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Let’s Talk Genomics #GenomicsConversation week

#GenomicsConversation week held during 24-28 June, is led by the Genomics Education Programme. This event takes place annually and features several events and activities to spark a conversation about genomics and increase awareness of the subject across the workforce, including Midwives.

Genomic Conversation Week 2024

This year’s conversation aims to reflect the impact of genomics on patients and professionals and what is to come, covering five themes across the week. As a group of Lead Midwives across England, working within Genetics and Genomics, we wanted to start ahead of time, and reflect on the themes, to spark your interest and join the conversation.

Day 1: ‘Are we there yet?’ Genomics in the NHS – Where we are now

Jo Hargrave, Lead Midwife, East GMSA
Jo Hargrave, Lead Midwife, East Genomic Medicine Service Alliance (GMSA)

The NHS England - Accelerating genomic medicine in the NHS Strategy (opens in a new tab) is playing a crucial role in integrating genomic applications into routine clinical care and supporting ongoing research to identify the genetic causes of ill-health. In achieving the ambitions of the strategy, Genomic Medicine Service Alliances (GMS Alliances) (opens in a new tab) in collaboration with healthcare professionals and educators are upskilling the maternity and neonatal staff to support the implementation of genomics within routine clinical practice. A plethora of educational resources are available for this purpose developed by NHS E - National Genomics Education (opens in a new tab) (see Table 1).

In my recent article (opens in a new tab), I explored how genomics is becoming an integral part of the midwife's role. I emphasised the importance of leadership to prepare the workforce, development of clinical competency, and providing equitable access to genomic testing. The need for flexible learning resources are paramount as significant advances in genomic testing will clearly rely on midwives to understand the genomic options at each stage of a clinical pathway in terms of complex pregnancies, from testing and management of, or treatment advised by perinatal genomic results.

Over the last year, the NHS England Midwives in Genetics and Genomics Network (MiGGs.net) has seen significant growth, with members from novices to specialists sharing and transforming ideas into impactful genomic resources. Projects include ‘Guidance for Healthcare Professionals for R445 Genomic Testing, (opens in a new tab)’ a ‘Genomics Learning Passport,’ and perinatal awareness raising, like a cystic fibrosis MDT presented at the Festival of Genomics. (opens in a new tab)

While we celebrate our progress, there is still much to be done. Midwives, from those in leadership roles to those providing direct care, have a crucial part to play. Let's work together to fully integrate genomics into maternity care. Your involvement is key in shaping the future for parents and babies!

See a short video from Jo Hargrave recapping some recent developments in genomic medicine in midwifery and nursing

Link: https://www.youtube.com/watch?v=_1V98WsHpH4

Day 2: Pioneers and explorers - Professionals at the helm of genomics

Denise Barnes, Lead Midwife, North East and Yorkshire (NEY) Genomic Medicine Service Alliance (GMSA)
Denise Barnes, Lead Midwife, North East and Yorkshire (NEY) Genomic Medicine Service Alliance (GMSA)

NICE Guidance (opens in a new tab) and the Ockenden (opens in a new tab) report emphasise regular risk assessment during pregnancy. The booking consultation is crucial for gathering comprehensive information and planning future appointments. Midwives are well-placed to identify genomic ‘risk factors’ or ‘red flags’ during these consultations, ensuring early informed support from perinatal genomic services. Key areas of interest include family, medical, and past pregnancy history, particularly perinatal issues like multiple fetal losses, structural anomalies, consanguinity, and multigenerational health problems.

Midwives’ understanding of local pathways help guide parents effectively by discussing and documenting informed decisions clearly, including postnatal review options when antenatal referrals are declined. If an ultrasound reveals unexpected structural changes, referral to a fetal medicine specialist may be needed, but continuity of care with a midwife remains valuable. Postnatally, examination of newborns (opens in a new tab) and hearing assessment (opens in a new tab) may uncover undisclosed health conditions, prompting beneficial interventions like neonatology referral.

In the sad event of a pregnancy loss, the option of genomics to try to understand why it happened often provides either reassurance that it is likely an isolated incident; that it’s likely to reoccur and allows for future reproductive considerations; or ends with more uncertainty. If midwives are not aware of the testing that can be offered, they cannot provide a map for that different journey.

Genomics can provide insights for future risk prediction and planning for pregnancy. With midwives leading, care can be equitable, personalised, and timely, focusing on what’s important to parents.

See a short video from Georgina Corfield, Head of Technical Programme at East Genomic Laboratory Hub (GLH) on her role in leading a team of highly trained, highly skilled laboratory staff

Link: https://www.youtube.com/watch?v=VJ7OMbpNH_A

Section 3: Ticket to ride: The patient journey

Tina Prendeville, Lead Midwife, North Thames GMSA
Tina Prendeville, Lead Midwife, North Thames GMSA
Beth Shobbrook, Lead Midwife, South East GMSA
Beth Shobbrook, Lead Midwife, South East GMSA

The suggestion of genetic referral or testing may arise following a dating or fetal anomaly scan and if accepted, referral to clinical genetics, will involve consultation with a perinatal genomic specialist (genetic counsellor, geneticist, or fetal medicine consultant) for counselling and/or specialist scanning, either in-house or at a tertiary-level service.

Given the time-sensitive nature of pregnancy, midwives should ensure that all necessary and correct health information are urgently transferred to the counsellor including both biological parents contact details; medical/family histories; information about affected family members; their relationship to the pregnant relative and any prior genetic laboratory results.

