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Let’s Talk Genomics #GenomicsConversation week

The understanding and development of genetics and genomics is accelerating. The 24-28th June is Genomics conversation week and the regional Lead Midwives in Genomics discuss how midwives are already starting the conversation, but what does the future hold? Are you having an informed conversation with the families you look after? Read on to get involved.

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#GenomicsConversation week held during 24-28 June, is led by theGenomics 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.

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.

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

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

Jo Hargrave

The NHS England – Accelerating genomic medicine in the NHS Strategy 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) 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(see Table 1).

In my recent article, 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,’ a ‘Genomics Learning Passport,’ and perinatal awareness raising, like a cystic fibrosis MDT presented at the Festival of Genomics.

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!

Section 2: Pioneers and explorers: Professionals at the helm of genomics

Denise Barnes-Lead Midwife East Genomic Medicine Service Alliance (GMSA)

Denise Barnes

NICE Guidance and the Ockendenreport 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 and hearing assessmentmay 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.

Section 3: Ticket to ride: The patient journey

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

Beth Shobbrook and Tina Prendeville

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. 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 Results & Choices , Gene People and Unique

Invasive procedures like amniocentesis or chorionic villus sampling provide fetal samples for genomic testing such as chromosomal microarray, QF-PCR and exome sequencing to exclude suspected monogenic conditions associated with atypical scan findings. Non-invasive prenatal diagnosis (NIPD)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.

Section 4: Uncharted journeys: What lies ahead?

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

Karen Creed and Waheeda Abbas

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,’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) to advance genomics and expand testing for rare genetic conditions in pregnancy. Currently, Rapid prenatal exome sequencing (R21)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,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 & 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

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,includes a chapter dedicated to genetics and genomics in clinical midwifery practice.

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

NHS England National Genomics Education (links below)

Links from Table 1.

Genomics 101-Genomics in Healthcare

Genomics 101 modules

Genomics in Midwifery

GeNotes

Fetal and Women’s Health pathways

E-Learning for Health

E-Learning for Health

Modules on close relative marriage

NHS England » National genomic test directory

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.

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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

June 2024

The regional lead midwives in Genomic Medicine Service Alliances

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