N&M Lunch and Learn
Think Patient Care, Think Genomics
A series of educational Lunch and Learn sessions for nurses and midwives, providing insight into how genomic testing is used across different areas of healthcare. Organised in collaboration with the North Thames Genomic Medicine Service, professionals share their expertise of genomic tests available for patients through different patient pathways.
Recordings from past sessions can be found below and look out for future sessions in our calendar and on Twitter.
Cystic Fibrosis screening and diagnosis
Topics and speakers:
Carrier testing – Cathryn Moss, Principle Genetic Counsellor, St George’s Hospital
This session offers nurses and midwives a practical guide to Cystic Fibrosis carrier testing including eligibility criteria and interpretation of results.
Prenatal diagnosis: a case study – Dr Zen Ling, Maternal Fetal Medicine Subspecialist Trainee, St George’s Hospital
This session offers a case scenario of suspected Cystic Fibrosis in the prenatal period, providing a discussion on the investigation and options to parents.
Diagnosis following the Newborn blood spot – Jacqui Cowlard, Paediatric CF CNS, Royal London Hospital
This session provides an overview of the role of the CF clinical nurse specialist in supporting patients and their parents following screening and diagnosis of the Newborn.
Monogenic Diabetes in pregnancy
Monogenic diabetes is a rare form of diabetes caused by a mutation in a single gene and can often be misdiagnosed as type 1 diabetes. Accurate diagnosis and identification of monogenic diabetes can often lead to treatment changes that improve diabetes control and other outcomes, and there is a key role for nurses and midwives in helping patients receive the correct diagnosis.
This session introduces monogenic diabetes and the importance of diagnosis, and discusses how to test and treat this condition for patients in the antenatal setting.
Speakers:
- Dr Niki Margari, Diabetes and Endocrinology Consultant at University College London Hospital
- Dr Nishel Shah, Consultant Obstetrician at Chelsea and Westminster Hospital
Lynch Syndrome
Topics and speakers:
An introduction to Lynch Syndrome and the tumour pathway: a case discussion – Dr Adam Shaw, Consultant in Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust
Genetic testing: the germline pathway and challenges for the patient and family members – Andrea Forman, Principal Genetic Counsellor, St George’s University Hospitals NHS Foundation Trust
The role of the nurse now and in the future – Vicky Cuthill, Nurse Consultant, St Mark’s Hospital
A patient perspective: Tracy’s story – Tracy Smith – Trustee for Lynch Syndrome UK
Familial Hypercholesterolemia
Topics and speakers:
What is FH? – Anthony Wierzbiki, Guy’s and St Thomas’ Consultant and honorary professor in metabolic medicine and
chemical pathology
Voice of the patient and HEART UK support for patients –
Tina Dawson, HEART UK Lipid Specialist Nurse and Jamie Rhind, Heart UK Service Development Manager
Role of the nursing and midwifery workforce – Dominic Studart, North Thames Genomic Medicine Service Alliance Interim Lead Nurse and FH Project Lead
Q&A session
Spinal Muscular Atrophy
Topics and speakers:
Spinal muscular atrophy (SMA) is a genetic condition affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle).
An introduction to Spinal Muscular Atrophy (SMA), Dr Samantha Yuen-Sum Chan, Consultant Paediatric Neurologist, St George’s University Hospitals NHS Foundation Trust
Prenatal considerations of SMA, Dagmar Tapon, PhD, MSc Lead genetic counsellor, Centre for Fetal Care, Queen Charlotte’s and Chelsea Hospital, Imperial College Healthcare NHS Trust. Honorary senior lecturer at Imperial College
Panel discussion, Panellist – Clare Galtrey, Consultant Neurologist, St George’s University Hospitals NHS Foundation Trust and Frimley Park Hospital NHS Foundation Trust
A parents experience of their son’s diagnosis, Portia Thorman, Advocacy Lead for SMA UK since January 2022
Lung Cancer and Genomics
Topics and speakers:
Introduction and Welcome
Tracey Cole, Darzi Clinical Fellow, North Thames GSMA
What Lung Cancer nurses need to know
-Explanation of terms
Is lung cancer inheritable
-What does PCR/IHC/NGS/fusion/rearrangement/mutation mean?
Adam Januszewski, Medical Oncology Consultant, St Bartholomew’s Hospital.
Patient voice and how can the Lung CNS help with the patient ‘waiting for results’ anxieties.
Angela Terry, Chair-person of EGFR+ve UK (patient advocacy and peer support group)
Genomic medicine and lung cancer including national test directory information Tracey Cole.
Renal Genomics: Steroid-Resistant Nephrotic Syndrome
Topic and Speakers:
Steroid resistant Nephrotic Syndrome (SRNS) is one of the most common causes of kidney failure in children and adults with an incidence of 1-2 per 100. Several genes have been found to cause SRNS. Knowing if SRNS is inherited can assist with the ongoing management of patients and their family members.
