Genomics in Health Visiting

Introduction

Note: This webpage was developed in collaboration with the Institute of Health Visiting.

Genomics may be a new term for many health visitors, but it is becoming increasingly relevant to your practice and can be a powerful addition to your toolkit for supporting families.

On this page, you can find educational resources, useful information, and links for further learning to help you build your knowledge and get started on – or continue – your genomics journey.

Look at the images to hear from health visitors as they explain the impact their genomics learning has made. When you’re ready, keep reading below as we tackle some common questions.

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What do I need to know?

Genomics can be complex, but some of the most important things you need to know are simple to learn. Click on the different questions to find the answers to some common questions.

What is genomics?

Although you may be familiar with ‘genetics’, especially in relation to certain tests, the concept of genomics is less well understood.

Some types of tests are indeed genetic, because they test for a condition by looking for a variation in a specific gene.

Genomics, however, describes how we sequence, analyse, interpret and act on information from the whole genome, or any part of it. The National Genomic Test Directory refers to all tests as ‘genomic’ and we will do the same throughout this resource.

Take a look at our handy infographic below to learn more about the differences between the two terms.

Why me?

Health visitors are in a unique position to make a big impact on families’ lives because of the things they see and hear that other healthcare professionals might not.

Look at the diagram for some of the qualities that you embody to help families through a genomics journey.

By using your qualities and skills as a health visitor and learning about genomics, you can make all the difference: from being equipped to make a timely referral to genomic services, to being a beacon of support for families on their diagnostic odyssey.

Why now?

Planning for the future

Now that genomics is formally supported by the NHS Long Term Plan, it is set to develop rapidly in the coming years – with more genomic tests becoming available to more people, and more public awareness around rare disease.

If you want somewhere to start, we recommend this introduction to genomics for health visitors, produced in collaboration with the iHV.

Newborn genome sequencing

Health visitors should be aware of the Newborn Genomes Programme – a project that will potentially lead to the routine whole genome sequencing of babies in the NHS. This will have a huge impact on the number of children diagnosed with genetic conditions that may affect their health while in your care.

A pilot is scheduled to take place in mid-2023 that will sequence up to 200,000 babies’ genomes, so there’s no better time to learn more about how genomic testing can affect your practice.

You can learn more about the Newborn Genomes Programme on the Genomics England website.

I want to learn more; are there any resources available?

Yes, there are many resources available to help you better understand and apply genomics in your practice, including this webpage: Here are some to get you started:

Guided resources: for step-by-step learning

Don’t know where to start? Try our genomics learning journey and start off from where you feel comfortable.
For a holistic look at genomics in health visiting, we recommend Understanding Genomics: GPP eXtra, produced in collaboration with the iHV. These five documents are designed to build your knowledge up from the basics and provide guidance for how you can apply what you have learned in practice.
Three genomics webinars, hosted by the iHV and featuring a variety of guest speakers, are also available to answer some key genomics questions posed by health visitors.
If you want to learn more about a specific genomics topic, or want to expand your knowledge of genomics in general, our Genomics 101 series is available now through the elearning for healthcare platform. We recommend starting with this course: Genomics in Healthcare.

Targeted resources: for something specific

Family history

We have many resources available to help you with taking a family history. Try our Genomics 101 course or our taking a family history webpage, which contains a reference genetic pedigree that you can save or download as well as FAQs and signposting to other resources.

Rare disease

Rare diseases are individually rare but, when taken together, they are far more common, affecting around 1-in-17 people in the UK. There are many sources of information available, but our Rare Disease Education Hub is a great place to start, with helpful resources and links for clinicians and patients.

Genomic testing

Genomic testing is one of the most rapidly advancing areas of genomics, and can be difficult to understand. Remember, you don’t need to know everything, but it’s helpful to understand some tests that will affect your families, like the newborn blood spot screening test, which tests for nine serious and rare conditions shortly after a baby is born. More information on genomic testing and the NHS Genomic Medicine Service is available here, if you want to learn more.

Other resources

Looking for something cross-professional? Our dedicated pages for midwifery and nursing are full of information and signposting that could help you.

Not sure where to start?

Chart your genomics learning journey with our helpful guide

The impact of genomics for families

Genomics is a necessary and developing part of healthcare, and it can provide life-changing results for families. It is, however, important to remember that it doesn’t always provide the answers that we were expecting, and sometimes leaves us without an answer at all.

Watch these films to hear two families’ experiences of genomic testing and the difference it has made for them.

Beskida and Arvin: The power of a genetic diagnosis

Claudia and Trent: The diagnostic odyssey

The diagnostic odyssey

Every family that undergoes genomic testing will have a different journey: some are relatively short with a clear path to diagnosis, others are much longer and more complex, taking years or remaining unresolved. Genomics is playing an increasingly important role in shortening these journeys and ensuring that more families receive a diagnosis more quickly.

Click through the carousel to learn more about how a diagnostic odyssey can impact a family. Then, keep reading below to find some practical examples in our case study, and find out how you can take action to make a difference.

Touchpoints in health visiting: Meet Lan

In this case study, we get to know Lan – a four-year-old child – and his family, to learn about the potential health visitors have for being involved early in a child’s life, and how genomics can make all the difference.

