best treatment available, depending upon their underlying genetic predisposition. Our role also ensures the return of results for participants involved in the 100,000-genome project. For more information, please visit https://www.genomicsengland.co.uk/initiatives/100000-genomes-project.
For more information about arrangements in Scotland, Wales and Northern Ireland please click on the following links.
Can you tell us how you got into Genomics?
Prior to working in the GMSAs I was lead nurse for Genomic Medicine at St Marys Hospital in Manchester where I managed the Paediatric metabolic nursing team, but latterly I had a part time role within the Genomics Unit for NHSE. I had been working in the genomics field for 22 years, as all the disorders we saw and looked after had a genetic basis, so it was a natural progression to go one step further and be part of showcasing how genomics is being used in modern healthcare.
Before joining the GMSA, I was a midwifery lead for hemoglobinopathies, which involved screening couples, counselling pregnant people, and offering prenatal diagnosis to confirm whether their baby had a genetic condition. I was interested in and passionate about antenatal and newborn screening programmes and wanted to make a difference in the community, so applied for a genomics post.
How can health visitors get involved in genomics?
Health visitors are already engaged in genomics but may need to realise this. HVs are in a very unique position and can have a significant impact on families. HVs will notice things that another health professional may not, such as a child’s developmental delays and not reaching developmental milestones that may be linked to a genomics cause. HVs having genomics knowledge is pertinent so that they can effectively support families in early interventions and advocate for families through the child’s journey.
Health visitors are already involved with genomics, for example the return of the newborn screening result, which most children have in their very early days. They are also in a unique position of knowing families and being skilled at having conversations with families when there may be some concerns for their baby or child. There are lots of other opportunities for health visitors to develop their role in genomics too.
Can you tell us about some of the work you are involved with?
PALOH stands for Pharmacogenomics to avoid loss of hearing. This was a clinical trial at Manchester in collaboration with the neonatal teams in Manchester and Liverpool Hospitals. This study was predominantly led by the nurses. If a baby is born prematurely, they will often enter neonatal intensive care (NICU). These babies, due to the immaturity of their immune system will require an antibiotic which is usually Gentamicin. However, in rare circumstances one dose of Gentamicin can render a child deaf forever, if they carry a genetic variant.
The PALOH study involved the use of a “point of care testing machine” where, on admission to NICU, nurses took a buccal swab of the baby’s saliva and inserted it into a tabletop testing machine. Within 26 minutes the machine indicated whether the baby carried the genetic variant. This result directs the clinicians as to which antibiotic to prescribe and has now been adopted into NHS practice. During the first week of the clinical trial, a baby was picked up as having the genetic variant and so the second line of antibiotics was prescribed. Subsequently, that baby was protected from losing their hearing. For more information about this study, please click here.
I speak at conferences and often present to student and qualified midwives and other professional groups, to promote the importance of genomics in midwifery. I am involved with several projects such as the identification of Monogenic Diabetes (MODY) in pregnancy and improving referral rates to specialist clinics. Another project I am working on is conducting a thematic analysis of consanguinity and its links to stillbirth rates, and exploring how we can improve the referral rates to genomic medicine.
What are your thoughts on our current genomics scoping survey we are running and why is it important that all members of health visiting teams complete it?
We need to find out what health visitors’ current genomic knowledge is, so that we can put in place a training plan to ensure that health visitors are equipped with genomic knowledge that is relevant for their role. This will empower health visitors to have confidence when communicating with their families about genomics.
I have recently undertaken a baseline scoping exercise across the country looking at the lung pathway with clinical nurse specialists to determine what gaps they have in their knowledge of genomics and in turn this enabled us to put a plan in place of training and education to provide them with the confidence to hold genomic conversations with their patients.
Have your say – help shape genomics training for health visiting by completing our survey:
This survey is open to all members of health visiting teams – please spare a bit of your time to complete it. Your feedback will help us to better understand what health visitors and members of their teams understand about genomics, as well as any gaps in your knowledge. It does not take long to complete, there are no right, or wrong answers and it involves answering questions based on some scenarios we see in practice.
We need more responses, please help us to boost our numbers. Please complete it by 17/07/2023 by either using the link or QR code below and also share with your colleagues for them to complete as well.