Getting Involved in Research: Genetic Counselling

Jill Clayton-Smith

Central Manchester University Hospitals Foundation Trust

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

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

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”

What Is Genetic Counselling?A two-way discussion where a doctor/genetic counsellorprovides 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 patientand facilitate decision making in the future

What Else Does A Clinical Geneticist Do?

• Education

• Research

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

Family 1 Family 2

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?

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

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

How are we finding out cleft team/geneticists’ views?

• Focus groups

• 5-10 people

• Taped and analysed like the phone calls

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

Would You Like To Be Involved in Research?

Vilka.Scott-Kitching@cmft.nhs.uk

If so, contact: