Get Started with Genomics CPD Course
The implementation of next-generation sequencing technologies has enabled genomics to become a mainstream subject in medicine. The UK has now adopted Whole Genome Sequencing (WGS) in clinical practice, and the use of genomic sequencing technologies in healthcare has become widespread across many countries. Healthcare professionals across the world need the skills to understand genomics and what it means for their patients.
This course will provide participants with the basic principles of genomic medicine. The content will include the distinction between genetics and genomics and a focus on understanding the different modes of inheritance. With a focus on practical case studies and a workshop-style of delivery, the course will offer the opportunity to engage with academics and fellow participants and build collaborative networks.
Course Leads
Professor Anna Murray - Associate Professor in Human Genetics
Professor Caroline Wright - Professor in Genomic Medicine
Delivery format
This course will be delivered face to face and virtually. The course will involve workshops on two consecutive days (24th and 25th November 2022).
The sessions will use a combination of participatory methodologies including presentations, case studies, group discussions and problem-based learning with opportunities for discussion and debate.
The course will include approximately 14 taught hours plus self-directed study. We advise you to make every effort to join all sessions to gain the most out of the course. But if you are unable to attend any of the sessions the sessions will be recorded and made available.
Learning outcomes
At the end of the course the learner will be expected to be able to:
- Define the key concepts of genetics and genomics
- Understand the main approaches to genomic testing and principles of variant classification
- Understand the main modes of inheritance in humans (autosomal dominant, autosomal recessive, X-linked, and mitochondrial) and recognise their characteristic features and patterns
- Understand that genetic disorders might be inherited from an affected parent, an unaffected parent, both unaffected parents or arise spontaneously
- Apply the knowledge of mode of inheritance in the context of a clinical report and the given family scenario
- Become familiar with the basics of genome browsers to view gene information and interpret genomic information in clinical reports
Delegate Rates*
In-person - £600
In-person Early Bird rate - £550 until 30th September 2022
Online only - £500
*For two contact days including access to resources and teaching materials.
Certificate and Accreditation
Standard course fee - £500
(inclusive of fully interactive pre-course reading and resources, 2 online contact days, and access to resources developed by the faculty)
Limited number of fully-funded scholarships for international health care practitioners from selected countries.
Who is it for?
The course is aimed at clinicians and other healthcare professionals who need an introductory course in genomics. This course would be an ideal access course for those wishing to pursue further studies, in particular the MSc in Genomic Medicine.
Programme at a Glance
Day 1
On day 1, we will introduce the core terminology of genomics and provide an overview of the methodologies available in the field. There will be a focus on analysis of clinical reports. We will then have practical sessions to discuss two different scenarios in clinical practice.
|
Title |
Time |
Content |
|
Lecture |
10:00-11:00
|
Introductory concepts in genomics: terminology, modes of inheritance, genomic testing methodologies, introduction to variant nomenclature |
|
Break |
11:00-11:30 |
|
|
Workshop 1
|
11:30-13:00
|
Case 1: Autosomal dominant disorder Key concepts: rationale for targeted sequencing vs exome vs panel test. Interpretation of clinical reports. |
|
Break |
13:00-14:00 |
|
|
Lecture |
14:00-15:00 |
Genetic variation, genome browsers and online databases |
|
Workshop 2 |
15:00-17:00
|
Case 2: Autosomal recessive disorder Key concepts: consanguinity, recurrence risk, family pedigree, wider family testing |
|
Guest lecture
|
17:00-18:00
|
To be confirmed |
Day 2
On day 2, we will have the opportunity to reflect on the concepts introduced on day 1 and will continue applying key genomics concepts to the analysis and interpretation of two further clinical case studies.
|
Title |
Time |
Content |
|
09:00-09:30 |
Reflection on learning from day one |
|
|
Lecture |
09:30-10:30 |
Variant interpretation guidelines |
|
Workshop 3
|
10:30-12:30
|
Case 3: Cancer predisposition disorder Key concepts: recurrence risks, inherited vs acquired mutation, incomplete penetrance, variant classification |
|
Break |
12:30-13:30
|
|
|
Workshop 4
|
13:30-15:30 |
Case 4: X-linked disorder Key concepts: benefits of rapid genome-wide parent-offspring sequencing and gene-agnostic analysis |
|
Q&A session
|
15:30-16:00
|
|
Would you like to acquire new skills, progress in your career, and continue to learn?
Whether you study on-campus, virtually, or via a blended learning programme, you'll be supported by the University of Exeter's world-class faculty with wide-ranging opportunities to develop interdisciplinary and vocational skills.
Find out what options are available to you for further study.
