Table 3.

Parents’ service experiences and needs mapped to adapted Picker principles.

Adapted Picker Principles	Sub-domains		Exemplars
Clear information, communication, & support for managing child’s ongoing care	Knowledge & understanding	Perceptions and understanding of information communicated throughout the patient journey [31, 37–39, 44, 47–52, 56, 57]	“I’m just an ordinary mom. (The doctor) levelled with me. He explained to me things step by step, the simplest way, so I would be able to understand things. So that’s very important. This is not our daily language” [44] “We were lost a little bit…We just smiled and went through it…It felt like we were listening to someone speak in another language” [39]
	Affective	Cognitive overload experienced throughout the patient journey, particularly at results disclosure [32, 34–36, 42, 46–50, 53, 57, 58]	“What are your questions, what are your questions? And we didn’t have any … on the day I was feeling a little bit, not shell-shocked or numb, that’s too extreme…. I was processing it… what would have been handy would have been if we’d had a follow-up appointment in maybe a month… It would have given us time to …digest … then go back with informed questions.” [50]
		Impact of the way in which information was communicated on parents’ affective responses [40, 42, 47, 50, 52, 55, 57]	“When any child is diagnosed with any kind of disorder or syndrome health care providers need to understand that at that moment you may be smashing all the dreams the parents have for that [child]… having the person who gives that diagnosis to the parents understand that they are changing that family’s world with the words that are coming out of their mouth may soften the blow” [40]
		Experiences and impact of receiving inconsistent or incorrect information [38, 51]	“[We were] just totally devastated by the initial results… [the neurologist] told me that I had the same duplication as [my child], and he had never seen that before…when I went to the genetics department, they told me it’s actually very common… for six months … I didn’t think there was any hope” [38]
	Sense-making	Challenges in understanding what test results mean for one’s child and family; desire to know ‘next steps’ [30–32, 36, 38, 39, 42, 45, 49, 50, 52, 53, 55, 56, 58]	“I came out of that feeling like, “so what does this mean?” Now what do we do? What is the implication not, dealing with not just, [child’s] own physical health but what does it mean for us” [42]
		Information-seeking behaviours; experiences navigating Internet resources [31, 32, 34, 38–40, 44, 46, 55, 58]	“A lot more people would be at ease if they would get information strictly from an actual doctor or a professional, and links to the pages to read, rather than you trying to Google it.” [44]
		Need for resources to help parents understand & remain abreast of research developments [49, 52]	Being informed about scientific research was considered important and.… links to understandable and consolidated information [were] desired to help parents to keep up to date… “like a website… [a] hospital web site. Like where the research comes from, information that we can go read on it on rare genetic kidney disease.” [49]
Partnering with & providing support for families	Provision of psychosocial support	Wanting to be connected with psychosocial supports but such support often not forthcoming [31, 35, 38, 40, 47, 48, 52, 55, 57]	“There was nothing there, no backup, no support, no counselling, just sorry there’s nothing we can do, no offer of help. I did come out of there extremely disappointed…there was no network, even to speak to someone, there was nothing.” [55]
		Need for health providers to ‘check in’ on how parents are faring post-testing [37, 45, 48, 52, 56]	“When families do get the diagnosis of these conditions, they need some help. You got to counsel [them], you have to call them and say right you found out the other day that your daughter/son has got ***, how do you feel? You know and how can we support you?” [37]
		Need for a case manager or equivalent to help guide parents during and after the testing process [34, 40, 48, 53]	.Several parents also commented on the…need for a ‘link’ person to support parents and other family members in the few weeks after the appointment. This would involve a key role in linking them to any new services required, whilst being cognizant of the wider psychological and social impact of receiving genetic information[53]
	Involvement of parents	Extent to which parents were (or wanted to be) involved [34, 36, 42, 53]	“…when [the geneticist] finally got to the end of what [s/he] was explaining to me and let me talk” [42]
