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