School of Medicine

RESEARCH PROFILE

Dr Middleton’s research profile is intertwined with her clinical role as a practicing genetic counsellor.
There are a number of research interests:

• Assessing the barriers to genetic counselling service provision for deaf and hard of hearing patients
• Understanding the attitudes of deaf and hard of hearing people towards issues surrounding genetic testing for deafness
• Exploring the process of genetic counselling supervision for practicing genetic counsellors
• Understanding the communication processes within genetic counselling practice
• Evaluating the skills needed for effective transcultural genetic counselling
Working as one of the UK representatives on the European Concerted Action group on Psychosocial Issues Relating to Genetic Deafness (2002 - 2005) has offered opportunities to expand research interests in deafness and through this present and publish further work.

Dr Middleton is an invited member of the Cardiff University MSc in Genetic Counselling Advisory Board (2007 - ) and an invited member of an MRC Fellowship Advisory Panel and Department of Health Fellowship Advisory Panel for two genetic counsellors in Manchester (2006 - ). In addition to this she has acted as an external referee for Mphil and PhD Fellowships for Health and Personal Social Services R&D Office in Northern Ireland (2004 - ) and PhD NHMRC Postgraduate Research Scholarship at the Murdoch Children’s Research Institute in Melbourne, Australia (2006 - ); as well as being a UK Editorial Advisor for the Journal of Genetic Counseling (US) (1999 - ).

Dr Middleton’s current research is as a Consultant Research Genetic Counsellor/Chief and Principal Investigator for a Department of Health funded research project at Cardiff University.

SELECTED PROJECTS

Project Name: Deaf individuals’ understanding and perception of genetics and their needs from a genetic counselling service
Funder: Department of Health, Health Services Research
Duration: 1/10/05 – 31/10/09
Value: £286,601

Background/Introduction:

Deaf adults are often interested to know why they are deaf and whether this can be passed on to their children – issues routinely addressed within genetic counselling. However, very few deaf adults utilise this clinical service. There may be many complex reasons behind this – e.g lack of information, assumptions about inheritance, mistaken beliefs of a link between present-day genetics services and eugenic practices of the past in relation to deafness or fears about being told not to have children. This project aims to gather the views of deaf people with respect to their beliefs about inheritance, flow of information through families and communication of genetic risk. The study will also assess what barriers appear to be preventing access to genetic counselling. The project aims to offer information to help design a genetic counselling service that is applicable, relevant and sensitive for deaf people and their families. Deafness is a relatively common genetic condition, and the findings from this work may offer a model that is applicable to other genetic conditions where referral rates to genetic counselling are also low.

Collaborators:

Prof Angus Clarke (Professor of Medical Genetics, Cardiff University)
Prof Graham Turner (Chair of Translation Studies at Heriot-Watt University, Edinburgh)
Dr Maria Bitner (Academic Head of the Clinical and Molecular Genetics Unit, Institute of Child Health, London)
Dr Steve Emery (Research Associate, Heriot-Watt University, Edinburgh)

Steering Group:

Prof Srikant Sarangi (Professor in Language and Communication, Health Communication and Language Centre, Cardiff University
Prof Martin Richards (Retired Director of the Centre for Family Research, Cambridge University)
Susan Daniels (Chief Executive of the National Deaf Children’s Society)
Paul Redfern (Director of the Richmond Advice and Information on Disability Service)
Prof Dai Stephens (Retired Professor of the Welsh Hearing Institute)

Aims:

Structured Questionnaire (mainly quantitative data)
• To explore and analyse the experience of deaf people in relation to genetics issues (e.g to assess perception and understanding of genetic risk and genetic counselling).
• To find out whether deaf people would be interested in the questions that genetic counselling services can answer, such as is my deafness genetic? What is the chance of passing deafness on to children?
• To document the numbers of deaf people interested in genetic counselling but not currently accessing it and to understand why.
Semi-Structured Interview (qualitative data)

• To understand more about the fear of genetic technology including the historical and personal context to this.
• To explore further the reasons why deaf participants do not access genetic counselling.
• To explore the experience of those who have had genetic counselling.
• To explore the use of genetic terminology in signed language and the understanding behind this.
• To explore the communication of genetics issues within the family, e.g. by looking at explanations of deafness inheritance and expectations related to this (including hopes about having deaf or hearing children and reasoning behind this), flow of information through the family and communication of genetic risk.
Produce Practical Outcomes

• To use the above data to make an evaluation of how genetic counselling services should be delivered to deaf people and to understand and offer solutions to the barriers to effective service provision.
• To provide an evidence base for a model that may be applicable to other genetic conditions.

Keywords:

Deafness, genetics, Deaf culture, quantitative, questionnaire, qualitative, interview, genetic counselling