It's what's expected: genetic testing for inherited conditions, CHERE Discussion Paper No 46

The development of new genetic technology brings with it responsibility for evaluating the effectiveness and efficiency of testing programs, including gaining an understanding of the value of information. This study examined the factors individuals took into account when making decisions about having a genetic test for Tay Sachs Disease. Fifteen people participated in an in-depth interview as they attended a clinic for genetic testing. A thematic analysis of the data was undertaken. Participants were most influenced to have testing by personal factors: e.g. ethnic background and desire to have children. Disease characteristics were also important. The results informed the development of a Stated Preference Discrete Choice (SPDCM) experiment. Participants were motivated to have testing by a need for reassurance and certainty. Thus, information was an important outcome for them. The results of the SPDCM experiment indicate that participants valued information positively thus providing support for the findings of the qualitative research.