1. Getting Involved in Research: Genetic Counselling Jill Clayton-Smith Central Manchester University Hospitals Foundation Trust

2. Why do Research? Doctor/Scientist Find better treatments Find out cause Find out how to do things better Requirement of job Academic challenge Prove a point Path to fame and fortune Patients Find better treatments Find out cause Find ways of making life easier Know what the future holds Help others in same situation

3. Involving “Users” in Research Helps focus on topics which are of practical importance Enables design of participant friendly studies Users may have useful research skills Easier to disseminate findings to the people who need to know them Can be good for users’ self esteem

4. Why the recent emphasis on involving users in research? Now established as good practice A requirement of most funding bodies – “Users should be involved at all stages of research from design to dissemination”

5. What Is Genetic Counselling? A two-way discussion where a doctor/genetic counsellor provides information concerning: Diagnosis Cause and natural history Implications for management Interpretation of laboratory tests Risk assessment Discussion of options Support The aim is to ensure optimum care for the patient and facilitate decision making in the future

6. What Else Does A Clinical Geneticist Do? Education Research

7. Exploring Views of Genetic Counselling For Cleft Lip and Palate Patients Prompted by our day to day clinical practice Recommendations say genetic referral should be offered to everyone but: Genetic counselling is more important for some patients than for others Yet another appointment to attend May provoke anxiety/guilt

8. Family 1 Family 2

9. Can we make sure that the people who might benefit from or want a genetic appointment get one, yet avoid worrying or inconveniencing those where a genetic appointment is of lower importance?

10. Plan of Study Ask patients about their needs and preferences for genetic counselling Ask members of the cleft team what they think about their own needs eg for training and how genetic appointments can best be managed Ask Clinical Geneticists for their views On the basis of the answers, design a genetic counselling service for cleft patients that can be tailored to suit everyone’s requirements and preferences

11. How Are We Finding Out Users’ Views? Telephone interviews. Can be arranged to suit everyone and no travelling involved We phone you 1-2 hrs allowed Aim to cover different ages/cleft groups Usually perceived as non-threatening Ask permission to tape phone calls Analyse everyone’s answers to look for common themes Qualitative Research

12. How are we finding out cleft team/geneticists’ views? Focus groups 5-10 people Taped and analysed like the phone calls

13. Future plans This is a pilot study on which we will base a more substantial research project focussing on education and genetic service delivery Plan to involve users in design, writing of proposal and steering committee Keen for users to take on the role of presenting research findings at meetings Users included in authorship of any papers Remuneration

14. Would You Like To Be Involved in Research? Vilka.Scott-Kitching@cmft.nhs.uk If so, contact: