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Chu et al. J Transl Genet Genom 2023;7:66-78 https://dx.doi.org/10.20517/jtgg.2023.01 Page 58

and families are willing to participate in genomic research for “the greater good” despite a lack of immediate
direct personal benefit; this sentiment was a common theme from the present thematic analysis.

“Perhaps there is not much help for my son, but I believe eventually one day, it will benefit many children, I
mean our next, next, next generations”. (mother of rare disease patient P5)

“I think since my kid is affected already, why don’t we contribute to the society or the world? I believe it (WGS
testing) has its purpose. Well, let me tell you frankly, at this moment, even if a pharmaceutical company could
identify a drug for my daughter, it must go through phase 1, phase 2, phase 3 trials, you can foresee that. My
daughter is a grown-up now, the reason for us to advocate that much is obviously not simply for my daughter.
I hope that there is something we can do to contribute to the world”. (father of rare disease patient P3)

“Well, if I contribute my DNA for (WGS) sequence, or my body tissues (samples), I hope that I will be able to
help other people in the future, and I believe all patients are willing to do so”. (hereditary cancer patient P10)

Echoing the “greater good” narrative, the emphasis on participants’ contributions to research in the local
setting supports previous research evidence in this area, highlighting participants’ altruistic
motivations [9,11,12,14] . Our focus group participants emphasized the importance of establishing a local clinical
genomic database for personalized medicine and disease risk prevention. By establishing a flexible platform
with a rich database for genomic technologies and multi-omics studies, and promoting disease-focused
research networks in local and international settings, genomic sequencing is anticipated to facilitate
genomic science and discoveries.

“Well, if you ask me, we should have done this much earlier… as WGS helps society a lot, this is a very effective
tool… currently if you send the patient to a hospital to look for the underlying reason, many of the times the
doctors will not be able to give you an answer, because they have no tools. But if you set up this genomic
database, the doctors will have the platform, then at least he will be able to investigate what is going on with
the patient. This also saves a lot of societal resources”. (father of rare disease patient P3)

“I think that it is always good to have one more set of data, if everyone refuses to join, if you are not willing to
accept it, then we will never be able to contribute to scientific advancement”. (patient with undiagnosed
disease P1)

“I support my mother to undergo testing as it didn’t only give her an answer (why cancer was running in her
family), but it could also help the Chinese population and the world to understand this syndrome better”. (son
of a female patient with hereditary breast and ovarian cancer syndrome P11)

On the other hand, local healthcare professionals in Hong Kong underscored the clinical benefits of
genomic sequencing for patients, especially the importance of a genetic diagnosis for ending the long
diagnostic journey. Above all, clinical geneticists accentuated the importance of big data through genome
projects to “discover treasure” for medical development in the long run, reducing uncertainties during the
diagnostic process.

“Our initial intention as doctors is to diagnose. (…) At least most of the patients and families feel relieved
when there is a genetic diagnosis (…) I guess most of them would like to know what condition they are
suffering from because some of them lived with it for over 30 years without knowing what it is”. (clinical
geneticist P18)