Have children? Naturally or do I ask to go into a process of assisted reproduction to try to remove that gene. (France) I cried a lot blaming [my mother in law] why my husband had to suffer from this genetically inherited disease…. My biggest wish is that this does not affect my children. (Korea) Lacking autonomy and support in decisions Overwhelmed by ambiguous information He [doctor] didn’t know what to say. Screen or don’t screen. (France) I didn’t have enough information on that, so I tried to search the internet. (France) No one’s ever brought [genetic counseling] up to me, it’s always been, ‘Oh, this is what you’re looking forward to, this is what we have to do to your mother,’ it’s never been on the fertility part of it at all and I actually had to go to a fertility doctor to help me. (Australia) [Genetic testing] is rarely offered to us. (France) Medicalising family planning I was a young woman, and [the doctor] said when you get to the point of having children, we can certainly test your fetus to see if it has polycystic kidney disease, and then you could terminate if it did. And I didn’t go back to him, ‘cause I didn’t like that. (Australia) I felt like he thought that was my civic duty to try and eliminate this disease, well if your baby’s got polycystic kidney disease, we’ll just terminate it and then you can try for another one, and there’s a 50% chance that it will or won’t, and you could just, terminate any defective ones. (Australia) We cannot detect [ADPKD] before the end date of the abortion authorization. So, this is a debate that leads nowhere, because there is no opportunity to choose. It’s either we do not have children at all or we take the risk. (France) Fetus is also a life. If a genetic test finds PKD, are you going to abort the fetus? No. So, if I find out early with fetus in utero, I will feel guilty and have bad feelings. I just don’t see why this is necessary. (Korea) Family pressure If they were planning on having children, I’d potentially encourage them to be tested before then just, so they can keep an extra eye on it. (Australia) [PKD is] a family concern, because she’s my sister, she’s a bit concerned. So, she wants to make sure that the boys don’t have it. (Australia) So, you know, my family’s all on my case, oh why don’t you get tested? (Australia) You have to follow up. If someone is found in the family, who is affected, then … I got the report, you have to follow up on the rest of the family too … they are invited to do some research. (France) Seizing control of well-being Gaining confidence in early detection If you know about it early, you can do some things to help yourself, to prolong [your kidneys] life. Maybe don’t have a huge steak and have more vegetables and less protein, lots of water and that sort of thing. (Australia) Personally, I think that it must absolutely be done and know if one is sick or not to anticipate and preserve the maximum [kidney function]. (France) I think it may be better to get children tested early. So that parents know, to better look after their health, their diet, care with sport… and then to tell them when they have grown up as adults to allow them to make informed decision. (Korea) If you don’t know the result of genetic test, as a parent it is very difficult to reinforce the importance of dietary health, so as a parent there is definitely an aspect you want to know (through genetic testing). (Korea) Allowing preparation for the future I might’ve put more away in super rather than running my own business so much, had I known, but that opportunity wasn’t there for me because I didn’t know at that time. (Australia) I went on dialysis a lot quicker because I was working in a job with huge stress. Now, if I would have known I would have got out of that job years before because I didn't realize that my blood pressure was like 180 over something. (Australia) For someone who has gone on dialysis and sold my business and can't travel, if we had had been educated earlier, we would not have worked so hard, we would have had a holiday, all those things would have been done so we had no regrets later. (Australia) Table 2 Continued 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 Logeman C, et al. BMJ Open 2020;10:e038005. doi:10.1136/bmjopen-2020-038005 7 Open access family members with ADPKD but were disappointed by a general lack of information. Medicalising family planning Some participants regretted having tests when they were advised against having children—‘[The doctors said] “don’t reproduce, that will stop the disease”’ (Australia). Some diagnosed through screening feared judgement from clinicians and felt pressured against having children. Others appreciated the direct advice in family planning to support their decision—‘[The doctors] told me “don’t do it”. And I made the choice—no kids’ (France). Some resisted prenatal testing to avoid having to confront decisions about termination of pregnancy—‘if genetic tests find PKD, are you going to abort the fetus? No. If I found out early with fetus in utero, I will feel guilty and have bad feelings’ (Korea). Some participants in France thought prenatal testing was useless because abortion was illegal—‘When he was in utero, I wanted to abort. At the time, it was not possible’ (France). Family pressures Some thought they should convince their family to get