Mapping Genetic Knowledge: An Anthropological Study

Heath, Deborah A.
Lewis and Clark College
Portland, Oregon
Grant # R01 HG01582
Grant period: 05/01/97 - 04/30/00
Grant amount: $269,059
Implication: Social SSO

This is a comparative anthropological analysis of the social networks associated with three groups of heritable connective tissue disorders: Marfan syndrome, epidermolysis bullosa and chondrodysplasias. Using participant observation and interviews, the study will investigate the production and circulation of genetic knowledge among three interrelated constituencies:

  1. laboratory researchers
  2. clinicians
  3. lay support groups.
The project aims to identify and describe institutions, events, and practices that facilitate or impede knowledge transfer among members of these groups. The project will also examine contrasts in
  1. phenotypes and phenotypic variability
  2. pathogenesis
  3. emerging approaches to diagnosis and therapy for each of these disease groups, first, as they are clinically and scientifically defined, and then, as they influence the social experiences and identity formation of affected individuals.
This study will encourage and facilitate public education through documenting achievements in, and illustrating barriers to, the effective dissemination of new genetic knowledge. Finally, the project will train a new group of anthropologists to conduct future multi-site fieldwork on genetics and its social contexts.

Publications from this grant.




Original Abstract
DESCRIPTION (Adapted from the Investigator's Abstract): The proposed project is a comparative anthropological analysis of the social networks associated with four groups of heritable connective tissue disorders:
  1. Marfan syndrome
  2. chondrodysplasia
  3. osteogenesis imperfecta
  4. epidermolysis bullosa.
Using anthropological methods of participant observation and interviews, the study will investigate the production and circulation of genetic knowledge among three interrelated constituencies:
  1. laboratory researchers
  2. clinicians
  3. lay support groups.
The project aims to identify and describe institutions, events, and practices that facilitate or impede knowledge transfer among members of these groups. The investigators will look, first at the daily practices and perspectives distinctive to each group, and second, at collaborations, and at events such as scientific workshops or national support group meetings that bring members of different constituencies together. The project will also examine contrasts in
  1. phenotypes and phenotypic variability
  2. pathogenesis;
  3. emerging approaches to diagnosis and therapy for each of these disease groups, first, as they are clinically and scientifically defined, and then, as they influence the social experiences and identify formation of affected individuals.
This study will encourage and facilitate public education through documenting achievements in, and illustrating barriers to, the effective dissemination of new genetic knowledge. Finally, the project will train a new group of anthropologists to conduct future multi-site fieldwork on genetics and its social contexts.