The RCOG has brought together a collection of video and audio podcasts, designed for clinicians to discover more about the use of Genomics in maternity and gynaecological care and gain key insights into the clinical aspects of development and change within Women’s healthcare.
The podcasts provide essential information on the current and future impact of genomics on the O&G subspecialties and cover themes including the use of genomics in day-to-day clinical practice affecting healthcare for women and their babies and discusses important issues including information giving, consent and ethical dilemmas that may be evoked using genomics in our subspecialty care.
Genomics in Women’s Health
This first episode is an introduction as to why RCOG feels genomics is so important to everyone working in Obstetrics and Gynaecology. It covers some of the newer developments in genomics, their relevance to O&G and what the RCOG is doing to address this as well as setting the scene for the other podcasts in this series.
Presenter: Dr Edward Morris MD FRCOG is regional medical director for the East of England, a post he started in December 2022, following his three-year presidency at the Royal College of Obstetricians and Gynaecologists. Dr Morris is a Consultant in Gynaecology at the Norfolk and Norwich University Hospital NHS Foundation Trust and Honorary Senior Lecturer at Norwich Medical School, University of East Anglia and leads specialist menopause and until recently, tertiary endometriosis services.
Broad principles regarding genomic analyses for disease prediction, diagnosis and management in O&G
This episode looks at how common variants can assess the probability of disease, the different types of genomic tests available, approaches to genomic research, how UK genomic services are organised and how to interpret a genomics test results report.
Lucy Whitaker is a Clinical Lecturer in Obstetrics and Gynaecology at the University of Edinburgh and an ST7 at the Royal Infirmary of Edinburgh. Her Lectureship focuses on precision treatment and drug repurposing to reduce endometriosis-associated pain, which has included projects utilising genomics to predict treatment response, and optimise dosing within clinical trials.
Clare Turnbull is a Professor in Translational Cancer Genetics at the Institute of Cancer Research and an NHS consultant in cancer genetics at the Royal Marsden Hospital. She was previously clinical lead for cancer genomics for the 100,000 Genomes Project.
Genomics in Reproductive Medicine
Genomics is beginning to play an important role in the care of patients with infertility and recurrent miscarriage. Pre-implantation genetic testing can help identify single gene disorders, and structural or numerical chromosomal disorders. Gene-disease relationship studies are likely to identify polygenic patterns that represent increased risk for infertility or miscarriage. This episode discusses these advances in practice and the ethical and governance considerations required.
Professor Arri Coomarasamy, MBChB, MD, FRCOG, FMedSci is a professor of Gynaecology and Reproductive medicine at the University of Birmingham, Director of the Tommy’s National Centre for Miscarriage Research and co-director of the WHO Collaborating Centre for Global Women’s Health.
Dr James Duffy is a specialist trainee in obstetrics and gynaecology serving local communities across North East London. He cares passionately about value-based medicine to address health inequality within communities challenged by inequitable access to local health systems, social deprivation, and poor living environments. He has worked to further this agenda within regional, national, and international organisations, including NHS London, NHS England, and the World Health Organization. His research utilises scalable interventions embedded in digital health systems to facilitate improvement in preconception and reproductive health. Such approaches can secure proportional intervention and personalised care.
Genomics in Fetal Medicine
Prenatal genomic investigation is an integral part of fetal medicine services. Multidisciplinary working helps parents to seek information about chromosome or genetic differences when fetal structural malformations are discovered on ultrasound. An understanding of conventional testing, as well as next generation sequencing, is important for all those involved in maternity care. Collaboration between obstetricians and geneticists may also be required to investigate other adverse pregnancy outcomes, and enhance future pregnancy management. In this episode, the potential consequences for patients of discovering a genetic condition is discussed.
Mr James Castleman MA MD MRCOG is a Consultant Obstetrician and subspecialist in Maternal and Fetal Medicine at Birmingham Women's and Children's Hospital.
Dr Jessica Woods is a registrar in clinical genetics at Leeds Teaching Hospitals with a specialist interest in Prenatal Genomics. She completed a number of years working in obstetrics & gynaecology prior to training in clinical genetics. Jessica is chair of the Fetal & Women’s Health GeNotes working group for NHS England Genomics Education and contributes to a number of national groups involved in mainstreaming of genomics within Obstetrics & Gynaecology.
Genomics in Gynaecological Cancer
Gynaecological cancer treatment has undergone a paradigm shift due to the unlocking of the cancer genome. Cancers are now defined and treated based on the specific mutations that drive them. Cancer screening has also moved in the age of genomics with many tests now based on analysis of DNA. We also better understand and can mitigate what inherited conditions lead to gynaecological cancer. Whilst this is exciting it can also pose ethical challenges. This podcast discusses the genomic revolution in gynaecological cancer, what it means to clinicians and patients now and what it will mean in the future.
Dr Neil Ryan PhD MRCS MRCOG FHEA is a Clinical Lecturer within the Institute of Regeneration and Repair and the Institute of Genetics and Cancer, University of Edinburgh. He is the RCOG Subspecialty Fellow in Gynaecology Oncology at the Simpson Centre for Reproductive Health, Royal Infirmary Edinburgh.
Professor Emma Crosbie PhD FRCOG is a National Institute for Health and Care Research (NIHR) Advanced Fellow, Professor and Honorary Consultant Gynaecological Oncologist at the University of Manchester and Manchester University Hospitals NHS Foundation Trust. She is Chair of the RCOG Academic Board.
Genomics in Maternity Care
This podcast discusses the Genomics England Newborn Genomes Programme, and its implications for maternity teams. The programme will deliver the Generation Study beginning late 2023 in a number of NHS Trusts in England, and will evaluate the utility and feasibility of using whole genome sequencing to screen newborns for a larger number of childhood-onset rare conditions.
Donna Kirwan is the National Lead Midwife for Genomics at NHS England and provides clinical expertise and leadership across several teams and organisations to mainstream genomics as part of the NHS England’s first national genomics strategy. Donna previously worked in the NHS as a gynaecology nurse, specialist midwife in fetal medicine and amniocentesis practitioner. As a national projects officer for the NHS Fetal Anomaly Screening Programme, she led on the development of the first national mid-trimester ultrasound standards for England and prior to her current role was based in clinical genetics a recruitment practitioner for the 100,000 Genomes Project.
Michelle Lyne is a registered midwife and Education Advisor at the Royal College of Midwives. An experienced health professional, she has worked in education as well as The Nursing and Midwifery Council and has a strong background in regulation, professional advice, project leadership, public engagement and higher education.
The podcasts can also be accessed as a course via the RCOG Learning online resource with the added benefits of:
- Receipt of a certificate for completion of the course
- Reflective notes can be recorded on the resource whilst accessing the content
- Learners can provide us with feedback on the content via the survey.
Access the full course via RCOG Learning here.