The semi-structured interviews began with the participant recounting the story of attending the clinical genetics in their own words. The following results are presented to align chronologically with the stages of a typical patient journey, with emergent themes highlighted for each stage.
Referral process and preparation for attending the service
Three key themes emerged relating to the lead-up to an appointment with genetic services. Firstly, the referral to the clinical genetic service was often one of a large number of referrals received by patients, particularly in the case of referrals for complex paediatric conditions.
We were pretty much living in and out of the hospital at the time. A lot of everything else, appointments and therapies and just dealing with the prospect of a challenging life to be from this point on. Parent, NT
Consequently, patients were often unsure about why they had been referred to the genetic service and did not really understand how this appointment related to other healthcare services they were currently accessing. For example, patients were often confused and sometimes anxious about why they were asked to bring all their children to an appointment when, from their perspective, only one child had an issue that needed to be explored. Furthermore, the long wait times experienced compounded confusion about the reason for the appointment. Some parents reported that they had forgotten why they had been referred by the time they were called to the appointment, sometimes over a year after the initial referral.
The second theme was the difficulty in obtaining a referral to a genetic health service. Some patients experienced racism and stigma throughout the process, blocking their access to appropriate care. While this is outside the remit of the clinical genetic services themselves, it does highlight the critical need to ensure culturally safety within clinical genetics services, as well as for boarder systemic change.
We found the other two fractures and I started obviously asking questions to why he would being having fractures. [The hospital], they had their opinion that it was something that me and my partner did and so they weren't really willing to look past anything else other than that. Parent, NT
One patient who had a family history of a rare disease recounted having her request for a referral blocked by a primary care doctor who “made [her] feel really silly for wanting it, and saying that … I can’t get an appointment because I don’t have a direct link, when I clearly do.”
The third theme was that patients often arrived at the appointment with a limited understanding of the nature of the appointment, the kinds of questions they might be asked and decisions they might need to make. These issues were exacerbated by the fact that information provided by referring specialist physicians was of variable quality.
[I] was very confused, yeah, because she didn't quite say that there was something wrong, but she didn't explain to me what [geneticist’s name] was. She didn't really explain anything.
So she didn't tell you that it was a genetic doctor?
No. No. And she didn't say that I could possibly … we just want to look in to mainly that if he has any genetic growth problems. She didn't even explain that. She just said, "Oh, I want you to see the specialist. I'll book that in for you," and then you get in your car again, then it's just what was that all about? Yeah, Yeah. It was quite rushed. Patient, NT
Many patients recalled receiving written information from the genetic service prior to their appointment, but few found this helpful in their preparation to attend—indeed most people said they had not read it. In the following quote, a carer describes how additional information about what to expect in the appointment would have made for a smoother experience for his family.
So the geneticist did a physical examination of the children?
Yeah and they got some strange man wanting to look at their flossies.Footnote 2So ... you probably need to communicate that, a bit better … But if I had a bit of prior notice, then I could have worked them up beforehand and you know, this is what's going to happen when we go in there. Carer, NT
Affordability and accessibility
The clinical genetic services included in this study were provided free of charge to patients, including the cost of any testing that was deemed clinically appropriate. However, patients were often not informed of this before the appointment. This was a considerable source of anxiety to some patients and may be a barrier to some patients attending. One parent describes how they had “heard that exome panels can cost like 4 and a half to 7 and a half thousand dollars” (Parent, NT) and feared they would have to pay for it if it was recommended. Although the services themselves were cost free, affordability remained a significant barrier for some participants because of other costs associated attending the appointment. Some participants reported that car parking, fuel costs and organising time off work were significant barriers to attending appointments.
Aboriginal and Torres Strait Islander patients are generally eligible for free transport to medical appointments, such as via the Patient Assistance Transport Scheme or their Aboriginal Community Controlled Health Services, however many participants were not aware of these services. Patients from regional and remote areas who had accessed Patient Assistance Transport Scheme (or similar) had varied experiences, which tended to hinge on initiative taken by the patient’s referring practitioner, that practitioner’s knowledge of the system and ability to advocate on their patient’s behalf. In most cases funding was only provided for the patient to attend, whereas some people were funded to travel with a support person, or dependent children. Availability of funding support to ensure that patients do not have to attend appointments alone is an issue in all areas of health. However, it is particularly problematic in relation to attending clinical genetic services where the appointment might be relevant to other members of a family group. Many patients felt that expanded outreach clinics that provided specialist services in regional and remote areas would have been beneficial in terms of logistics and continuity of care.
During the appointment
Aboriginal support services
None of the participants had used or been offered the support of an Aboriginal Liaison Officer during their clinical genetics appointment, despite being these services being available within the hospitals where the clinics were held.
