in making decisions, seizing control of well-being and anticipating impact on QoL. Subthemes are described in the following section. Illustrative quotations for each theme are provided in table 2. The conceptual links among themes are depicted in figure 1. Avoiding financial disadvantage Insecurity in the inability to obtain life insurance Some participants (specifically caregivers) were concerned about patients being labelled as ‘high risk’ when assessed for life insurance and expected they would pay higher premiums, be unable to obtain insurance or be ‘dropped’ by their insurance provider. They suspected they would be unfairly penalised for a disease that may not manifest. For this reason, some did not disclose ADPKD or avoided confirmatory tests—‘Don’t get it confirmed, just live your life as long as you can without being diagnosed’ (caregiver, France). Parents worried that limited insurance would restrict their children from travelling and from attending school camps. Limiting work opportunities Some patients feared discrimination from employers who could deny or dismiss them because of a diagnosis. Some worried that the disease would impair their physical ability to perform at work. Parents considered how the risks of early diagnosis through testing may jeopardise work opportunities for their children—‘[my] doctor advised me to organize a genetic test for [my son] … but then I think if his test result comes back positive … this may have a negative impact on his ability to work in future’ (Australia). Some refused tests and avoided disclosing their medical history to protect employment prospects. Financial burden Some presymptomatic participants wanted to undergo testing for ADPKD, but the cost was prohibitive, particularly for participants in Korea—‘Genetic testing raises concerns about associated cost…. spending a lot of money in advance is a burden’ (Korea). Some believed that a history of ADPKD warranted reimbursement from the government to improve equity of access to testing. Futility in uncertainty Erratic and diverse manifestations of disease limiting utility The symptoms of ADPKD were regarded as unpredictable, such that a diagnosis would not provide useful information about symptom burden and prognosis. Patients and caregivers believed it was unnecessary to be concerned until symptoms become apparent—‘[confirmatory testing] was a big call to make for something that could never ever actually develop’ (Australia). Taking preventive actions in vain Participants who had been diagnosed through screening felt frustrated when attempts to minimise disease progression (eg, with antihypertensive medications or smoking cessation) proved futile. Some felt helpless and perceived that testing prior to experiencing symptoms was useless since they were powerless to change the unpredictable course—‘There’s no benefit to knowing early. There is nothing they can do to change the outcome, it’s going to happen in its own time’ (Australia). Daunted by perplexity of results Some parents worried that their child would be overwhelmed in trying to comprehend or interpret the results from testing and that it would create ‘a sword of Damocles over [their] head causing worry, anxiety, depression and even posttraumatic stress disorder’ (France). Unaware of risk of inheriting PKD The threat of transmitting the disease to their children caused decisional conflict about testing. Some felt they would be more empowered by knowing the results—‘Knowing that you’ve got a possibility of a child having a disease is good, it can help you with other decisions’ (Australia). Others struggled with the uncertainty of the impact of tests on decisions about family planning—‘probably the biggest impact in my life at the moment is whether or not I want to consider passing on the PKD gene’ (Australia). For parents who were diagnosed after having children, they believed that the diagnosis would not have impacted their decisions and were aware of options such as preimplantation genetic diagnosis—‘Genetically if there was some way of knowing that I was going to pass it on would I take that, or would I just go ahead and have the child? […] I would have the child’ (Australia). Lacking support and autonomy in decisions Overwhelmed by ambiguous information Participants felt ‘completely in the dark’ about testing. They struggled with conflicting opinions, such as what age to get screened, and some felt misled by clinicians—‘I remember the specialist [saying to mum], “girls don’t get polycystic kidney disease so you’re fine having two girls,” so my sister and I lived in oblivion until I was 42’ (Australia). Some thought that clinicians did not provide adequate genetic counselling. In Australia, some were unaware that a genetic test was available and felt they should be informed. They searched for information on the internet and asked other 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 5 Open access Table 2 Selected illustrative quotations Theme Illustrative quotations Avoiding financial disadvantage Insecurity in the inability to obtain life insurance I asked many years ago whether I could have testing done on my children and I was told