Translating advances in cardiogenetics into effective clinical practice

In this article we describe a qualitative research study in which we explored individuals' subjective experiences of both genetic testing and cardiogenetic disorders. Using a grounded theory approach, we coded and analyzed interview and focus group transcripts from 50 participants. We found that just under half of the participants who received their diagnosis during the study reported difficulty understanding information about both the purpose of genetic testing and their cardiac disease. A high level of anxiety about genetic testing and cardiac symptoms exacerbated individuals' cognitive confusion. Participants reported both positive and negative interactions with the medical community, depending on health care professionals' knowledge of cardiogenetic disorders. Overall, participants expressed a range of attitudes - positive, negative, and ambivalent - toward genetic testing. We conclude with a discussion of the barriers to achieving effective clinical care for genetic conditions and offer suggestions for improving collaborative decision making between physicians and patients.