Pre-appointment
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.
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 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.” Difficulty in accessing appropriate services, including clinical genetics, is a common experience among people with rare conditions, and not unique to Aboriginal and Torres Strait Islander patients. However, this does highlight the importance of improving genetic literacy and knowledge of referral pathways to clinical genetic services among primary care providers, including those practicing at Aboriginal Community Controlled Health Services.
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 flossies2. So ... 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 aware 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” 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. Although Indigenous patients are generally eligible for free transport to medical appointments, such as the Patient Assistance Transport Scheme (PATS), some participants were not aware of these services.
Patients from regional and remote areas who had accessed PATS (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 consumers indicated that they would. Others expressed that having genetic health professionals of Indigenous 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 Indigenous service-users.
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 ...
Mm-hmm, talking?
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 ALO present encompassed a number of themes, including having “another set of ears” or who someone who “could break down or explain things along the way”, 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.
Communication
Many people 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 significant number of 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 this most often occurred in the context of a monogenic disorder being diagnosed.
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!” Another patient 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. Some participants 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
Patients’ 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 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. This was particularly true of patients with special needs. Parents reported that small waiting rooms without facilities for entertaining children were another barrier to positive experiences of genetic health services.
Post-appointment
Support
Most patients attending clinical genetic services 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 patient appreciated the written information although felt they “still couldn't really wrap [their] head around it” (Parent, QLD).
Some patients indicated that they would like a follow-up call from the doctor or genetic counsellor after they have 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. One patient who was involved in a research project as part of their clinical care felt they benefited from additional time to explain their condition provided by the supervising clinician-researcher.
The need for support for the psychological and mental health sequelae of interactions with clinical genetic services was also clear. As clinical genetic services often work in a way that is disconnected from patients’ regular healthcare setting, patients sometimes do not receive directions in finding reliable information or appropriate support. This supports the imperative to build capacity in primary care, particularly Aboriginal Community Controlled Health Services, as well as to ensure that patients always receive a summary of relevant information directly.
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.
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.
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).
2Australian slang – bottom or genitalia.