The lived experiences of families and individuals affected by haemophilia in relation to the availability of genetic testing services

Ill health may be related to a combination of genetic and environmental factors. Haemophilia, a rare congenital bleeding disorder, predominantly affects males and females may be identified as carriers. Genetic testing is available for individuals and family members who are interested to know their predisposition to the condition Thirty-nine members of a cohesive haemophilia community in Victoria, Australia, were interviewed about their attitudes towards genetic testing. The transcripts were analysed using thematic and narrative analysis techniques. The themes reflected the meanings people attached both to the disease itself and to the use of genetic testing to detect it. Narrative analysis was then employed to investigate these patterns of meaning further. We identified three typical narratives models within this haemophilia community: those of a male with haemophilia, of a female carrier and of a female non-obligate carrier (female without a familial predisposition to haemophilia). Close examination revealed a distinct pattern where aspects of the narratives tended to ʻclusterʼ according to thematic categories. While people in the haemophilia community are broadly in favour of genetic testing and genetic counselling, males with haemophilia have concerns that arise in relation to biological data banks, female carriers are cautious about antenatal testing and support greater communication of risk within families, and female non-obligate carriers are specially concerned about the safety of obstetric practices. The pattern of responses we have identified indicates that, despite the proliferation of issues and themes across the narratives, the number of possible personal narratives in which they are embedded is in fact quite limited. In this sense narrative analysis offers a supplementary dimension to thematic analysis in the elucidation of qualitative data.