Table 4 Key extracted quotes from focus group interview

Reasons for participating in HKGP

“I think it could help the scientific community… and especially patients in the future.” (P, Group 3)

“I want to give birth to another child, I think a comprehensive test like this (HKGP) would be useful…The results would definitely help me in family planning decisions… A lot of current prenatal tests have limitations in conditions that could be screened” (S, Group 4)

“I participate to help you (researchers). I have had my blood taken for more than 10 years because of my condition…Providing one more sample for you wouldn’t do me harm.” (W, Group 5)

“I want to know if my family has the same defective gene…I also want to inform the medical community of my situation and treatment options…But I don’t think there was much personal takeaway involved” (K, Group 2)

“I want to how would my child’s gene influence his development as he grow up…and whether he will pass on the genetic risks to his own children” (H, Group 2)

Shortening diagnostic odyssey for patients

“The turnaround time was too long, I don’t think the results would be useful to guiding my daughter’s treatment options.” (P, Group 3)

“We are already aware of the diagnosis when our second child was born, but it would be nice to have a genetic test result just for our reference… and how it may mutate in the future” (R, Group 4)

“My daughter was diagnosed with type II diabetes more than 20 years ago…but one to two years ago, she was informed that the diagnosis should be type I diabetes…We want to know why and what happened” (V, Group 5)

Comments on overall experience in HKGP

“The genetic counsellors used pedigree chart to explain results (dominant and recessive traits). It was not too difficult to understand for me and my daughter…but I don’t think it needs to be that in-depth…I just want to get the diagnostic results as swiftly as possible” (P, Group 3)

“I think the pedigree chart from the genetic counsellor was…too complicated. I don’t remember…how my husband and I’s gene…result in my daughter’s condition.” (V, Group 5)

“The blood collection process was quick… I think we need to wait for an hour for other conventional blood draws…but I don’t have to wait for the long queue.” (B, Group 1)

“I have two children…the younger one was recruited into the project. I asked the genetic counsellors if it was possible to enrol my elder child to the project…he could have carried the recessive gene as well, right?” (E, Group 1)

“I think the results should be posted on eHealth…When I visit private hospitals, they may want to know what were the previous tests conducted in public hospitals” (S, Group 4)

“The medical professionals should share more details about the project…we can help with spreading the information to others…but for now apart from knowing more about genetics of disease, I don’t know much about other aspects of the project” (F, Group 1)

“I was filling in my personal information form in a crowded waiting area…There was insufficient space…Some questions asked were rather private, I wish I could fill it in a more spacious area so my privacy is protected.” (V, Group 5)

Reasons not to conduct genetic tests earlier in other settings

“I think it could be quite costly… I do not think that anyone would go check their gene to understand their risk of disease when their condition is not severe…… I just wanted to know whether my child is a carrier for the disease and be a part of your research project, but I would not want to understand more about my genome had it not been this project.” (E, Group 1)

“It’s mainly about the cost…also I don’t think there was any medications or procedures that could help with my child’s conditions… We rely on public services…and will comply with tests arranged by medical professionals” (S, Group 4)

Conflicting experiences

“It was quite a long procedure… It would be better if they (medical professionals) have told me in advance that the whole procedure (enrolment to study, genetic counselling, blood taking) could take up to two hours” (H, Group 2)

“The whole process took 10–15 minutes…It was quite swift…I recall ticking a lot of boxes and I finished the (medical history) form quickly” (W, Group 5)

“I wasn’t happy with the blood taking procedure…That day (enrolment to study) I saw two other parents who had to take leave to provide their blood sample…They were visibly impatient waiting for such a long time.” (P, Group 3)

“The blood collection process was quick… I think we need to wait for an hour for other conventional blood draws…but I don’t have to wait for the long queue.” (B, Group 1)

“I was in [one of the partnering centres]. The introduction video [on HKGP] was too quick…I had to watch it on my own phone but I couldn’t finish it before see the counsellor… I wish the video could be played on a television. (B, Group 1)

“The genetic counsellor in [one of the partnering centres] played the video on their tablet computer.” (C, Group 1)