Technology and understanding of the workings of the body are constantly evolving. Joanne Hargrave, Lead Midwife, East Genomic Medicine Service Alliance, points to the increasing developments around genomics and how midwives and students need to keep up-to-date in order to provide appropriate information and care.
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We are now in a time where cutting-edge genomic technologies play a pivotal role in advancing patient care. These advancements offer profound insights into both patient health and disease, particularly contributing to improvements in maternal and fetal wellbeing.
The aspiration is to establish a healthcare service capable of identifying the root cause of conditions, enabling the utilisation of the most effective medications and interventions tailored to a person’s unique genetic makeup. According to NHS England, genomic medicine holds the potential to revolutionise patient lives by facilitating quicker and more precise diagnoses for rare conditions and cancers, ending the ‘diagnostic odyssey.’
There is a national ambition to accelerate and embed genomic medicine into the NHS over the next 5 years. Find out more here: NHS England » Accelerating genomic medicine in the NHS
But what does this mean for midwives?
You will be interested to know that genomics has been incorporated into the Midwifery UK standards of proficiency since 2019. Despite this, a considerable number of midwives remain unfamiliar with the term ‘genomics.’ As we transition into an era of mainstreaming genomic services, midwives play a pivotal role in identifying conditions, initiating, or referring for genetic testing, and supporting the ongoing management of women and their families. This necessitates midwives to adopt a holistic perspective and actively ‘think genomics.’
What is genomics?
Many midwives will recognise the term genetics, and often the term ‘genetics’ and ‘genomics’ is used interchangeably. Genetics is the study of genes and their role in inheritance. Genomics is the study of an organisms complete set of genetic information (DNA), their genes and how they are expressed and interact to influence the development, growth, and function of the body. This field of medicine holds promise in providing a deeper understanding of how our genetic makeup can impact health and disease.
You can learn more about Genomics here: Genomics 101: Genomics in Healthcare – Genomics Education Programme (hee.nhs.uk)
What role do midwives play in Genomics?
Midwives contribute to genomics at various stages of the pregnancy pathway. During the booking assessment, midwives are positioned to identify ‘genomic red flags’ in family and medical histories, ensuring timely referrals and informed discussions about testing options. The course ‘Genetic inheritance for the pregnancy pathway: A practical guide for clinicians’ has been developed to support midwives with understanding the fundamentals of genetics and provide knowledge and skills to support them in practice.
In prenatal screening, non-invasive prenatal testing (NIPT) offers a genomic test to screen for chromosomal conditions, providing more accurate screening results and reducing unnecessary referrals for diagnostic procedures. There have also been further advances in the diagnostic space. Non-invasive prenatal diagnosis (NIPD) is an evolving technology that can detect the presence of a specific gene variant that cause monogenic disorders (Hanson et al, 2022). Rapid prenatal exome sequencing is a technology that has increased the diagnostic yield of genetic diagnosis for those with structural problems seen on ultrasound scan and where other prenatal tests did not provide an answer (Mellis et al, 2022). Doctors and Midwives need the skills to be able to translate this complex subject to a level that patients can understand, to make autonomous decisions regarding their pregnancy options.
Antenatal assessments or triage present an opportunity to identify undiagnosed inherited conditions, such as cardiomyopathies, by being vigilant about new or acute symptoms. Questioning the woman about family history of similar symptoms or conditions could lead to a quicker diagnosis and appropriate management plans and treatment (Martin et al, 2023).
Midwives on labour wards may encounter women with genetic conditions, and knowledge about specific conditions can significantly impact the care provided. Did you know that females that carry the haemophilia gene are at higher risk of bleeding with invasive procedures, termination, miscarriage, and post-partum haemorrhage? You can read more about the guidelines to optimise the care for these patients here: Management of Inherited Bleeding Disorders in Pregnancy (wiley.com)
Labour ward midwives may also be involved with the care of a family, where a genetic condition has been identified with the baby. Labour and birth are highly anxious times. If midwives have key knowledge of the condition, the pregnancy journey and what management plan is in place for the baby, it can lead to reassurance and an improved experience.
In the postnatal/neonatal setting, midwives play a crucial role in detecting health issues in babies. Listening to parental concerns and recognising signs of rare conditions is essential.
Use this link to read about one mother’s experience of the diagnosis of a rare condition for her baby. It highlights how important it is to truly listen to concerns. The Diagnostic Odyssey – A Mother’s Experience – M4RD
The specialist midwife, beyond fetal medicine, needs to consider genomics in their respective services, ensuring informed decision-making by patients regarding testing. Information provision needs to include considerations of the social and psychological impact, as well as the benefits and limitations of having a test.
As an example, Research Midwives are a key team who are likely to come across genomics within their portfolio. One research project that is coming to a number of maternity units within the UK is the ‘Generation study’. The aim of this study is to sequence the genomes of 100,000 newborn babies to identify rare conditions, for which the outcome may be improved if discovered early.
You can learn more about the study, including ethical questions, further aims as well as the full condition list via this link: Newborn Genomes Programme | Genomics England
Are midwives ready for the genomic era?
The ongoing upskilling of midwives is supported by educational opportunities, and resources like ‘GeNotes’ – which aim to support clinicians at the point of patient care. Collaborative efforts, including the Genomics Medicine Service Alliance (GMSA), and national networks aim to enhance equity of access to genomic testing and treatments for patients, with midwifery representatives actively promoting upskilling initiatives.
However, in answer to the question, are midwives ready for this genomic era? I would say not quite. Work needs to be done with higher education institutes to get genomics embedded into learning objectives for both pre-and post-registration courses. Leaders in trusts also need to take a responsibility to upskill the maternity workforce, even more so in the specialist areas such as Fetal Medicine and Bereavement services, to equip them with the relevant tools and skills. This will ensure that a woman and her family can access appropriate tests and care when required, but also have a positive experience in doing so.
The National Network for Midwives is known as the Midwives in Genetics and Genomics Network (MiGGs.Net) – for midwives to collaborate on scalable projects to enable genomics to become a routine aspect of clinical practice and is led by Donna Kirwan – National Lead for Genomics, Genomics Unit, NHSE.
If you would like further information, know who your regional GMSA contact is, or would like to join MiGGs.net, then please get in touch!
References:
Hanson B, Scotchman E, Chitty LS, Chandler NJ. 2022 Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders. Clin Sci (Lond). ;136(22):1615-1629. doi: 10.1042/CS20210380
Martin L, Mason S, Kirkby, C. et al 2023 Inherited cardiomyopathies: how nurses can facilitate holistic care for patients and their families British Journal of Cardiac Nursing 18:1, 1-14
Mellis R, Tapon D, Shannon N, et al. Implementing a rapid fetal exome sequencing service: what do parents and health professionals think? Prenat Diagn. 2022; 42(6): 783-795. https://doi.org/10.1002/pd.6140
Joanne Hargrave, Lead Midwife, East Genomic Medicine Service Alliance
March 2024