Ania Koziell, Ania is a consultant nephrologist and Senior Lecturer with a research focus on the genomics of kidney disease. She is also the lead for Renal Genomics for the South East Genomic Medicine Alliance (GMSA) which aims to implement genomics into the NHS to support a precision medicine approach thus improving diagnostics and therapeutic decision making.
Eduardo Lee and Alisa Wong, Eduardo and Alisa are Renal Genomics Clinical Nurse Specialists working across South East and North Thames GMSA supporting the nephrology departments in the integration of genomic medicine in renal patient care and have leading roles in expanding awareness and education/training about renal genomics in practice.
Carrier Testing For Tay Sachs Disease and Other Jewish Genetic Disorders
Topic and Speakers:
Carrier testing for Tay Sachs disease and other Jewish genetic disorders
Anaar Sajoo, Genetic Counsellor, North West Thames Regional Genetics Service
Nicole Gordon, CEO, Jnetics (Jewish screening charity www.jnetics.org)
1. Tay Sachs screening background
2. Recessive inheritance & ethnicity
3. National Screening Programme
4. Expanded testing
5. Widening access & improving awareness
6. Referral pathways
7. Test directory – challenges
8. ‘How to’ & ‘what for’
Huntington's Disease
Topic and Speakers:
Huntington’s disease is a genetic condition which affects the brain and nervous system. Huntington’s can affect movement and make changes to cognitive and mental health. Living with Huntington’s disease can be very challenging for patients and their families.
Speakers:
Daniela Rae, is a Consultant Nurse in Huntington’s disease and Clinical Lead for the the Huntington ’s Disease Centre, UCLH. She joined the team in February 2018 from Aberdeen, Scotland where she previously runs a nurse-led HD management clinic in Grampian and Highland caring for at risk and symptomatic individuals with HD and their families. She has been working with HD families for over 15 years and is actively involved in the European Huntington’s Disease Network. Daniela was awarded a Chief Scientist Office (CSO) Research Training Fellowship in Huntington’s Disease (HD) in 2015 to undertake research into the organisational aspects of care delivery in early and mid-stage HD with a focus of identifying outcomes of importance for use in future evaluations of care delivery in HD.
Harriet McMillan, graduated the Manchester MSc in Genetic Counselling in 2017. Worked as a Genetic Counsellor in clinical genetics in Manchester for 5 years, and moved to the St George’s genetic counselling team in the last year. Developed a special interest in neuropsychiatric genetics when working in Manchester, and have been working in this speciality for almost 5 years.
Patricia Ribeiro, background in Clinical Research Nursing and Operating Theatres. Main interests illness acceptance, quality improvement and research. Completed Nursing Degree in Coimbra, Portugal in 2014.Recently appointed Clinical Nurse Specialist for Huntington’s Disease at St George’s Hospital. Working alongside MDT team on HD clinic by coordinating clinical care and signposting patients and families to appropriate services. Collaborating in Huntington’s Disease research studies.
Mental Health Service and Genomics
Mental health services and genomic medicine: embedding genomic testing in the memory clinic
Agenda:
- The role of Genomics in mental health services and dementia care
- The unmet needs for genomic investigations in mental health services
- Spotlight on the patient experience
- The North Thames GMSA transformation project – embedding genomic testing in the memory clinic
Speakers:
- Dr Nick Bass, Clinical Associate Professor, UCL
Inherited Epilepsies, genomics & comprehensive care
Topic and Speakers:
Epilepsy is a common neurological condition. A genetic basis for epilepsy has long been known of and advances in genetic testing has increased our ability to diagnose genetic causes of epilepsy.
Join our speakers to hear about genetic epilepsy, genetic testing and pathways available for patients and their families.
Speakers include:
• Dr Elizabeth Galizia, Consultant Neurologist, SGUH, Overview of Inherited epilepsies
• Mark Mencias, Neurogenomics Nurse, SGUH & SEGMSA, Genomic testing and the role of the Neurogenomics CNS in providing comprehensive genomic healthcare
Unique-Supporting families with rare chromosome or gene disorder
Topic and Speakers:
As part of rare chromosome awareness week, we are excited to be joined by representatives from Unique, who will be discussing their role in supporting patients and professionals with pre and postnatal diagnosis of rare chromosome or gene disorders.
This talk will also cover topics including implications of a diagnosis, and the language used by healthcare professionals.
Speaker included:
Anita Davis Anita has worked as part of the Unique team for the last year. Her role at Unique is to support families and professionals with rare chromosome and specific single gene disorders. She is passionate about giving a listening ear and support to families who are facing a tough time. Her role is to provide information and answer queries and to match families based on their rare chromosome disorder, symptoms or treatments.