Speakers
Prof Anna Murray
Associate Professor in Human Genetics, Scientist with expertise in common disease genomics
Anna is an Associate Professor in Human Genetics in the College of Medicine and Health. She is part of the 'Genetics of Complex Traits' research group and Programme Director of the Masters in Genomic Medicine. Her main research expertise is in the field of reproductive genetics and she has published on single gene mutations which cause premature ovarian failure and also genome-wide studies to detect novel loci involved in reproductive ageing.
Anna is also discipline lead for genetics at UEMS. She was involved in the development and implementation of the Bachelor of Medical Sciences degree programme. Anna runs Research in Action Student Selected Components in her research field, is an academic and personal tutor, delivers lectures on genetics and facilitates problem based learning and LSRC sessions across the Medical School taught programmes.
Dr Jonathan Locke
Lecturer in Postgraduate Education, Scientist with expertise in molecular biology
Dr Locke received a Masters of Biology in Molecular & Cellular Biology from the University of Bath in 2006. Following this, he obtained a PhD from the Peninsula Medical School (Universities of Exeter & Plymouth) under the supervision of Dr Lorna Harries. During his doctoral studies, he became interested in understanding how genetics can be used to further our understanding of disease biology and pathogenesis. Following completion of his PhD he has continued to work in the area of diabetes genetics.
Dr Locke also teaches on the MSc Genomic Medicine and BSc Medical Sciences programmes. He is, in particular, interested in developing student’s transferable skills, developing such material for Academic Tutor Groups and taught modules (e.g. Professional & Research Skills).
Tina Teague
Professor in Genomic Medicine, Scientist with expertise in rare disease genomics
Caroline trained in Natural Sciences at the University of Cambridge, where she obtained an MA, MSci and PhD specialising in biological chemistry. She joined the University of Exeter as a Senior Lecturer in 2017 and was promoted to a personal chair in genomic medicine in 2020. Her main research interests are in the use of genome-wide sequencing technologies for the diagnosis of rare diseases, particularly developmental disorders. She is interested in understanding the penetrance of rare disease-causing variants, improving variant filtering and interpretation, modelling the effect of missense variants using in silico protein structural analysis, and exploring the policy and ethical issues associated with implementation of genome-wide sequencing in healthcare.
Caroline leads the Enhanced Interpretation Genomics England Clinical Interpretation Partnership (GeCIP), and was previously seconded part-time to Genomics England as scientific lead for validation and feedback in the early stages of the UK 100,000 genomes project. She previously worked at the Wellcome Sanger Institute in Cambridge, where she remains a visiting scientist and part of the management committee for the UK Deciphering Developmental Disorders Study. Prior to that, she was Head of Science at the PHG Foundation in Cambridge.
Dr Emma Baple
Clinical Senior Lecturer, Consultant clinical geneticist with expertise in community genetics
Emma is a Clinical Senior Lecturer in Genomic Medicine. Emma leads the Rare Disease Research group at the University of Exeter College of Medicine and Health, alongside Professor Andrew Crosby with whom she works closely. Her principal area of interest is in the use of new genetic technologies to identify the cause of rare genetic disorders and the translation of that knowledge into improved clinical diagnostic testing and treatment strategies. Emma’s main area of research involves the investigation of the molecular causes of inherited disorders within a community setting, stemming from the identification of the causal disease gene through to more detailed studies of the biological pathway and disease mechanism responsible.
Emma is also the Clinical Lead for Rare Disease Validation and Feedback at Genomics England, as well as the Medical Lead for Rare Disease in the Southwest Genomic Laboratory Hub.
Dr Leigh Jackson
Lecturer in Genomic Medicine (University of Exeter Medical School), Scientist with expertise in genomic medicine
Leigh Jackson graduated from the University of Nottingham with a degree in Genetics and a PhD in Stem Cell Genetics and their utility in the treatment if neurodevelopmental disorders. He went on to work in an endometrial cancer and fertility laboratory where he became interested in the ethical issues surrounding genetic testing. Leigh has conducted research around incidental findings and direct-to-consumer testing and the impacts these have on patients and the public.
After serving as the Education and Training lead for the South West Genomic Medicine Centre, Leigh moved to the University of Exeter to take up a position as Lecturer in Genomic Medicine. He has extensive teaching experience including the development of the Gen-Equip modules for primary care genetics, which was awarded a Gastein Forum, European health award, as well as teaching on the MSc in Genomic Medicine where he leads the ethical, social and legal issues module and co-leading an undergraduate module on Medical Genomics. Leigh is also Scientific lead for the COG-Train Programme providing training to lower and middle income countries to increase SARS-CoV-2 sequencing capacity. During the pandemic, Leigh was seconded to COG-UK to act as Scientific Project Manager, overseeing all National sequencing projects.