[I was] not really culturally supported, I don't think anyone really took notice of my culture, being Aboriginal, or anything like that. No support was given to me as a result of being Aboriginal, it was literally my mum that was there for me. Patient, QLD
Having that Indigenous person next to you makes you feel more comfortable and confident to ask questions and talk, you know, speak more instead of just, yep, which is what a lot of Indigenous people do. They're just like, yep. Even though they don't understand them, they go, yep. Okay. Yep. [ … ] It almost relaxes the stresses down a bit so the important stuff can come out. Parent, NT
A number of interviewees expressed surprise that a mainstream health service would take interest in their feeling culturally supported but agreed that this would have improved the experience they had when accessing the clinical genetics service. When asked about whether they would have taken up the opportunity to have an Aboriginal Liaison Officer present during their appointment, many participants indicated that they would. Others expressed that having genetic health professionals of Aboriginal and Torres Strait Islander heritage would make them feel more comfortable and supported in understanding the process of assessment and diagnosis for inherited conditions.
I think would be really good, when you get your letter and that, to have an inclusive thing cause on that letter, doesn't ask, "Do you need an Aboriginal person to come with you?" It doesn't ask anything like that. Now that you talk about it, it would be good, but it never ever crosses my mind. I just go to my appointments. Parent, QLD
I would have loved that because there are a lot of health issues that affect Aboriginal-Torres Strait Islanders more so, or histories and their dynamics of family are a lot different as well. If I had the option of having an Aboriginal liaison officer with me, I would have said yes to it every single time. I've got eight kids, so you can imagine how many times I'm in hospital, and having that person there that understood their culture and how some things are different in their culture to Europeans, that would just be amazing. Parent, WA
Lack of Aboriginal and Torres Strait Islander support meant that important issues from a socio-cultural perspective were not recognised or managed. Among Aboriginal and Torres Strait Islander women, gender may impact interactions between patient and practitioner based on cultural norms, lived experience and personal preference. A male guardian of female children also stated his preference for another woman to be present for physical examinations. Provision of culturally safe care should include awareness of how gender may act as a barrier to engagement more frequently among Aboriginal and Torres Strait Islander patients.
So I have anxiety when it comes to speaking to men, so the doctor who we spoke to was a man, and it was harder to concentrate and be calm. Whereas, if it would have been a female, I would have been a lot more calmer. If it would have been an Indigenous person, I would have been a hell of a lot calmer. But understanding that Indigenous people have a problem with, culturally, a man and a woman …
Yeah. Talking and socializing and giving information to each other is sometimes a big no-no. Parent, NT
I knew that I was being listened to, because they answered the questions that I was asking. What was intimidating was the setting, and it being just me in a sterile room with this doctor. And a male doctor. Patient, QLD
The reasons indicated for the preference for having an Aboriginal Liaison Officer present encompassed a number of themes, including having “another set of ears” (Patient, QLD) or who someone who “could break down or explain things along the way” (Parent, WA), alleviating concerns about gender, having someone to advocate on their behalf when delays or barriers were experienced, and specifically because they would feel more comfortable in a consultation if another Aboriginal person were there. Regardless of the motivation, or perceived “need”, this group of patients indicated that they wish to have their Aboriginality acknowledged in their interaction with the clinical genetics service.
Participants described feeling overwhelmed by the amount of information they had to take in during their appointments. Furthermore, they were candid about the fact that they had little prior knowledge of genetics in general. However, there were also a patients who felt that the breadth and depth of information provided to them was very appropriate and easy to understand. It should be noted that patients who felt the communication had been appropriate were most often those who had been diagnosed with a monogenic disorder, the implication being that these conditions have both a relatively simpler pattern of heritability and more direct relationship between genetic variant and phenotype.
Clinicians’ communication style during the appointments did not always support patients to develop an appropriate understanding of key concepts, such as the information that testing will provide and eligibility to access it, risk to the individual, family members and future children, the likelihood of shared aetiology with other conditions in the family and detection of benign variants or variants of unknown significance. Some patients were unable to understand the complex medical terms and concepts discussed in the consultation. This contributed to dissatisfaction and ongoing anxiety long after attending the service. As one mother aptly put it: “This is my boy’s health! Talk straight to me!” (Parent, NT). Another participant described “feel [ing] like an idiot” when she did not understand her practitioners. She responded by “smil[ing] and nod[ding], making notes [with the intention to] google that after and find out what it means” (Parent, WA).
The patient journey to and from clinical genetic services means that there are often limited opportunities to clarify understanding. The decision whether to undertake testing is usually finalised in the first appointment and results returned in a second, without further patient follow-up or discussion of results. This also means that patients may be left in doubt about appropriate next steps. The sentiment was also expressed that an additional follow up appointment would help them to better understand their results and “ask the right questions” about their implications (Patient, WA).
Inclusive and appropriate environments
Participants' confidence and ability to engage with their clinician was further limited by the physical and social environment of the services. Waiting and consulting rooms tended to be sterile and alienating with few welcoming signifiers for Aboriginal people. While primary health care services in Australia often include Aboriginal-themed posters, Aboriginal-specific public health information or an Aboriginal flag that serve to make Aboriginal patients feel more comfortable, these are not generally included in genetic health service environments.
