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

Is blood thicker than water? A study into the social and ethical dimensions of genetic testing in the haemophilia community

This thesis sought to examine the ethical and social dimensions of genetic testing in the haemophilia community. The haemophilias are a cluster of bleeding disorders that are inherited in an X-linked manner, meaning men are predominantly affected and women can sometimes be identified as carriers. It is caused by deficient or dysfunctional clotting factor proteins in the blood. Clotting factor therapies have been developed to address the illness. Genes are the biological units that constitute all living things, and they are responsible for creating diversity among and across populations and species. However, deleterious errors (mutations) can occur in genes that later become inherited within families. Therefore, genetic testing is used to identify gene mutations that cause disease, in order to communicate risk to families. Leading up to genetic testing individuals and families are referred to genetic counselling. Genetic counselling is a health care service that provides informational resources for people negotiating decisions about genetic testing. Employing a qualitative research framework based on grounded theory and hermeneutics, I was interested to learn how patients and families living with haemophilia negotiate decisions about genetic testing. Hermeneutics seeks to interpret texts, and grounded theory is concerned with generating theory based on data. I wanted to explore the scope and depth of individual experiences of, attitudes towards, and overall outcome of genetic health services - including genetic counselling and genetic testing. To do this I analysed four time points of interest. The results showed that genetic testing for members of the haemophilia community is a widely - but not universally - accepted clinical intervention for individuals negotiating decisions about genetic testing for the purpose of reproduction and carrier testing. Contact with genetic counselling was a positive experience for women in families with haemophilia. It provided an opportunity to share risk information, and learn about prenatal diagnosis. However, results also revealed some significant limitations of genetic counselling. Although participants who had genetic counselling were often satisfied with their experiences, counselling rarely contributed to an individual’s knowledge of the disease or impacted on their decision about the implications of genetic testing; it frequently provided no more than instructions on how to undertake genetic testing. The results also demonstrate that the individual beliefs contributing towards decision-making are complex and multifaceted. Ironically, the cohesive interactions in the family and community discourage individuals seeking to navigate genetic testing resources. This is in part owing to the belief that haemophilia is manageable and that genetic testing would compromise this supposition. A possible solution is to integrate genetic health services into already established and familiar haemophilia services. Therefore, the focus of genetic counselling is on facilitating decision-making as part of a holistic care program for patients and their families seeking information about family planning

Is blood thicker than water? A study into the social and ethical dimensions of genetic testing in the haemophilia community

This thesis sought to examine the ethical and social dimensions of genetic testing in the haemophilia community. The haemophilias are a cluster of bleeding disorders that are inherited in an X-linked manner, meaning men are predominantly affected and women can sometimes be identified as carriers. It is caused by deficient or dysfunctional clotting factor proteins in the blood. Clotting factor therapies have been developed to address the illness. Genes are the biological units that constitute all living things, and they are responsible for creating diversity among and across populations and species. However, deleterious errors (mutations) can occur in genes that later become inherited within families. Therefore, genetic testing is used to identify gene mutations that cause disease, in order to communicate risk to families. Leading up to genetic testing individuals and families are referred to genetic counselling. Genetic counselling is a health care service that provides informational resources for people negotiating decisions about genetic testing. Employing a qualitative research framework based on grounded theory and hermeneutics, I was interested to learn how patients and families living with haemophilia negotiate decisions about genetic testing. Hermeneutics seeks to interpret texts, and grounded theory is concerned with generating theory based on data. I wanted to explore the scope and depth of individual experiences of, attitudes towards, and overall outcome of genetic health services - including genetic counselling and genetic testing. To do this I analysed four time points of interest. The results showed that genetic testing for members of the haemophilia community is a widely - but not universally - accepted clinical intervention for individuals negotiating decisions about genetic testing for the purpose of reproduction and carrier testing. Contact with genetic counselling was a positive experience for women in families with haemophilia. It provided an opportunity to share risk information, and learn about prenatal diagnosis. However, results also revealed some significant limitations of genetic counselling. Although participants who had genetic counselling were often satisfied with their experiences, counselling rarely contributed to an individual’s knowledge of the disease or impacted on their decision about the implications of genetic testing; it frequently provided no more than instructions on how to undertake genetic testing. The results also demonstrate that the individual beliefs contributing towards decision-making are complex and multifaceted. Ironically, the cohesive interactions in the family and community discourage individuals seeking to navigate genetic testing resources. This is in part owing to the belief that haemophilia is manageable and that genetic testing would compromise this supposition. A possible solution is to integrate genetic health services into already established and familiar haemophilia services. Therefore, the focus of genetic counselling is on facilitating decision-making as part of a holistic care program for patients and their families seeking information about family planning