Table 2.

Understanding and attitudes towards the clinical purpose of the sequencing.

Categories	Themes	Example quotes
Understanding	To obtain a diagnosis	“This is where they can do testing for him to try and find his diagnosis” P07
	Implications for family members	“Sarah has got two brothers…if they’re carriers of the gene then they may pass that on” P02
	Might not get a diagnosis	“we’re very realistic about the potential for it to come back with nothing” P01
Perceived benefits	Desire for diagnosis	“when you spend so much time trying to find a diagnosis, you’re not going to say no” P18
	Last opportunity for diagnosis	“If this can’t yield [a diagnosis], I don’t know else would to be quite honest with you” P06
	Desire for clearer prognosis	“for information potentially about life expectancy” P04
	Need to understand why	“That need to know never leaves you… you always wonder why, how, was it you, was there something you could do?” P16
	Possibility of better treatments	“develop a drug that’s not an injection” P15
	Family planning	“If [my daughter] is going to have children, is it going to be passed on?” P16
	Curiosity about the rare condition	“wouldn’t impact treatment because they already know what’s going on” P15
Concerns	Prognosis more serious than initially anticipated	“if it’s one of the syndromes then there’s a possibility he could go blind” P02
	Anxious might have passed condition on	“it’s also hard because if something comes back in my DNA that says that I cause my son to be the way he is…that’s going to be really hard to accept” P07
	Not wanting to get your hopes up	“”I don’t want to get my hopes up that there is a definite diagnosis that we’re going to receive” P16
	Blood test	“[my child] doesn’t like blood tests” P08