About the family

Lan is the first-born child to his parents. He is very much a wanted and planned baby. Lan’s parents reside with Lan’s father’s parents. They have a large extended family locally and abroad who support each other.

The antenatal home visit

Lan’s mum was supported antenatally by her midwife and the pregnancy progressed well with no complications. Both parents received an antenatal home visit by a health visitor at 34 weeks’ gestation.

This provided an opportunity for Lan’s parents and the health visitor to meet and talk about them becoming parents for the first time. It also offered Lan’s parents the chance to hear about the health visitor role in supporting them and provided time ahead of Lan’s arrival for an assessment by the health visitor of any potential need.

More information about the antenatal screening and diagnostic tests is available on our midwifery webpage.

The new birth visit at home

Lan arrived at term. He and his mother established breastfeeding well and midwifery colleagues discharged them at 14 days. The health visitor conducted a new birth visit at home on day 16. Baby Lan was thriving, he was feeding well, gaining weight appropriately, was responsive and had no detected inherited conditions from the newborn blood spot screening test, taken at day 5. The health visitor left satisfied that baby Lan and his parents were well.

Our midwifery webpage has more information about neonatal screening and examinations, including the newborn and infant physical examination (NIPE), newborn hearing (NHSP) and newborn blood spot screening (NBS) programmes.

Early neonatal visits and checks

The next contact Lan’s family had with a health visitor was the 6-week neonatal visit. Lan remained exclusively breastfed, was gaining weight appropriately, meeting different developmental milestones expected for his age – such as reduced head lag, longer periods awake and being more responsive to carers – and the health visitor was satisfied with his presentation and development. Lan’s parents also reported to be well, coping with and enjoying their newborn son. This family was assessed by the health visitor to require the universal offer of health visiting.

A 6-8-week neonatal check with the GP took place for Lan and his mother just prior to his primary immunisations at eight weeks with no concerns.

Monthly child health clinic visits

Lan was brought by his mother and sometimes extended family members for monthly weight reviews at their local child health clinic for the first six months. He continued to make good progress in all areas of development.

When he was nine months old, both parents came to the child health clinic and asked to see the health visitor they had seen for all early home visits. They voiced their concerns that recently Lan did not seem as bright as he once was, that he seemed unable to do some of the things he had once done and they wondered if he was having some vacant episodes. The health visitor acknowledged their concerns and recognised that a busy child health clinic was not a suitable venue to discuss this fully. The health visitor offered to visit the family home and carry out a development review and to talk through any concerns the parents had.

Home visit with developmental review

At the home visit, Lan’s parents shared their concerns, describing what Lan had been able to do until recently and demonstrated what he was now unable to do. They demonstrated their distress and worry to the health visitor that there might be something wrong with their baby. The HV was honest and said she shared their concerns about Lan, based on their report and her observations.

At this home visit, the health visitor carried out a developmental review and documented the findings from this, which did suggest that Lan was not meeting all developmental milestones for a baby of nine months, and that this was a change from previous presentations.

The HV explained to Lan’s parents that there was a need for them to refer Lan to local paediatric specialists for further care and review. The parents agreed and consented to this process and to involving the GP in sharing information about this referral.

The health visitor took the opportunity to ask the parents for a bit more information about their families and if they were aware of any other family members who had a similar experience to Lan. The health visitor explained that this information would be helpful for the paediatrician and any other specialists looking after them. They were a little surprised by this request initially but agreed to discuss this further with Lan’s grandparents who they reside with, as well as Lan’s mother’s parents who live abroad.

The health visitor explained that the paediatrician might refer Lan to other professional colleagues too, and outlined how their confidential information would be protected. Finally, she reassured them that, as their health visitor, she would continue to support the family.

Referral to community paediatrics

Lan is now 4 years old. He was seen by a community paediatrician following the referral by the health visitor, and remains under their care. The community paediatrician conferred with other paediatric specialists and, following initial blood tests, Lan was referred to the local clinical genetics department. It was confirmed through genome sequencing, which took some time to process, that there was a genomic cause for Lan’s regression and delay. He has a rare form of epilepsy, which is caused by a variant in a gene.

Ongoing support and care

Throughout this time, Lan and his family have kept the same health visitor who has:

supported the family, offering them regular contact;
liaised with specialists to understand Lan’s condition better, acting as the lead professional;
advocated for Lan and his long-term needs;
signposted the family to helpful organisations and support;
been proactive in understanding Lan’s educational requirements; and
helped Lan’s parents navigate the education system.

Taking a family history

A family history is one of the most powerful tools at your disposal as a health visitor. It can offer invaluable insights, building a rich foundation for a potential future referral or revealing a key clinical clue.

One way to effectively capture a family history is to draw a genetic family tree, or pedigree, which can be read by other health professionals involved in the family’s care – see our example drawing (don’t forget to click the arrow to see the key).

To learn how to take and draw a genetic pedigree, see our Taking and Drawing a Family History webpage, which has a range of resources to try out for yourself. More information specifically tailored to health visitors is available in this iHV GGP eXtra resource.

Link bank

Need a quick reference or want to learn more? Our handy link bank collates all the links and resources included on this webpage and beyond to help you fill in any gaps in your knowledge.

Each resource is tagged with its type, name, the publisher and an estimated completion time so you can plan your study.

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