Michelle Bishop Peter Farndon NHS National Genetics Education and Development Centre

1. Developing genetic learning outcomes for medical practitioners based on clinical practice: experience from the UK Michelle Bishop Peter Farndon NHS National Genetics Education and Development Centre

2. National Health Service Scotland 5.1 m • Set up in 1948 • Free at the point of delivery • Funded by central government from taxation • Delivered through local organisations Northern Ireland 1.7 m England (50.4 m) Wales 3 m • 1.3 million staff in England • >120,000 doctors • >400,000 nurses, midwives, health visitors United Kingdom population >60 million

3. Patient access to specialty services • General Practitioner (GP) = gatekeeper General Practice General Practice Specialist community hospital community

4. Medical training in the UK Direct from high school Graduate entry Medical School Training Foundation Training General Practice Training Specialty Training

5. The NHS National Genetics Education and Development Centre Awareness raising and educational needs assessments Promoting clinically relevant genetics education for health professionals Evaluation of Centre activity and impact Embed genetics in curricula and courses Developing resources and supporting educators

6. Step 1: Awareness raising and educational needs assessment • Genetics…… ‘not relevant to my work’ • Why? • Presented as a series of facts • Clinical utility was not explained

8. ‘What genetics knowledge do you need to know in order to do your job’ General Practice General Practice Hospital Making diagnosis Ordering and understanding genetic test results Recommending treatments Treating/ managing condition Implications for patient with condition and for other family members Identifying patients and families with, or at risk of, genetic conditions Indications for referral to specialist

9. Medical students: Knowledge base “You have to know things without thinking before you can think about a patient’s problem” Janet Grant, AMEE 2009 In combinatorial mathematics, a combination is an un-ordered collection of distinct elements, usually of a prescribed size and taken from a given set. In multifactorial inheritance, people develop a condition if their liability, made up of polygenic influences and environment factors, is above a threshold. Establish a ‘genetic framework’ they can use when presented with clinical problems

10. Step 2: Developing educational outcomes Identify which genetics concepts are important for a trainee to know at each stage of medical training General Practice Training Foundation Training Medical School Training Specialty Training Practice based approach

11. Approach used • Collaborative • Participants from specialty and clinical genetics • Consensus • Modified Delphi technique • Note of interest: • How survey was administered speciality specific

12. Modified Delphi approach Round 1: Open question: ‘list knowledge, skills and attitudes’ Round 2: Opinion on the inclusion of statements Round 3: Consensus of round 2 results

13. Round 1:Identifying genetic topics relevant to practice • Open ended question • “What does the trainee need to know/do in order to do their job”

14. Round 1: Identifying genetic topics relevant to practice Round 1: Open question: ‘list knowledge, skills and attitudes’ Responses collated and grouped under broad headings Round 2: Opinion on the inclusion of statements Round 3: Consensus of round 2 results

15. Round 2: Opinion on the inclusion of statements

16. Round 2: Opinion on the inclusion of statements Round 1: Open question: ‘list knowledge, skills and attitudes’ Responses collated and grouped under broad headings Round 2: Opinion on the inclusion of statements Results summarised Round 3: Consensus of round 2 results

17. Round 3: Achieving consensus Round 1: Open question: ‘list knowledge, skills and attitudes’ Responses collated and grouped under broad headings Round 2: Opinion on the inclusion of statements Results summarised Round 3: Consensus on results: 50% agreed ‘needed’ or ‘essential’ = Statements included

18. Moving from knowledge acquisition to outcome based learning Topics, Knowledge, Skills, Attitudes - what a trainee knows • Learning Outcomes • what a trainee does • with their knowledge • Understand and describe the mechanisms that underpin human inheritance • Be able to describe the chromosomal basis of inheritance and how alterations in chromosome number or structure may arise during mitosis and meiosis • Chromosomal basis of inheritance (mitosis and meiosis • Mechanism of origin of numerical chromosome abnormalities Consensus process: Core research team

