Table 2 Domain 2 representative quotes.
From: “It’s a Godsend”: Parental experiences of genomic testing for paediatric inborn errors of immunity
Theme/subtheme | Representative quote |
|---|---|
The value of mainstreamed genomic testing | |
Grateful for timely genomic testing | “Fantastic. It’s a godsend [mainstreamed genomic testing] … I don’t think…we’d be where we are now without that being offered to us, without that clarity and treatment and all being provided.” (Father of Jack, 1 year old, diagnostic result) “I think it’s [mainstreamed genomic testing] great, I think it’s wonderful that we live in this day and age that it can be done, and I think that it’s really helpful in certain situations” (Mother of Samuel, 8-months-old, non-diagnostic result) |
Diagnostic results are empowering | “… in the future when we do want to have more children, we can do what we can to prevent those future children from having the same genetic condition (Mother of Anthony, 3 months old, diagnostic result) “…very positive, uplifting impact. Really fantastic…I think by the time we had received that diagnosis, that, you know, “Hey, this is curative in nature” (Father of Jack, 1 year old, diagnostic result) |
Diverse reactions to non-diagnostic results | “We didn’t get any answers, c’est la vie. It didn’t faze me. If we got it I would have been of the same opinion.” (Mother of Joe, 16 years old, non-diagnostic result) “In one way it’s a little bit frustrating it’s like I just want this to be finished, I want answers.” (Mother of Lily, 8 years old, non-diagnostic result) “Oh, it was a relief. I mean it was a relief that it was certainly a relief that there was no genetic cause” (Mother of Meg, 12 year old, non-diagnostic result) |
Multidisciplinary teams are key to successful mainstreaming | |
Trust and faith in medical team | “All the doctors in his team now have been a part of this team since he was three years old. Yeah amazing, amazing, amazing team doctors here in Queensland”. (Mother of Joe, 16 years old, non-diagnostic result) “…We found it easy to trust them [medical team]…We continuously would say that to [Frances] over and over, we trust the doctor, we trust them…. I guess, the openness, not just the benefits of what’s going to happen, but being told what might go wrong …not just, putting rose-coloured glasses on us to see it’s all going to be OK…We knew what we were getting ourselves into [consenting for genomic testing].” (Mother of Frances, 11 years old, diagnostic result) |
Genetic counsellor as an added bonus | “It was pretty mysterious going into it, like, really a genetic counsellor, why do I need this? …I Googled it, ‘what kind of questions should I ask a genetics counsellor?’ Because somebody had impressed upon me the importance. I knew it was important, but didn’t really know what it was all about.” (Mother of Bonnie, 8-months-old, diagnostic result) “My advice is any kind of genetic testing on children and especially small children the genetic counselling should come before the genetic testing” (Mother of Joe, 16 years old, non-diagnostic result) “It’s a very different type of counselling [genetic counselling] …to what’s provided by the social worker…because of where family is in their journey…. I think around the ‘now-ish’ time is probably not such a bad time for [genetic counsellor] to have another session” (Father of Max, 3 years old, diagnostic result) |
Genomic testing decision making: why, when and how | |
Easy decision | “The genetic testing to us was just a given. Like we were never going the question that it wasn’t going to hurt anyone…” (Mother of Frances, 11 years old, diagnostic result) “…it wasn’t like it was a high-pressure thing [consenting to genomic testing], every other decision that we made with [child] was far more stressful and pressured…. it wasn’t a traumatizing experience.” (Mother of Samuel, 8=months-old, non-diagnostic result) “I get that there’s all these ethical dilemmas… but to me it was a very easy decision [consenting to genomic testing] …. It’s much better to make an informed decision than not….thank you for doing all your due diligence and showing me the paperwork, but yes, I’m going to do that.” (Father of Henry, 1 year old, diagnostic result) |
Complexities with genomic testing decisions | “I think my biggest concern at the time was we were taking that choice away from [Bonnie]. Obviously, them being so young, they don’t have that voice to say, ‘actually, I don’t want to find out’. And it was just taking that, making that decision for them. I think I was a bit uneasy about.” (Mother of Bonnie, 8-months-old, diagnostic result) “I do remember now that we spoke to a genetic counsellor, and I guess tried to understand what the potential implications in the future with insurance are, with life insurance, travel insurance of these type of things” (Father of Thoe, 6 years old, non-diagnostic result) |
A time and a place | “At the time of the appointments…it was very overwhelming. I had a lot of the questions that I didn’t get answered at the time or things like that because it was so much to take in all at once it was… being by myself at that stage as well, it was a lot to process at the time…” (Mother of Lily, 8 years old, non-diagnostic result) “you’re in and out of hospital … And there’s only so much information that any person can take on and really, truly understand” (Mother of Frances 11 years old, diagnostic result) “I don’t specifically remember consenting to the genetic testing because it kind of got lost in amongst all these other research studies that we were being given” (Mother of Indiana, 4-month-old, diagnostic result) |
