1. ESRC Genomics Network (archive)
  2. Gengage
  3. The Human Genre Project

Egenis · Research

Mapping the role of medical charities in the social production of genetic knowledge: Comparative case studies of the representation of disease genetics by charities in a monogenic and a polygenic/multifactoral condition

Dawn Fox-Davies

Start date


Affiliated staff

Susan Kelly, Lenny Moss and Steve Hughes


Tel: 01392 269142 Fax: 01392 264676 Homepages: , , Lenny Moss and .Email: def203@exeter.ac.uk Building: Byrne House Room Number: FF10


After a diagnosis with a genetic disorder, the provision of additional information in relation to ‘genetic disease’ to the patient, parent or carer frequently occurs through a disease-specific charity. These organisations' services may be intended to: inform or educate to enable active participation in decision making and respond to patient concerns, thereby contributing to the understandings and conceptualisations that are developed. As part of their information provision and patient support activity, charities in this field approach knowledge production concerning the disease and treatment in a variety of ways. Consequently, they may also: participate in, fund-raise for, commission, process or distribute the findings of, scientific / medical and genetic research and the prevailing established knowledge related to their disorders, so contributing to the knowledge production process.

Using case studies in charities representing contrasting monogenic / polygenic-multifactoral conditions, this study examines them as locations of scientific knowledge co-production between patients, families, medical professionals and researchers, moving from the more usual ‘patient advocacy’ perspective documented in the literature, to focusing on a site of co-production which has not been so well addressed.


This study addresses the question of how do charities represent genetic scientific knowledge, and looks at the cases of a monogenic and a multifactoral/polygenic disease. Addressing charities as locations and agents of knowledge production in genetics, the following subsidiary questions will be considered:
  • Are there differences in the concepts and interpretations developed in relation to monogenic and multifactoral disorders?
  • What place do these understandings have in a social construction of knowledge in the area of ‘genetic disease'?
  • What are the interests of charities with respect to their role vis-a-vis research scientists, medical professionals and patients/families as genetic knowledge producers?
By investigating these questions, this study seeks:
  • to gain a situated analysis of information gathering in relation to each disease by mapping the charities' information gathering, selection and reproduction practices.
  • to understand the co-production of knowledge by: observation of, and interviews with, researchers funded by the charities and at conferences, and staff, volunteers and consultants of the charities.
  • to map the discourse and through triangulation of the primary data and synthesis of the secondary data,
    • produce findings which can inform, and contribute to, the efficacy of patient/medical professional discourse.
    • develop an understanding of charities' knowledge production practices, interests and objectives, and political contexts.


This research will explore the role of medical or health charities in scientific knowledge production in the fields of monogenic and multifactoral polygenic disorders through two ethnographic case studies using participant observation augmented by unstructured interviews. Using field notes and audio recordings, the field work, data gathering and validation will be performed recursively through:
  1. Examining the roles of the producers and disseminators of the information in relation to their audiences and the extent of the co-production of knowledge of genetic disease, through observation, informal interactions and unstructured interviews. Informed by Hammersley (1995).
  2. Observation and interviews situated in the charities and research locations.?
  3. Discourse analysis of textual materials including internet/websites based on Kress and van Leeuwen (2001), Kress (1996), Hodge and Kress (1988), for integration with the field observation data.
  4. Synthesising the data to develop maps of interaction and knowledge production/co-production drawing on Barnes (1977, 2000) and Pickering (1995).
  5. Testing the analysis by reflecting back to contributors.

Policy implications

It is expected that this research will expand the current understanding of genetic knowledge production to enhance the policy decision making of the NHS in relation to issues of patient information production and research funding.