19. Medical students • Understand and describe the mechanisms that underpin human inheritance • Have an understanding of the role of genetic factors in health and disease • Be able to identify patients with, or at risk of, a genetic condition • Be able to communicate genetic information in an understandable, non-directive manner, being aware of the impact genetic information may have on an individual, family and society • Be familiar with the uses and limitations of genetic testing and the differences between testing and screening • Know how to obtain current information about scientific and clinical applications of genetics, particularly from specialised genetics services

20. Specialist registrars in non-genetics specialities • Be able to identify patients with, or at risk of, a genetic condition • Describe the mechanism that underpin human inheritance and the role of genetic factors in disease • Appreciate the heterogeneity in genetic disease and understand the principles of assessing genetic risk • Be able to manage genetic aspects of a condition including referring patients to genetic services where appropriate • Be able to obtain and communicate up-to-date information about genetics in an understandable, comprehensible, non-directive way • Be able to use genetic testing appropriately, recognising its uses and limitations

21. Identifying patients with, or at risk of, a genetic condition Clinical management Communicating genetic information GP speciality registrars • Learning outcomes reflect three main themes of genetics in primary care practice

22. Genetics learning outcomes across the continuum of medical education “Knowledge into action” General Practice Training Foundation Training Medical School Training Specialty Training Underlying concepts Clinical Application

23. Be familiar with the uses and limitations of genetic testing and the differences between testing and screening Be aware of the differences and similarities between diagnostic, presymptomatic, carrier and susceptibility genetic testing Be aware of the main laboratory techniques to investigate genetic material and their advantages and limitations Be able to use genetic testing appropriately, recognising its uses and limitations Know the clinical indications for ordering genetic tests Know how to organise genetic testing Incorporate the concepts of informed choice and consent into practice For example: genetic testing By the end of training The medical student will…… The specialist trainee will….. Underlying concepts Clinical Application

24. General Practice Training Medical School Training Foundation Training Specialty Training Step 3: Learning outcomes in practice • Endorsed by: • Joint Committee Medical Genetics • British Society of Human Genetics • Integration at local level • Medical school genetics teaching leads • Recognition at National level • General Medical Council

25. Genetic topics included Know risk factors for disease including genetics Know genetic susceptibility to adverse drug reactions Take a focused family history Construct and interpret a family tree when relevant Learning outcomes in practice General Practice Training Foundation Training Medical School Training Specialty Training

26. Learning outcomes in practice General Practice Training Foundation Training Medical SchoolTraining Specialty Training • Endorsed by: • Royal College of Physicians • Integration into specialist curricula • Paediatrics • Neurology • Cardiology (2010)

27. General Practice Training Foundation Training Medical School Training Specialty Training Learning outcomes in practice Integrated into national curriculum • Curriculum statement 6 ‘Genetics in Primary Care’ • Genetics also forms part of the knowledge base assessment

28. Step 4: Supporting the educators RCGP curriculum • Workshops for GP educators ‘Genetics in Primary Care’ Tips and tools for GPs • Network of education facilitators • Scenario-based factsheets • Journal articles • e-learning modules

29. Mental shift in clinician’s perception of genetics Initial project (2003) • Some cardiologists felt genetic education was not necessary “I don’t feel that genetics training would make us better cardiologists” NCHPEG 2006 Fast forward (2009) • Formal request from curriculum committee for learning outcomes • Included revised curriculum 2010

30. What we have learnt • Collaboration • Engagement → acceptance • Network of champions • Driver integration into curricula • Resources to support educators • Develop resources to support learning outcomes • Process for regular review • Representative panel • Respond to genetic advances

31. Summary • Developed learning outcomes • Clinically relevant • Collaboration • Nationally endorsed and integrated into curricula • Support educators by developing resources • Continually reviewed

32. Michelle Bishop michelle.bishop@geneticseducation.nhs.uk NHS National Genetics Education and Development Centre www.geneticseducation.nhs.uk