TABLE 3.

Parents’ experiences of germline genome testing, with illustrative quotes.

Theme	Subtheme	Illustrative quote(s)
Expectations	Beliefs about cancer running in the family	I actually found out [child]’s full cousin had a brain tumour as well, so in the back of my mind I’m thinking “is this genetic?”… So, when they mentioned they were going to do a genetic test, I was really keen on getting that back (mother of a 14 year old, CNS diagnosis; no clinically relevant germline finding).
		[My dad’s] brother died from a brain tumour. It was a familial brain tumour, or they think it was. It was nearly 20 years ago, at the introduction of familial genetic testing. My aunty sent me through that paperwork when she found out that [child] had cancer (mother of a 16 year old, CNS diagnosis; clinically relevant germline finding).
Recall of germline findings	Confident recall	The germline mutation is in [gene]. And at the moment there’s nothing they can do about [gene] and it’s so variable that it just depends how it manifests essentially, going forward (mother of a 3 year old, leukemia/lymphoma diagnosis; clinically relevant germline finding).
		They sent us a letter to say that they didn’t find like a hereditary connection. So yeah, that was good as well. That was useful information to have. So, they said that they don’t see a potential issue in future children (father of a 1 year old, sarcoma diagnosis; no clinically relevant germline finding).
		We were told that, no, it wasn’t hereditary. It wasn’t genetic. It was just bad luck she got it (father of a 4 year old, CNS diagnosis; no clinically relevant germline finding).
	Uncertainty or confusion	I don’t know if I got the information though…actually, I did get some results. I did get some results which are probably in with all my other notes. Cause’ [the PRISM team] did ask if I wanted to know the results or not. I can’t remember if I actually said I wanted to or not (mother of a 16 year old, leukemia/lymphoma diagnosis; no clinically relevant germline finding).
		I know there is something wrong with his genes. There was a mutation, and there’s no medicine at the moment, and maybe there will be. I don’t know if there is any more I can get with my level of understanding (mother of an 11 year old, leukemia/lymphoma diagnosis; no clinically relevant germline finding).
		It was only a real quick conversation with the doctor while we were talking about something else, like, “oh we didn’t find anything there.” …the genetic testing for any predisposed cancer—did they do any of that? I just wanted to be told something (mother of a 5 year old, “other” diagnosis; no clinically relevant germline finding).
	Awaiting consultation with cancer genetics services	The genetic change that they did find is not related to [child]’s tumour and apparently it’s not associated with [child’s] cancer. But it’s associated with another type of cancer.... So, to be honest, they don’t know how to interpret it…it’s something that we are going to discuss with the genetic counsellor… (mother of a 2 year old, neuroblastoma diagnosis; clinically relevant germline finding).
		At the moment it’s about getting through treatment. Yes, it’s another issue that [child] may have to cross later on. For right now, we need to deal with now (mother of a 16 year old, CNS diagnosis; clinically relevant germline finding).
Impact of germline genome testing	Positive impact: Valued information	It scared me, but I’d rather know…the more information I know about myself and their father, the better I can deal with it…then I can know more, in terms of my kids. If you know [the cancer predisposition syndrome] is there, you can make choices based on it (mother of a 16 year old, CNS diagnosis; clinically relevant germline finding).
	Negative impact: Personal emotional consequences	It’s a mix between kind of relief, that we know what it is, and then horror and guilt I guess. You know, I can’t believe that so much could go wrong in such a tiny person…trying to work out if it’s something you’ve done which obviously it’s not but.... Yeah, it’s just a mixed bag of feelings (mother of a 3 year old, leukemia/lymphoma diagnosis; clinically relevant germline finding).
	Negative impact: Emotional consequences for the family	That was a little stressful on not only us, but the rest of my family. My brothers and sisters were worried because they’ve got kids around the same age.... (father of a 1 year old, “other” diagnosis; clinically relevant germline finding).

Note: We conducted some minor edits of quotes to improve readability; for example, removal of filler words (e.g., “um”) and repeated words/phrases (e.g., “you know, you know”).

Abbreviation: CNS, central nervous system.