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Page 57 Chu et al. J Transl Genet Genom 2023;7:66-78 https://dx.doi.org/10.20517/jtgg.2023.01

meetings were analyzed following the principles of qualitative analysis by Clarke et al. and were in
[7,8]
alignment with the six phases of thematic analysis by Nowell et al. .
Initially, the familiarization step was achieved by reviewing the transcripts to form the initial coding
framework, which was structured according to the Semi-Guided Question List. Coding was guided by
inductive reasoning. Additional themes and subcodes were identified and added to the initial coding
framework. Inductive reasoning relies on assessing the allocation of coded words, phrases, and paragraphs
to the top‐level codes and subcodes. The data within each theme were then continuously analyzed to
identify variations and stop until thematic patterns saturated. ATWC and CCYC performed coding.
Discrepancies were discussed between ATWC, CCYC, and BHYC, and disagreements were resolved by
consensus.

RESULTS
Twenty participants were recruited to participate in the three focus group meetings, including eight
undiagnosed and rare disease patients or their family members (40%), five hereditary cancer patients or
their family members (25%), and seven healthcare professionals (35%). A range of rare and undiagnosed
diseases and hereditary cancers were covered, including Costello syndrome, Alstrom syndrome, Angelman
syndrome, Rett syndrome, undiagnosed disease, hereditary breast and ovarian cancer, and rare brain
cancer. Gender and age were reasonably well balanced among the groups, with eight male (40%) and
12 female (60%) participants. Among the 15 participants who reported age at recruitment, the mean age was
41.2 years, ranging from 18 to 56.

Four major themes were derived from thematic analysis: “decisional considerations of undertaking genetic
testing: perceived benefits and motivators”, “concerns and worries: personal, familial, and societal
concerns”, “a quest for a patient-oriented, transparent, and decommercialized WGS campaign”, and
“communicating genomics efficaciously: the importance of informational support and literacy
enhancement”. Selected quotes based on these four themes are summarized in Supplementary Table 1.

Decisional considerations of undertaking genetic testing: perceived benefits and motivators
Integration of genomics into medicine raises ethical and psychosocial challenges. These include public
acceptance and decisional considerations. Several qualitative studies from Western countries have shed light
on the perspectives and attitudes of parents and patients with rare diseases toward genomic sequencing,
highlighting common motivational factors; these include the desire for a diagnosis and potential treatment
implications [9-12] . Resembling their Caucasian counterparts, the possibility of genetic testing in confirming
personal diagnoses and informing clinical management is also a significant motivator introduced by Hong
Kong Chinese patients and families with undiagnosed and rare diseases and hereditary cancer.

Focus group participants (patients and their family members) felt that their decision to undertake genetic
testing was affected mainly by “whether the genetic diagnosis would impact clinical management” (son of
hereditary cancer patient P11). According to their personal and family experiences in going through genetic
counseling and testing process, such attempts made them feel relieved after receiving the genetic diagnosis,
as it has allowed them to “explore about the disease prognosis and plan for the next steps in life” (father of
rare disease patient P2).

[13]
Long diagnostic journeys often plague patients with rare diseases and hereditary cancers . WGS is often
offered as a last resort to obtain a diagnosis; this process has substantial potential to impact clinical
management, although benefits are often challenging to achieve in the short term. Nevertheless, patients