If genetic or genomic testing is required, and parents agree to be tested (during or after pregnancy), the specialist team will discuss associated risks, potential outcomes, and subsequent implications and options. It will be highlighted that testing results are occasionally inconclusive or fail to provide an explanation for a suspected fetal anomaly for instance or receive unexpected or difficult news parents should be prepared in advance for these circumstances to help alleviate their anxiety. Coupled with prolonged uncertainty parental decision-making can become challenging.

Some parents may already have had testing or developed a preconception plan (opens in a new tab). In either case, genomic conversations can help parents make informed decisions for their current pregnancy. It is advised to inform family members, as results may impact on relatives and necessitate a referral to clinical genetics. Parents should be signposted to organisations such as Antenatal (opens in a new tab) Results (opens in a new tab) & Choices (opens in a new tab) , Gene People (opens in a new tab) and Unique (opens in a new tab)

Invasive procedures like amniocentesis or chorionic villus sampling (opens in a new tab) provide fetal samples for genomic testing such as chromosomal microarray, QF-PCR and exome sequencing (opens in a new tab) to exclude suspected monogenic conditions associated with atypical scan findings. Non-invasive prenatal diagnosis (NIPD) (opens in a new tab) can also be offered for a limited number of specific genetic conditions.

The care and support that parents receive when on a genomic journey is crucial. The presence of midwives and the broader perinatal team in these scenarios is imperative throughout the pregnancy and beyond.

See a short video with Loretta MacInnes, diagnosed with a rare condition - Fabry Disease - following genetic testing

Link: https://www.youtube.com/watch?v=sqmQMUp3hpE

Section 4: Uncharted journeys - What lies ahead?

Karen Creed, Lead Midwife, Central and South GMSA
Karen Creed, Lead Midwife, Central and South GMSA
Waheeda Abbas, Lead Midwife, North West GMSA
Waheeda Abbas, Lead Midwife, North West GMSA

Advances in genomics, including new tests and therapies in preconception, prenatal, and postnatal use, are improving outcomes and benefiting more parents and families. Genomic developments currently, and in the future, will see an increase in midwives’ knowledge in this area.

Genomics England and NHS England have partnered to offer parents the chance to join the 'Generation Study,' (opens in a new tab) aiming to sequence 100,000 newborn genomes to improve the diagnosis and treatment of genetic conditions. This study is complementary to the current NHS newborn bloodspot screening that is a priority and standard practice. Recruitment to the research has already begun, and numbers will increase as more Trusts come on board.

NHSE has established a ‘Prenatal Genomic Network of Excellence’ (NoD) (opens in a new tab) to advance genomics and expand testing for rare genetic conditions in pregnancy. Currently, Rapid prenatal exome sequencing (R21) (opens in a new tab) is available for likely monogenic genetic conditions where there is an ultrasound multiple structural fetal anomaly and in time, detection will improve as the eligibility criteria and reporting of new evidence evolves. The NoE aims to ensure equitable and earlier R21 testing and minimal risk to miscarriage by means of increasing use of non-invasive prenatal testing (NIPD).

We’re just beginning to understand epigenetics, (opens in a new tab) which involves DNA modifications that change gene expression without altering the DNA sequence. Factors such as environment, lifestyle, stress, poor nutrition, medicines, and toxins can predispose to ill-health and affect fetal and neonatal development. Epigenetic changes can also be inherited. For example, diabetes and cardiovascular conditions can trickle through multiple generations, affecting more than one family member. Similarly, proper nutrition during pregnancy can foster beneficial epigenetic changes, enhance pregnancy health, and lower the risk of adverse outcomes for both the expectant parent and baby.

As genomic capabilities are constantly changing, midwives must keep abreast of the horizon, to better support the parents they care for.

Section 5: To boldly go - Chart your own genomics journey

Karen Creed, Lead Midwife, Central and South GMSA
Karen Creed, Lead Midwife, Central and South GMSA

Genomics, once limited to genetic services, is now integral to maternity care. Midwives must understand genetics, genomics, and epigenetics, as outlined in the NMC Standards of Proficiency for Midwives (opens in a new tab)

While some midwives are well-versed in genomics, it can be daunting for others, particularly those without a fetal medicine or screening coordinator role. At the Midlands Maternity and Midwifery Festival in Birmingham on May 14, we surveyed midwives' knowledge of genomics. Although 97% had heard of genetics and 87% of genomics, only 24% understood the difference between the terms. Over half were unfamiliar with, or unsure about epigenetics. Despite only 33 responses, this small survey indicates significant uncertainty among some midwives regarding genetics, genomics, and epigenetics in practice.

So how can midwives enhance their knowledge and skills? We're developing a ‘Genomics Learning Passport for Midwives’ (GLPM) to guide their learning journey. The GLPM can also be used for revalidation. In addition, there is a compendium of flexible learning resources available and free on the NHS England Genomics Education Programme website. Table 1 lists some of the resources that will help you to gain practical knowledge of genetics, genomics, and epigenetics in midwifery. Furthermore, the 16th edition of Mayes’ Midwifery, (opens in a new tab) includes a chapter dedicated to genetics and genomics in clinical midwifery practice.

Table 1: NHS England National Genomics Education, Genomic resources for midwives (not an exhaustive list)

We see a future, where midwives will be competent to service genomics within their everyday clinical practice: being proactive and confident to explain, inform, advise, and support expectant and new parents their choices and decisions on testing.

We encourage you to explore the learning resources, to help flourish your awareness and, personal development and, to promote genomics within your professional circle.

Sign up here (opens in a new tab) to receive updates on upcoming courses, news, events, and program updates.

With thanks to Donna Kirwan, Lead Midwife Genomics Unit, NHSE and Dagmar Tapon, Genetic Counsellor, Imperial College Healthcare NHS Trust for review and edits.

Donna Kirwan
Donna Kirwan, Lead Midwife, Genomics Unit, NHS England