Page 65 - Read Online

Page 59 Chu et al. J Transl Genet Genom 2023;7:66-78 https://dx.doi.org/10.20517/jtgg.2023.01

“Even when there is no cure, it is important to have a diagnosis. (…) in many of our adult patients, the
diagnosis actually helped to avoid unnecessary investigations and follow-ups, which is beneficial, I believe, to
both the general public and health system in terms of saving resources”. (medical specialist P16)

Concerns and worries: personal, familial, and societal concerns
Despite having positive attitudes toward genomic sequencing, participants also expressed ambivalence
about genome projects and the translation of genomics into routine clinical practice. Resembling studies
conducted in the United Kingdom (UK), the United States, and Canada, patients and families in Hong
Kong are concerned about potential psychological distress in themselves and their family members [9,10,12,14] .

“If I went to test when I was 18 and found out that I’ve got a disease that will present when I am in my 40s,
what am I going to do in the upcoming 30 years?” (son of hereditary cancer patient P11)

“To be honest, I think it doesn’t really matter if it is just for myself because you agreed and gave consent, and
you wanted to know the answer. But at the end, my family did the test too. So what did the test bring them
into? Well… my mum was very worried. As in, she might have been okay initially, but what if you found
something wrong? What should we do? No one could answer us this question”. (undiagnosed disease patient
P8)

“Let’s say if I did WGS at 20 years old and found out that I have many problems, so in my future life, I may
need to make decisions such as whether to get married and have kids. It feels like I am carrying bombs around.
How can I get through it? This is something I am very worried about”. (hereditary cancer patient P10)

Concerns and skepticism regarding data privacy and data-sharing related to genomic research and genome
projects were introduced by focus group participants [2,9,10,12,14-16] .

“How would I know who is in charge of this genomic research project? And I would think whether that person
would collect our genetic data for personal use or to conduct another research study? Like, I don’t know. Is
there a way I will be notified when someone accesses my data? Such as having an alert on my phone?” (mother
of rare disease patient P6)

“When I first heard about this (project), that we are building a genomic database, a genomic database for the
Hong Kong population, my first thought was about data privacy issues”. (hereditary cancer patient P10)

All the clinicians interviewed emphasized the importance of making the process as “transparent” and “fully
informed” as possible to tackle concerns regarding data privacy and enhance public trust. Importantly,
clinical geneticists shared their experiences and thoughts on highlighting patients’ rights in the informed
consent process, especially regarding data confidentiality and project withdrawal.

“You have to be transparent; otherwise, people will not understand what you are trying to do in your project. If
you hide the data, and if the participants are not able to find answers from the project’s website, then people
will start to make guesses”. (clinical geneticist P15)

“I think the biggest concern among patients and families is how are they protected. That’s their genomic data;
of course, they would like to know how they are protected. So if that paragraph (paragraph on patients’ rights
in the information booklet) includes more information in this area, with the details clearly written, then they
will have less things to be worried about”. (clinical geneticist P14)