1. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk National Health Service Set up in 1948 Free at the point of delivery Funded by central government from taxation Delivered through local organisations 1.3 million staff in England >120,000 doctors >400,000 nurses, midwives, health visitors Scotland 5.1 m Wales 3 m Northern Ireland 1.7 m England (50.4 m) United Kingdom population >60 million

3. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Patient access to specialty services General Practitioner (GP) = gatekeeper General Practice Specialist General Practice communityhospitalcommunity

4. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Medical training in the UK Direct from high schoolGraduate entry Medical School Training Foundation Training General Practice Training Specialty Training

5. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk The NHS National Genetics Education and Development Centre Promoting clinically relevant genetics education for health professionals Awareness raising and educational needs assessments Embed genetics in curricula and courses Developing resources and supporting educators Evaluation of Centre activity and impact

6. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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

7. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk

8. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk ‘What genetics knowledge do you need to know in order to do your job’ General Practice Hospital General Practice Identifying patients and families with, or at risk of, genetic conditions Indications for referral to specialist Treating/ managing condition Implications for patient with condition and for other family members Making diagnosis Ordering and understanding genetic test results Recommending treatments

9. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Medical students: Knowledge base In combinatorial mathematics, a combination is an un-ordered collection of distinct elements, usually of a prescribed size and taken from a given set. “You have to know things without thinking before you can think about a patient’s problem” Janet Grant, AMEE 2009 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Step 2: Developing educational outcomes Identify which genetics concepts are important for a trainee to know at each stage of medical training Medical School Training Foundation Training General Practice Training Specialty Training Practice based approach

11. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Approach used Collaborative –Participants from specialty and clinical genetics Consensus –Modified Delphi technique Note of interest: How survey was administered speciality specific

12. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Round 1: Open question: ‘list knowledge, skills and attitudes’ Round 2: Opinion on the inclusion of statements Round 3: Consensus of round 2 results Modified Delphi approach

13. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Round 1: Open question: ‘list knowledge, skills and attitudes’ Round 2: Opinion on the inclusion of statements Round 3: Consensus of round 2 results Responses collated and grouped under broad headings Round 1: Identifying genetic topics relevant to practice

15. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Round 2: Opinion on the inclusion of statements

16. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Round 1: Open question: ‘list knowledge, skills and attitudes’ Round 2: Opinion on the inclusion of statements Round 3: Consensus of round 2 results Responses collated and grouped under broad headings Results summarised Round 2: Opinion on the inclusion of statements

17. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Round 1: Open question: ‘list knowledge, skills and attitudes’ Round 2: Opinion on the inclusion of statements Round 3: Consensus on results: 50% agreed ‘needed’ or ‘essential’ = Statements included Round 3: Achieving consensus Responses collated and grouped under broad headings Results summarised

18. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Moving from knowledge acquisition to outcome based learning Learning Outcomes - what a trainee does with their knowledge Topics, Knowledge, Skills, Attitudes - what a trainee knows a)Chromosomal basis of inheritance (mitosis and meiosis b)Mechanism of origin of numerical chromosome abnormalities 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 Consensus process: Core research team

19. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk GP speciality registrars Learning outcomes reflect three main themes of genetics in primary care practice Identifying patients with, or at risk of, a genetic condition Clinical management Communicating genetic information

22. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Genetics learning outcomes across the continuum of medical education Underlying conceptsClinical Application “Knowledge into action” Medical School Training Foundation Training General Practice Training Specialty Training

23. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk For example: genetic testing 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 By the end of training The medical student will…… The specialist trainee will….. Underlying conceptsClinical Application

24. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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 Step 3: Learning outcomes in practice Medical School Training Foundation Training General Practice Training Specialty Training

25. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Learning outcomes in practice 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 Medical School Training Foundation Training General Practice Training Specialty Training

26. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Learning outcomes in practice Endorsed by: –Royal College of Physicians Integration into specialist curricula –Paediatrics –Neurology –Cardiology (2010) Medical School Training Foundation Training General Practice Training Specialty Training

27. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Integrated into national curriculum –Curriculum statement 6 ‘Genetics in Primary Care’ –Genetics also forms part of the knowledge base assessment Medical School Training Foundation Training General Practice Training Specialty Training Learning outcomes in practice

28. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk 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. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Summary Developed learning outcomes –Clinically relevant –Collaboration Nationally endorsed and integrated into curricula Support educators by developing resources Continually reviewed

32. © 2009 NHS National Genetics Education and Development CentreSupporting Genetics Education for Health www.geneticseducation.nhs.uk Michelle Bishop michelle.bishop@geneticseducation.nhs.uk NHS National Genetics Education and Development Centre www.geneticseducation.nhs.uk