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As we move into March, we have much to celebrate in the world of genomic medicine. This month, we not only acknowledge the remarkable progress made in genetic research but also highlight the invaluable contributions of our dedicated nurses and midwives. Your unwavering commitment to patient care and continuous learning propels us forward.
We are particularly excited to celebrate Rare Diseases Day on February 28th, a day dedicated to raising awareness and understanding of rare diseases. Your efforts in identifying and supporting patients with these conditions make a profound difference in their lives.
In this edition, you'll find the latest advancements in genomic research, inspiring stories from the field, and upcoming webinars and training sessions designed to enhance your skills. Let's continue to work together to transform healthcare and improve patient outcomes.
Thank you for your dedication and hard work. | |
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New research in genomic medicine | |
Gene editing therapy proven to stop painful and unpredictable sickle cell crises | |
Recent advancements in genomic medicine are transforming healthcare. One notable breakthrough is the gene editing therapy for sickle cell disease. This revolutionary treatment, known as exa-cel, has been approved for use on the NHS and offers hope for a cure. Clinical trials have shown a 96.6% success rate in preventing sickle cell crises. You can read more here. | |
For clinicians For patients | | | |
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Volunteers needed for research study Are you a Nurse working in Primary Care and interested in talking to us about the use of pharmacogenomics to improve prescribing? We are recruiting to a research project, exploring the views of practice-based nurses on the introduction of pharmacogenomics in primary care. Pharmacogenomics is the study of how genes affect a person’s response to drugs. - What is the aim? The aim of the interview is to explore the views of healthcare professionals and patients on the barriers and enablers for the implementation of pharmacogenomics in the primary care setting.
- What is involved? A 45–60-minute interview virtually or face-to face at a time that is convenient for you via Teams or at the University of Nottingham
- Who are we recruiting? We are looking for practice-based nurses currently working in primary care.
- Benefit of taking part: Contribute to shaping implementation of pharmacogenomics in primary care. As a token of our appreciation, we will send you a £25 high street gift voucher for your time and effort.
If you are interested, please contact Sadaf Quereshi who will provide you with further information: sadaf.qureshi1@nottingham.ac.uk
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National Test Directory update The National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. This is regularly updated. You can find out more on our website here. | |
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Gene detection to reduce risk of kidney disease after donation now available | |
An exciting addition to the NHS testing directory is the genetic test for the APOL1 gene. This test is particularly significant for potential kidney donors of Black African and Black Caribbean heritage. | | | |
It helps identify if donors carry high-risk variants of the gene, which can increase the risk of kidney disease after donation. This test is part of a broader effort to reduce healthcare inequalities and ensure the safety of donors. Those found to be at higher risk can receive regular monitoring and advice on lifestyle changes to reduce their risk of developing kidney disease. Read more here. - Please find an overview of APOL1-mediated kidney disease, including clinical features, genomics, diagnosis, inheritance, and management here.
- Further resources from the British Transplantation Society can be found here.
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Celebrating Rare Diseases Day | |
On February 28th, we celebrate Rare Disease Day. This day is dedicated to raising awareness about rare diseases and the impact they have on patients and their families. We encourage you to participate in events and share stories to help spread awareness.
How can Nurses and Midwives help?
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- Take a Comprehensive History: Gather detailed information about the patient's medical history, family history, and any previous diagnoses. This can help identify patterns or genetic links.
- Look for Clusters of Symptoms: Rare diseases often present with clusters of symptoms that may not seem related at first. Pay attention to unusual combinations of symptoms and consider how they might fit together.
- Collaborate with Specialists: Work closely with geneticists, paediatricians, and other specialists who have experience with rare diseases. They can provide valuable guidance and support in the diagnostic process.
- Stay Informed: Keep up to date with the latest research and developments in rare diseases.
- Advocate for Patients: Be an advocate for your patients by ensuring they receive timely referrals and appropriate follow-up care. This can make a significant difference in the diagnosis and management of rare diseases.
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By adopting these approaches, nurses and midwives can play a crucial role in identifying rare diseases early and improving patient outcomes.
And finally, on the day itself (Friday 28th February) you can post a picture of yourself and colleagues wearing something stripey on social media with the hashtag #ShowYourStripes and tagging in @MedicsForRare | | | |
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Jo and Anita were pleased to join other Lead Nurses and Midwives in presenting at the festival of Genomics a few weeks ago.
The lead midwives wanted to raise awareness around ‘genomic red flags’ Jo and Karen Creed (Central and South GMS) discussed Non-invasive prenatal diagnosis (NIPD), and the potential of improving opportunities for patients, if all midwives they had a baseline of genomic knowledge to support patient signposting. This was done using a case example of Retinoblastoma.