Environmental context	Setting; time & resources available	Influence of aspects of the location or modality in which a diagnosis is delivered, and the supports or personnel present at the time, on parents’ experiences [31, 35, 38, 40, 42, 47, 48, 51, 53, 56]	“Confirmation given over the phone with no support available” [51] “I knew the deletion from when they gave me the results (by phone)…. But I didn’t know what they meant… I was going crazy trying to figure that out… [At the appointment] the charts really helped because I’m more visual” [38]
		Value of and need for adequate time to talk and ask questions [31, 37, 39, 40, 53, 54]	“He let us ask questions, and he let us ask as many questions as we wanted. He didn’t end the conversation. We did” [31]
		Accessibility of physical environment [48]	Parents reported that small waiting rooms without facilities for entertaining children, or those that did not adequately accommodate mobility devices were another barrier to positive experiences of attending genetic health services [48]
Timeliness	Parental readiness; waiting for results	Impact of the timing in which testing is offered on parents’ experiences [31, 40, 42, 46]	Some parents spoke of “the right time” for, or being “ready” to receive, the diagnosis. One mother who reported a positive experience recalled: “maybe, just, we were ready for it” [42]
		Impact of waiting for results; support needs during this time [36, 49, 52, 56, 57]	“Being kept informed is important I think… as waiting for the results, knowing that these can alter your life completely, is hard” [56]
Smooth transitions & continuity of care	Moving between and interacting with different providers	Understanding of the roles and responsibilities of the different providers involved; perceived distinctiveness of genetics [34, 48, 53, 54, 57]	“When the doctor told me, ‘I’m going to send you to a geneticist.’ I said, ‘What is that?’ because I had never even heard of the word ‘geneticist’ before…. I was scared.” [34] A difference identified by three parents between this appointment and those previously attended was that, at a genetic counselling appointment, it was the parents and the child who were the patients, and not only the child [53]
		Need for integrated care [32, 49, 52, 57]	Parents found the lack of liaison between genetics and other departments unhelpful [57]
	Continuity of care	Value of continuous relationships with providers [35, 38, 42, 44, 49, 52]	.[A] subset of parents felt more comfortable receiving information from their local paediatrician. Parents who opted for their local paediatrician to be the primary point of care described long-standing rapport and trusted that their paediatrician understood the comprehensive needs of their child[49]
Effective care by trusted health providers	Confidence & trust	Whether interactions with providers inspire trust and confidence in providers and the information imparted [30, 31, 44, 47, 49–51, 57]	“Very satisfied because everyone involved knew what they were saying and doing” [51] “The geneticist said in her mind that all that we had seen with him fitted in with other kids with this deletion… paediatrician said the same thing so we were happy that… this was the explanation” [50]
Emotional support, empathy & respect	Relational aspects of care	Experiences of receiving empathic & respectful care [31, 33, 34, 39, 42, 44, 47, 49, 51, 54, 56]	“Paediatric ophthalmologist not very sensitive; told us loudly with their back to our daughter… who is old enough to understand.” [47] “I feel like they’ve been really human with me… they’re not just focusing on the illness. They’re focusing on our family.… on our personalities.” [39]
		Responsiveness to parents’ emotional needs [42, 51]	“Doctors don’t know how to handle the shock that sets in with diagnosis” [51]
	CALD considerations	Additional considerations to meet the needs of, and provide culturally safe and respective care to, CALD families [33, 36, 39, 48, 57]	“The father [of my children] finished primary school [only], if [he] asks for information in Spanish they’re going to give it to [him], [and he] will read it, and [he] will not understand anything even if it is in Spanish… I sometimes understand more in English than in Spanish” [33] “Having that Indigenous [support] person next to you makes you feel more comfortable and confident to ask questions and talk… instead of just, yep, which is what a lot of Indigenous people do. They’re just like, yep. Even though they don’t understand…, they go, yep.” [48]