Understanding responses to predictive genetic testing: A grounded theory approach

Abstract

In view of the absence of data concerning the understanding and experience of families in which one or more members have undergone predictive genetic testing, a pilot study using a qualitative methodology was conducted with members of families at risk for the late-onset genetic disease, familial adenomatous polyposis (FAP). Semistructured interviews were conducted to elicit illness representations, with responses tape-recorded and analysed using a grounded theory approach. Several themes emerged. The most striking was that when genetic testing indicated an extremely low risk of developing the disease, there was a desire to continue regular bowel screening, even though it was experienced as extremely aversive. Possible explanations draw upon both other themes of the interviews, and psychological models. The role of “functional pessimism” and “uncertain wellness” in maintaining a high threat from the disease, and the role of reinforcement and the nature of tests in providing bowel screening with a high value are discussed.