Elsewhere Tina Prendeville (North Thames) and Denise Barnes (North East and Yorkshire) discussed missed opportunities around stillbirth.
Denise reflects on the two day event: “We hoped to raise awareness that genomics in pregnancy is not just related to prenatal invasive testing. There are a significant number of families and midwives who are unaware of the level of genomic testing available when an unexplained stillbirth occurs. This testing can provide information, emotional closure and personalised care for a future pregnancy; however, we need to be aware that it might not provide any answers due to a sample failing to yield or no genetic reason found at the level of testing performed. Being able to identify genomic red flags throughout pregnancy can help us adjust to the changing needs of the families we care for and provide a personalised offer of testing and support.”
Key takeaways were for midwives to be ‘genomic’ curious to identify genomic red flags at booking, know how to access further information or advice and check what’s new in each pregnancy!
Resources to support this include: Anita joined Beth Evans and Nicola Young - midwives on our diabetes (GCK) project -to present about Monogenic diabetes with a focus on glucokinase in pregnancy identifying that: - The successful management of rare diseases like monogenic diabetes requires a collaborative approach ensuring that multidisciplinary teams cover all aspects of patient care including diagnosis, treatment and long-term management.
- Monogenic diabetes in pregnancy is distinct from gestational and other types of diabetes and requires tailored management.
- Glucokinase outside of pregnancy does not need treatment
If you would like to learn more about Monogenic Diabetes in pregnancy, we have an online resource which you can access here, with further information available on the Diabetes Genes website. For healthcare professionals interested in further training on monogenic diabetes the team from the Royal Devon University Trust and Exeter University are running another two day training course on 11-12 March, which you can find out about here. | |
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Spotlight on...Close Relative Marriage | |
You may have been aware of the media coverage around close relative marriages and the discussion around the increased risk of genetic conditions. The British Society for Genomic Medicine (BSGM) have released a briefing to support women’s freedom and rights to make informed decisions around reproductive choices. Read this in full here.
Quick Facts (from BSGM Briefing): Blood relatives are more likely to carry the same genetic variants than people who are unrelated to each other. As a result, there is a higher chance of parents who are first cousins having a baby with an autosomal recessive genetic condition. Parents who are unrelated have a 2-3% chance of having a baby with a genetic condition or congenital anomaly and parents who are first cousins have a 4-6% chance of having a baby with a genetic condition or congenital anomaly; most of the increased chance is due to recessively inherited genetic conditions.
This means most (94-96%) babies born to parents who are first cousins do not have a genetic condition or congenital anomaly.
There are currently many initiatives around that focus on awareness raising about inherited conditions and improving access to information and testing within communities where close relative marriages are common. We look forward to hosting a webinar on one of these projects involving midwives within the next few months.
If you would like to learn more about close relative marriages and improve practice within your own learning and services, you can access an e-learning package here. | |
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The East GMSA were able to support several midwives to upskill in prenatal genomic knowledge to support them within their specialist roles across the region. This included antenatal screening, fetal medicine, research and diabetes midwives who all recognised that genomics was becoming a significant part of their roles.
It was highlighted that this course was mostly beneficial for midwives who worked within fetal medicine services. Although not all parts of the course were relevant to all midwives outside of fetal medicine teams, those on the course reported that they were able to apply some of the learning to their own practice, more specifically around identifying suitability for referrals and key questions to ask when taking a family history.
Most of the midwives we spoke with felt more confident applying this knowledge to practice. It was also recognised that pre-reading or pre-learning of the fundamentals of genomics in maternity would have complemented the new learning within the module. Feedback included: | |
‘Since doing the course I’m much more conscious of asking questions that are a little broader, if people say no to family history or they are not sure. Asking things like if they have any family members who have had to see a doctor because of their sugar levels, or any family members who struggled with their health for unknown reasons? I find that often people will recall situations that they might not have initially thought of when being asked about Diabetes. It might not transpire that it is related to Diabetes, but it sometimes opens more of a conversation about family health in general’ .
Diabetes Midwife
‘I feel that I learnt some key skills during the course, for example when to be referring to genetics and when referral isn't required. Patterns of inheritance are also useful to understand. As a screening midwife, I work alongside fetal medicine midwives who generally specialise in and manage genetic referrals, however I can better support them with this enhanced knowledge.’ Screening Midwife | | |
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Emily Li, Operational Manager, East GMSA
We officially welcomed Emily into the GMSA team in November. Emily has worked in clinical research for 18 years in a range of NHS settings and in various specialities but have specialised in genomic health research for the last 10 years. Her role for the Generation Study aims to work with the Trusts delivering the study in the region, focussing on returning results to families and engagement with NHS staff and the public. | | | |
Key Study updates - In our East GMSA region, 3 NHS Trusts are recruiting participants at 5 hospitals and a further 2 Trusts are in set-up.
