Affiliated staffSusan Kelly and Hannah Farrimond (Egenis), and Peter Turnpenny (clinical genetics, RD&E Hospital Exeter)
ContactTel: 01392 269140Fax: 01392 264676Homepages: , , , and Peter Turnpenny Email: firstname.lastname@example.org Building: Byrne HouseRoom Number: GF16
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.
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
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)
- 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 implicationsBy 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.