Today we are celebrating our amazing midwives!

Midwives support thousands of women and families every day. They ensure women have the right information which enables them to make individualised decisions throughout the pregnancy, labour and postnatal period.

Midwives are already involved in genomics, although they may not realise it! Because midwives spend time with couples to understand their medical, family and pregnancy history, they are vital in recognising those who may benefit from additional genomic referrals or testing early in the pregnancy.

Screening tests are offered as part of the National Screening programme. These include screening for specific inherited and genetic conditions in the antenatal period and for the newborn after delivery. Midwives should be aware of the availability of, and ensure access to screening at the appropriate time, as well as offer information and signposting to families.

Genomics and genetic technology and testing capability is moving at pace. It is an exciting but complex area of medicine. Midwives have long been working in this field and continue to be at the forefront of bringing the benefits and limitations of genomics to patients.

Today on International Day of the Midwife, we want to celebrate their involvement and say thank you for all you do!

Fetal Medicine Midwife, Anne Shurlock wants to encourage fellow midwives to learn more about genomics.

“When I was training as a midwife, I never really understood that things like newborn screening is actually genomics. So it’s already part of our everyday work without realising it. The more we know and understand about the potential of genomics, the more we can offer to our families.”

Melissa Claridge Governance Midwife and Newborn and Infant Physical Examiner (NIPE) agrees;

“Genomics is increasingly relevant and important to midwifery. When doing NIPE checks, it’s very common for parents to declare a history of an inherited condition particularly a cardiac one. Having an understanding of inheritance patterns, and the implications that may have for newborn babies, has allowed me to give accurate and detailed information to parents and also to make the appropriate referrals.”

She also appreciates that every midwife should have an awareness of the fundamental of genomics.

“When working on the Delivery Suite, we often encounter patients with a genetic diagnosis either themselves or in their children.  Understanding genomics means you can give appropriate care and advice to these patients in labour.”

Putting Genomics into practice

Here in the South East, we have several midwives who are leading the way in genomics. One example is Beth who is a specialist Diabetic midwife.  Alongside her colleagues, Beth will be working to bring awareness of monogenic diabetes, which is a rare form of inherited diabetes that could be identified in pregnancy. By enabling women who meet a certain criteria to be screened for monogenic diabetes; they can be supported during pregnancy and after birth. This in turn will lead to reduction of unnecessary treatment for the mother and improved outcomes for the baby.

“Genetic screening means I can now get quick and efficient diagnoses for the families I look after.” Beth tells us.

“I’m excited about its potential to help families who would otherwise struggle to get an accurate diagnosis.”

Genomics fuelling midwifery research

As well as being part of everyday practice, genomics is also a key focus in research right now. The National Institute for Health Research is leading a study into Severe Obstetric Cholestasis which is a rare liver condition that can affect pregnant women as well as severe Hyperemesis Gravidarum which causes extreme nausea and sickness for pregnant women. In both cases, the research is exploring the potential for a genetic cause which if proven, would open up the possibility of quick and accurate diagnosis for women, enabling them to get the treatment that they need sooner.

Research midwife, Alice Perry told us, “Right now, there is still much to learn about both conditions, but genomic research will hopefully answer some of our questions and drastically improve how we treat them.”

We can help you to make it a reality

The midwifery lead for genomics in the South East, Jo Hargrave summed it up perfectly when she told us. “If you are a midwife, genomics will undoubtedly be relevant to you and the women and families you care for. Please do consider where genomics could fit in your practice.”

The team here at the South East Genomic Medicine Service can support you to set up pathways and educate staff teams. We’d love to hear from you and understand what you need to help put genomics into your practice.

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.