Patient Experience with Genetic Testing in ADPKD

Background: Genetic testing for diagnosis in autosomal dominant polycystic kidney disease (ADPKD) has become more common since the development of panel tests including PKD1 and PKD2 and related cystic genes. We sought to explore attitudes about genetic testing among individuals with ADPKD. Methods: We generated a web-based Qualtrics survey comprising 23 questions and incorporating a validated survey about public attitudes toward genetic testing (Henneman PMID 16792518). The survey was pilot-tested by volunteers from our clinical center. The survey was distributed to 16,773 individuals with PKD above the age of 18 through the PKD Foundation e-mail listserv. Results: 226 individuals responded. 70% were female and 88% were White / Caucasian. 127 out of 201 individuals answered “No, never discussed” to the question, “has the possibility of getting a genetic test to detect a PKD variant (mutation or abnormality) been discussed with you by a doctor or healthcare provider?" Out of 113 individuals who did undergo genetic testing, 54 were unable to remember their results. 39 out of 94 individuals reported that the results “did not change anything” about their feelings about their kidney disease, while 10 felt more "optimistic / positive," 14 felt more "pessimistic / negative," and 31 were "not sure." The range of feelings expressed are shown in Figure 1. Conclusion: Many individuals with ADPKD have not participated in discussions about genetic testing with healthcare providers. Among individuals who have undergone testing, the majority do not recall their results. Most individuals with testing felt that the tests did not change their feelings, while many were unsure. A wide range of feelings associated with testing were reported. Given the growing role of genetic knowledge in ADPKD, further work is needed to ensure patients are educated about genetic testing and its potential implications for management, and to include patients of all backgrounds in studies investigating this evolving area. This is an investigator sponsored study which was funded by Otsuka Pharmaceutical Development and Commercialization, Inc. Funding: Commercial Support - Otsuka Pharmaceutical Development and Commercialization, Inc.