yes, but it’s not advised, because if it was proven that either of them were likely to get polycystic kidneys, they would never be able to go on a school camp, and they would never get life insurance. (Australia) He’s 21 now and I’m pretty certain he has it and I say to him, ‘Whatever you do don't get it confirmed, just live your life as long as you can without being diagnosed, without getting it there in writing that you’ve got it,’ because superannuation, life insurance, job prospects, all these sorts of things that come up that are going to be detrimental or change his life in some way. (Australia) I actually tried to get some extra life insurance cover through superannuation and they said ‘yeah, polycystic kidneys, nope can’t do it’ so I got [doctor] to write a detailed letter about my renal function, and he reckons I’m going to be good for another 20 years, and they still wouldn’t insure me. (Australia) If you are not insured in health expenses insurance, you can be reimbursed later on but if you are diagnosed with PKD in your teens then you can’t get insured. (Korea) Limited work opportunities Even applying for jobs now, they ask you about your medical history. If you don’t know, you can’t write it down. (Australia) When I went for jobs, my job provider turned around and said, ‘You have to tell them anything that will affect your job.’ (Australia) My oldest son is in high school and the doctor advised me to organize genetic test for him before he enters army. I think if his test results come back positive and he is unable to attend army that may have a negative impact on his ability to work in future. I worry that it will place him in disadvantaged position. (Korea) Financial burden My nephew and his wife were pregnant, and she was going to get a test to see whether his daughter had polycystic kidneys. But the cost was huge, so he didn’t do it. (Australia) Genetic testing raises concerns about associated costs. There is added cost when you don’t know about diagnosis. Spending a lot of money in advance is a burden. (Korea) My family decided to undergo genetic testing with government support. It’s quite expensive for a whole family to do. It would be better if these aspects can be improved to reduce the burden on family. (Korea) Futility in uncertainty Erratic and diverse manifestation of disease limiting utility There are just so many variables in it, and there are plenty of people that die, and didn’t even know that they had it, they discovered it in autopsy. I just thought, [genetic testing] was a big call to make for something that could never ever actually develop. (Australia) You don’t assume that another person will get those same symptoms… everyone will be different, some similar but not the same. (Australia) Some people can go all through and live to old age and not know. It’s just a slower growing cyst, or a different form of PKD. There are some babies that are born with PKD that’s not conducive to life. (Australia) There are no two people the same in terms of what works or what, why it started or how quickly it declines. (Australia) Taking preventive actions in vain 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 at this stage anyhow, so why spoil that young person’s life? (Australia) No matter what you’re going to go through the process anyway, if you’ve got it. (Australia) I thought of this [genetic test] very negatively. There is no effective treatment, so why you need to know early. Knowing early without treatment means that you are mentally suffering… you have to live in pain as soon as you know. (Korea) To tell us information when there’s no possibility to make things better, is just giving anxiety for nothing. (France) Daunted by perplexity of results Everyone is not equal before the disease. To teach a young person that he has a sword of Damocles over his head, that he will be dialyzed, maybe grafted may psychologically damage him. (France) He just didn’t cope [with his possible diagnosis]. In fact, I even wondered if he was going to do something ghastly to himself. (Australia) I would just rather go through life not having to have that cloud over me at any point. So, if I was in my twenties and somebody said, ‘Here you can do genetic testing and it will show you've got this,’ I wouldn't want to. I just don't want to have that limiting my life at that point. (Australia) I have an 18-year-old son, when I broach the subject of him getting tested, what is it going to achieve? It’s only going to cause more stress. (Australia) Continued 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 6 Logeman C, et al. BMJ Open 2020;10:e038005. doi:10.1136/bmjopen-2020-038005 Open access Theme Illustrative quotations Unaware of risk of inheriting ADPKD Fertility and the genetics of PKD really fascinate me and impact me a lot and that’s probably the biggest impact in my life at the moment is whether or not I want to consider passing on the PKD gene, or to adopt, or if I want to terminate if I find out they do have it. (Australia) Knowing at some stage that you've got a possibility of a child having a disease is good because then it can help you with other decisions. (Australia) I'm only 25, I do not have children, and it’s true that this is a question I'm asking myself today. What do I do?