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

Egenis · Research

Familial Meanings of Neurofibromatosis Type 1 (NF1)

Daniele Carrieri

Start date

2007-10-01

Affiliated staff

Susan Kelly and Hannah Farrimond (Egenis), and Peter Turnpenny (clinical genetics, RD&E Hospital Exeter)

Contact

Tel: 01392 269140Fax: 01392 264676Homepages: , , , and Peter Turnpenny Email: dc233@exeter.ac.uk Building: Byrne HouseRoom Number: GF16

Background

Neurofibromatosis Type 1 (NF1) is a common, dominantly inherited disorder (births incidence: 1/3000) with a high spontaneous mutation rate. Physical features, cognitive symptomatology and complications such as malignancy are highly variable, both within and between families and over the lifetime of affected individuals.

Aims

This sociological study investigates:

  • the psychosocial implications of genetic knowledge and technologies for individuals with NF1 and their families
  • the interrelation of individual and familial experiences of disease
  • the role played by the health care system in individual and familial experiences and understandings of NF1

Methods

Semi-structured interviews with:

  • Individuals with NF1 and their family networks (n=30)
  • Health care professionals who work with NF1 (medical staff, genetic consultants, NF1 advisors) (n=10)

Analysis:

  • Grounded theory and narrative analysis inspired methods

This study has been approved by the HuSS Research Ethics Committee of the University of Exeter and the NHS LREC.

Policy implications

By examining how familial narratives of illness, responsibility and uncertainty shape individual experiences of self, disease and genetic knowledge, this study will contribute to the academic literature on the construction of genetic disorders, lay understandings of risk, genetics and heritability, and attitudes towards genetic technologies. The policy relevance of this research is high, and recommendations will be made for clinical practice within the NHS relating to NF1 and other genetic conditions.