- Participant recruitment at Royal Derby Hospital and Queen's Hospital Burton and Leicester General Hospital and Leicester Royal Infirmary has only just begun with both Trusts opening the study in January.
- The Rosie Hospital (Cambridge) started recruiting in May 2024 and have recently recruited their 500th participant.
- For the recruiting Trusts, all the conditions detected by the study have been mapped to specialist clinicians/services so there can be prompt referral of babies suspected of having these conditions into the relevant NHS care pathway. To-date, 'condition suspected' results for 2 babies have been referred to clinicians in our region. The mapping process is underway for the future sites.
- You can find out more about the study here.
New post: The Generation Study: exploring genome sequencing in newborns – UK National Screening Committee
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Join Central and South Genomics on Friday 28th February for an insightful webinar in recognition of Rare Disease Day, bringing together patients, healthcare professionals, and researchers to explore the latest in patient advocacy, genomics and rare disease.
This event is for everyone, whether you're from a healthcare background, have been affected by a rare disease, or are just keen to learn more. You'll hear from a range of experts, from clinicians to charity representatives and patient advocates. To view the full agenda, please click here. To register, please click here
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Lynch Syndrome and Inherited Cancer conference
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There is an opportunity for nurses working within cancer pathways to attend a one-day conference on Lynch Syndrome and Inherited Cancer. Taking place on Wednesday 14th May at the RCP, London, this conference will explain the relevance of inherited cancer in routine clinical practice, including colonoscopy, surgery, cancer prevention and holistic care. Target audience are colorectal cancer MDT members and BCSP teams. Find out more and register here. | |
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Tour of the Wellcome Genome campus
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Our planned tour of the Wellcome Genome Campus on 23 April 23, 10.30am -1.30pm is nearly fully booked. Please email anita.murphy@nnuh.nhs.uk if you would like to attend. We will open a reserve list if there is enough interest to consider running another event later in the year. We are also in discussion to see if holding a virtual event would be possible as well. | |
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Practical Genomics and Genetic Testing for the Non-Geneticist
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In-person at St George’s Hospital, 21 March 2025 The course is designed to upskill clinicians, nurses, midwives, and pharmacists interested in genomics and to help provide practical knowledge and skills to embed genetic testing in the NHS. Find out more here. The programme can be viewed here. | |
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Optimising Pathways for Fetal Anomalies and Pregnancy Loss
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In-person at the Zayed Centre for Research, London, 21 March 2025 A comprehensive session on improving care pathways for fetal anomalies and pregnancy loss. Deputy Director of the Genomics Unit, NHS England, Prof Eamonn Sheridan, along with other esteemed speakers and panellists, will discuss the implications from the EXPRESS study results. Click here to register.
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Nurses and Midwives joint Network Meeting Wednesday 26 March 2025 We will be a celebration of genomics in research with key speakers discussing active research projects and discussing the needs of genomic education to support practice. To attend please email egmsa@nnuh.nhs.uk
Regional Midwives in Genetics and Genomics Network (MiGGs) Meeting Wednesday 23 April 2025 Where we will be discussing the identification and management of haemophilia in pregnancy and labour. To attend, please email egmsa@nnuh.nhs.uk
Regional Nurses in Genetics and Genomics Network Meeting Wednesday 21 May, 12-1pm, Topic TBC To attend, please email egmsa@nnuh.nhs.uk
NEW! Genomic Communities of practice The East GMSA are supporting 16 Genomics Communities of Practice to support healthcare staff across specialities and job roles to share best practice, upskill and better integrate genomic medicine into their clinical practice. You can visit our website here to find out more information about the communities and how to attend. | |
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East Genomics e-learning website launched! | |
We are pleased to announce the launch of our new genomics e-learning platform, which is designed for healthcare professionals looking to develop their knowledge and understanding of genomic medicine, across a range of topics and conditions. this month.
Modules currently available include: | | | |
- Patient Choice: discussing whole genome sequencing
- Genetic Testing for Hereditary Breast Cancer
- Genetic testing for Inherited Cardiac Conditions
- Genetic Carrier Testing in Primary Care
- Rapid Prenatal Exome Sequencing
- Monogenic Diabetes within Maternity Services
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Education, Training and Resources | |
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Meet the East GMSA Nursing and Midwifery Team | |
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