Professionally Anita has worked as a Midwife for 26 years. In the latter part of her midwifery career, she was working in a department which offered screening and counselling for expectant mums, when an abnormality had been detected in a pregnancy. This is where she came across unique, when she was doing a genetic course at work.
Anita is also a mum to 3 busy teenage boys, who all keep her on her toes and have their own unique challenges in life. Her eldest son, who is now fit and well, had cancer age 14 months old. Her middle son is on the autistic spectrum and the youngest son has size 15 feet, which presents a whole new challenge in itself!’
Website: www.rarechromo.org
Our Future Health
Topic and Speakers:
Join us for our thirteenth edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare. Professionals will share their expertise of genomic tests available for patients through different patient pathways.
Hear from Our Future Health, the largest planned UK health research programme. This session will cover the main programme goals, including how Genomics will help researchers tackle disease and what personal Genomic-related feedback the target 5 million participants may be offered in the future.
Inherited Cardiac Conditions and Sudden Adult Death
Topic and Speakers:
Join us for our fourteenth edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare. Professionals will share their expertise of genomic tests available for patients through different patient pathways.
This session will cover:
The role of Pathologists and autopsy in identifying deaths with a cardiogenetic cause.
The role of Nurses in the national inherited cardiac conditions transformation project.
Spotlight on the patient and family experience of inherited cardiac conditions and sudden adult death.
Tuberous Sclerosis Complex
Tuberous Sclerosis Complex (TSC): an update for health professionals
TSC is a rare genetic condition that causes benign tumours to grow in the brain as well as other areas of the body. This is a lifelong condition, with no cure, but some symptoms can be treated. Join our speakers to hear more about this condition, the testing, care pathways and support available for patients and their families.
Agenda and speakers:
- Dr Nicholas Annear, Consultant in Acute Medicine & Nephrology, SGUH, Overview of Tuberous Sclerosis Complex and Genomic testing
- Lydia Israel, Clinical Nurse Specialist (CNS) for Tuberous Sclerosis Complex, SGUH, The CNS as care coordinator for patients with a rare genetic condition.
- Anna Gaunt, Support Line Manager, Tuberous Sclerosis Association (TSA), Support for anyone affected by Tuberous Sclerosis Complex
Prostate Cancer and Genetic Factors
Join us for our sixteenth edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare.
Agenda and speakers:
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Prostate cancer and genetic factors
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The role of nurses in prostate cancer services
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Pathways to referral & treatment with Olaparib
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Resources and research opportunities
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Genomic tests available via the National Test Directory
Genomics & Breast Cancer
Join us for our seventeenth edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare.
Agenda:
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Breast cancer and genetic factors
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The role of nurses in breast cancer services
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Pathways to referral & treatment
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Resources and research opportunities
Patient Story
Learn About The Galleri Trial
Join us for our eighteenth edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare.
Agenda and Speakers:
NHS-Galleri trial
1. Background
2. Introduction to the Galleri® test
3. Trial design and objective
4. Enrolment strategy
5. Result delivery process
6. Referral pathway management
7. Behavioural science research
8. Future
Speakers
• Dr Thomas Round, academic GP and clinical lead for NHS-Galler trial, King’s College London Cancer Prevention Trials Unit
• Ian Lowenhoff, Trial Manager, King’s College London Cancer Prevention Trials Unit
• Simone Tal, Clinical Research Nurse, Guy’s and St Thomas’ NHS Foundation Trust
• James Aroloye, Participant Pathway Navigator, King’s College London Cancer Prevention Trials Unit
• Ninian Schmeising-Barnes, Behaviour Science Research Assistant, Queen Mary University of London
Genomics & Myotonic Dystrophy
Join us for our nineteenth edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare.
Speakers:
Generation Study
Join us for our twentieth edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare.
Speakers:
Sally Shillaker: Clinical Content Developer, Genomics England
Joanna Kellett: Research Team Leader, Chelsea and
Westminster Hospital
Portia Thorman: Advocacy Lead, Spinal Muscular
Atrophy UK
Haemoglobinopathies
Join us for our twenty-first edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare.
This is a group of inherited genetic conditions which includes Sickle Cell Disease and Thalassaemia. Over 1,000 genetic mutations have been linked with these conditions.
Monogenic Diabetes in Maternity
Join us for our twenty-second edition of Lunch and Learn, a series of webinars for nurses and midwives to get an insight into how genomic testing is used across different areas of healthcare.
Did you know that 80% of people with monogenic diabetes are currently misdiagnosed?!
Here in the South East we have been leading a new project to improve genetic testing for monogenic diabetes.
We’ve recently hosted a national study day with midwives and nurses from all over England joining us to learn more. However many of you couldn’t join us, so we are organising an online learning session where we’ll share our knowledge and answer your questions.
Our specialist MODY midwives, Beth & Nicola will be leading this session with talks from other experts including Endocrinologists and how to care for women with MODY during their pregnancy.