The lack of representation of Aboriginal and Torres Strait Islander people within the services, be that as members of the workforce or in brochures, posters and information sheets, indicated to patients that genetic conditions are not something that Aboriginal people should be concerned about. A number of patients reported that there were very few Aboriginal and Torres Strait Islander people attending the services and that this contributed to their feeling of isolation.
We got, "We've gotta keep our ears clean. We've gotta keep our hands clean." We've got all of those posters. There's nothing on genetics. We don't have anything on that and how to explain it. Parent, NT
To this day I still don't know if there is another Aboriginal person out there with what [son] has because I don't think they had that information. Parent, WA
The nature of clinical genetics means that whole families were sometimes required to come in for consultations. Consequently, patients were often distracted by their family responsibilities with children “bouncing off walls” (Parent, NT) and were unable to fully engage in the consultation. One patient felt that the practitioner was also distracted by the children present and “couldn’t wait to get us out the door” (Parent, NT), which impacted on the quality of health information imparted in the consultation. 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.
Support: appointment outcomes and psychosocial needs
Most participants felt that there was insufficient support or opportunity for further discussion following their appointment. There were mixed experiences of receiving a report or letter detailing what was discussed in the appointment, although when this occurred it was generally found to be helpful. One parent appreciated the written information although felt they “still couldn’t really wrap [their] head around it” (Parent, QLD).
There was indication from participants that a follow-up call from the doctor or genetic counsellor would have been appreciated after they had had an opportunity to process the information they received and to think of any questions that were not answered during their consultation, or in the course of their own research afterwards.
I think, yeah, a follow-up phone call within the next week would have been really helpful. Especially for me because I didn't take much during that meeting. Parent, NT
It was only afterward, and you're like, "Okay. What about, what about, what about?" Then, it's all too late by that point. Parent, QLD
The need for support for the psychological and mental health sequelae of interactions with clinical genetic services was also clear.
I felt lost. I had so many people [different doctors] to see and stuff, which is fair enough, but I suppose just to ask if I was all right and how do I think I'm going to be able to move forward doing this. Parent, QLD
Interviewer: And so the overall experience, what do you think was the most challenging?
Parent: The processing it all. Maybe another, like, check-up just to check on me sort of thing. Parent, QLD
Parents of children with rare diseases described overwhelming feelings of isolation. Online communities (such as Facebook groups) were an important source of both support and information, however these were often found as a result of the parents’ own research, rather than on the suggestion of the practitioner or genetic counsellor. There was also a strong desire to form linkages with other Aboriginal families, in order to have their life experience, worldview and perceptions of disability that may differ from those of white parents validated. The lack of Aboriginal-specific support groups for most genetic conditions was an issue for some parents, such as one who “felt worse” after accessing a mainstream support group that felt alienating (Parent, WA).
Themes relating to post-appointment support are equally, if not more, relevant to patients and families for whom attending the genetics services does not achieve a definitive diagnosis. As this group continue on their diagnostic odyssey, feelings of helplessness, uncertainty and confusion are common, however among our participants, there were no examples of these patients receiving appropriate psychological support after attending genetic services. One parent described the distress she felt throughout her sons’ childhoods:
I only did it [genetic testing] because I was just trying to really find out like I said, I don't know like, did I give them this condition because like, it's been really hard for me, for many, many years with no help from anyone, really. [ … ] I'm just confused, like, one minute, they said that it wasn't genetic—for years. I was just struggling right from when they were three and five, when they were diagnosed, and went through numerous schools like, so many, and just feeling so like, well, helpless, really, because I couldn't—I didn't know how to help them. Parent, QLD
Planning for the future
A significant source of anxiety expressed by a number of parents related to being asked to return to the service with their children at some point in the future (such as “five years” or “when the children are adults”), without a definitive time frame being given, nor the ability to arrange a reminder call to arrange an appointment. One parent suggested she “thought waiting until they’re in their teens was a bit harsh.” (Parent, QLD).
A few patients who were diagnosed with a condition they were at risk of passing on to their children were told to return when they were considering starting a family. While discussing the reproductive implications of a diagnosis may not be of immediate concern, this gap in information was a significant burden, especially among young women who were pragmatic about the reality of unplanned pregnancies. One mother spoke about continued feelings of uncertainty and stress more than five years after attending the service indicating that she thought there was a real possibility one of her sons might have a child before they returned to the genetic service in their late teens to discuss the risk to their offspring (Parent, QLD). This was also the case for one young woman who was learned she was at increased risk of cancer in her early teens:
Interviewer: Do you feel as though you needed more information about things, you know, to look at in the future?
Interviewee: Um, the only thing probably would be um, like pregnancy. We got told when we were there about um, coming back and talking to someone about when you’re wanting to try to have children. So, that was probably the only thing.