© 2009 nhs national genetics education and development centresupporting genetics education for...

© 2009 NHS National Genetics Education and Development Centre

Supporting Genetics Education for Healthwww.geneticseducation.nhs.uk

Developing genetic learning outcomes for medical

practitioners based on clinical practice: experience from the

UK Michelle BishopPeter Farndon

NHS National Genetics Education and Development Centre



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



Patient access to specialty services

• General Practitioner (GP) = gatekeeper

General Practice

Specialist General Practice

community hospital community



Medical training in the UK

Direct from high school Graduate entry

Medical School Training

Foundation Training

General Practice Training

Specialty Training



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



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



‘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



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



Step 2: Developing educational outcomes

Identify which genetics concepts are important for a trainee to know at each stage of medical training


Foundation Training


Specialty Training

Practice based approach



Approach used

• Collaborative– Participants from specialty and clinical

genetics

• Consensus– Modified Delphi technique

Note of interest: How survey was administered speciality specific



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



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”






Responses collated and grouped under broad headings

Round 1: Identifying genetic topics relevant to practice







Results summarised






Round 3: Consensus on results: 50% agreed ‘needed’ or ‘essential’= Statements included

Round 3: Achieving consensus


Results summarised



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



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



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



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 managemen

t

Communicating genetic

information



Genetics learning outcomes across the continuum of medical education

Underlying concepts Clinical Application

“Knowledge into action”


Foundation Training


Specialty Training



For example: genetic testing

Be familiar with the uses andlimitations of genetic testingand the differences betweentesting 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 testingappropriately, recognising itsuses 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 concepts Clinical Application



• 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


Foundation Training

General Practice TrainingSpecialty Training



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


Foundation Training

General Practice TrainingSpecialty Training




• Endorsed by:– Royal College of Physicians

• Integration into specialist curricula– Paediatrics– Neurology– Cardiology (2010)


Foundation Training


Specialty Training



Integrated into national curriculum– Curriculum statement 6

‘Genetics in Primary Care’

– Genetics also forms part of the knowledge base assessment


Foundation Training


Specialty Training




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



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



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



Summary

• Developed learning outcomes

– Clinically relevant

– Collaboration

• Nationally endorsed and integrated into

curricula

• Support educators by developing resources

• Continually reviewed



Michelle Bishop

[email protected]

NHS National Genetics Education and Development Centre

www.geneticseducation.nhs.uk

© 2009 nhs national genetics education and development centresupporting genetics education for...

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