Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study.

Abstract

Background: The Hong Kong Genome Project (HKGP) is the first population-wide whole genome sequencing (WGS) programme in Hong Kong and aimed to integrate genomic medicine into the healthcare system. Implementing genetic counselling is essential to help participants understand the genetic basis of diseases and guide informed decision making. We assessed participant experiences during the initial HKGP pilot phase that enrolled patients with undiagnosed diseases and hereditary cancers.

Methods: Participants were recruited from three partnering centres at public hospitals during June-September 2023. Participant surveys covered four domains: (1) overall satisfaction, (2) informed consent process, (3) genetic counselling, and (4) attitude towards HKGP. Associations with demographic and socioeconomic characteristics were assessed with multivariable logistic regression. Qualitative feedback was collected in focus group interviews.

Results: Among 422 eligible participants, 341 completed the survey (80.8% response) and five focus group interviews were held (21 participants). We found 89.8% [95% CI: 86.1-92.7] were satisfied with their HKGP experience. Almost all felt that HKGP participation could benefit others (86.8% [95% CI: 82.7-90.0]) and advance genomic research in Hong Kong (88.9% [95% CI: 85.0-91.9]). The survey item with the lowest agreement among respondents was feeling that HKGP participation could improve their/child's medical treatment (73.5% [95% CI: 68.5-78.0]). Those with secondary and tertiary education were less likely to agree genetic counselling was helpful (Odds Ratio [OR]: 0.02 [95% CI: 0.001-0.41]; 0.02 [0.001-0.51]), or the appropriate length of time (OR: 0.12 [95% CI: 0.014-0.81]; 0.11 [0.01-0.91]). Focus group participants cited helping scientific advances and shortening the diagnostic odyssey of future patients as key reasons for participation. Participants hoped for a shorter reporting time of WGS results, additional medical follow-up, and allowing referral of relatives.

Conclusions: Participants were overall highly satisfied with the HKGP and genetic counselling experience. Satisfaction levels were comparable to overseas genomic programmes and locally provided healthcare services. Participants' major concerns on WGS reporting time could be addressed by strengthening the informed consent process to ensure their expectations align with project implementation. Emphasizing the long-term value of genomic research and its potential for personalized treatments may increase participant engagement.