with a transplant, and this strengthened confidence in their decision to be tested. Some appreciated that testing was more accessible for their children—‘now any of my family can go and get it done’ (Australia). Anticipating impact on QoL Reassured by lack of symptoms Some participants were not interested in testing because their QoL had not been affected. They questioned ‘well do I actually have it’ and did not worry about their disease or testing—‘I have not had any major problems related to the disease’ (France). Some parents were not concerned with testing or genetic transmission as they believed their child would not suffer a disadvantaged life because they had not. Judging the value of life with ADPKD Some parents believed they would have decided against having children if they had been tested because ADPKD had caused their family to suffer—‘If I knew [that I had PKD], you would not be here’ (France). Some participants respected their parents’ decisions to have children but questioned that if they had had been tested ‘would I exist today?’ Some did not see the merit in testing as they valued their lives regardless of ADPKD—‘You’ve got to be pretty careful in that area because you create beings that are adding quite a bit of value to society’ (Australia). DISCUSSION For some patients with ADPKD and caregivers, testing provided an opportunity to gain certainty about their Figure 1 Thematic schema. Participants felt that their ability to take control of their health was influenced by how prepared they were financially and was hindered by the unpredictable nature of their disease symptoms (indicated by the solid lines). Participants often felt that they were conflicted in whether or not they wanted to be tested for polycystic kidney disease (PKD). This decisional uncertainty (indicated by the dotted lines) was prompted by the uncertainty in participant symptoms, whether they felt capable of seizing their health, how they anticipated the impact on PKD on the quality of their life and whether or not they had support and autonomy in their decisions. ADPKD, autosomal dominant polycystic kidney disease. on July 8, 2022 by guest. Protected by copyright. http://bmjopen.bmj.com/ BMJ Open: first published as 10.1136/bmjopen-2020-038005 on 10 October 2020. Downloaded from Logeman C, et al. BMJ Open 2020;10:e038005. doi:10.1136/bmjopen-2020-038005 9 Open access health status, foster motivation and confidence for selfmanagement, prepare mentally and financially for the onset of symptomatic disease and seek support from family. However, others perceived testing as futile because they perceived preventive measures had little impact, and the onset and course of ADPKD were unpredictable. They were also concerned about interpreting the results and the implications for their current and future life, which could cause unnecessary worry and anxiety, particularly with regard to family planning. The costs incurred in accessing testing and the potential financial discrimination they expected to endure would impose substantial constraints on their lives and futures. Overall, the perspectives of patients and caregivers were similar as they felt inadequately equipped and conflicted in making decisions, which was exacerbated by a lack of support and information and perceived pressure from family and healthcare professionals. They were also uncertain about the severity of the symptom burden, and it was difficult to judge the value of life with ADPKD. Patients who witnessed intense suffering in their family members with ADPKD were inclined to refuse testing to avoid becoming anxious about their future and did not expect that the diagnosis would increase their sense of control. Lack of support has been recognised and, through discussions with specialists and patient advocates, this led to the development of a route map for ADPKD (available in three languages) intended to help patients and all stakeholders navigate through the services available to them (including genetic testing, diagnostic, management and treatment options).18 The variability in policies across the countries and parent-child roles may also explain some differences in perspectives. The diagnosis of ADPKD using methods other than genetic testing is routinely offered as the latter is not readily available or accessible in many countries. The cost of testing was of particular concern to patients in Korea, which may reflect the fact that testing is not funded by the government.32 This has led to an increase in direct-to-consumer genetic testing, which has negative ramifications because the public is often unaware of their clinical and social implications.32 Korean patients were particularly concerned about the cost burden of the disease and expressed that they did not understand the added value of paying for a presymptomatic ultrasound test if cysts may develop later in life. A recent study showed that more than 70% of Korean patients believed that genetic testing should be included in Korea’s national health testing programme so these services can be provided at little expense.33 In Australia, access to dialysis and transplantation is provided to all citizens via government-funded Medicare system.34 Transplantation is primarily limited due to insufficient kidney donors available to meet the number