Table 3.

Preferences and Rationale Regarding Receipt of Secondary Variant Categories

Secondary Variants for Treatable and Preventable Conditions in Childhood
Parental Preference to Learn Result	Number of Parents	Rationale for Preference	Total References	Exemplar Quote
Yes	25	Helps guide child’s healthcare	17	“You want to be able to do the best for your kid. And if it’s a preventable thing or a thing that can be watched… I am more optimistic on keeping an eye out for something that’s likely to happen and can be controlled through diet or medication, so I would be welcoming of that sort of information.” [F/11y]
		Need to know/prefer to know	6
		Knowledge is important/worthwhile	5
		Allows planning and/or preparation	3
Conditional Yes	0
Neutral/Ambivalent	0
No	0
Secondary Variants for Untreatable or Unpreventable Conditions in Childhood
Parental Preference to Learn Result	Number of Parents	Rationale for Preference	Total References	Exemplar Quote
Yes	10	Measures can still be taken to avoid condition	10	“If she wanted to be part of another study where they took a look at people that have the gene that predisposes them to a disease or illness like that, that might help other people. It might help [my child] depending on what they find out. There’s a silver lining to everything.” [M/1y]
		Parents can keep abreast of research and identify treatments that may become available in the future	7
		Need to know/prefer to know	4
Conditional Yes	3	Parent wishes to learn result but will wait to share with child until an appropriate time	4	“If something happens where it comes up and some kind of conversation has to happen, then it has to happen. I wouldn’t want to just withhold it from [my child], I wouldn’t want to try and hide it. I would want – whatever appropriate time that his mother and I or whoever may decide that it’s right for whatever information that I have to tell him it’s his right to know.” [F/2y]
Neutral/Ambivalent	6	Need to discuss/think about further	3	“I might want to know, but I think this is the kind of thing that we would need to think about more.” [M/3y]
No	6	Adds worry		“Well, if there’s no testing for that – no, I don’t think so. Then it might just give us more to keep on our heads, make us worry about something that I have no control [of] at all.” [F/5y]
Carrier Status for Recessive Genetic Conditions
Parental Preference to Learn Result	Number of Parents	Rationale for Preference	Total References	Exemplar Quote
Yes	13	Will help with future reproductive decision making	10	That would be a good piece of information for her to have when she is considering starting a family, at least so she is prepared going in. I don’t think it should be [the] only thing [when] she decides whether or not she wants to have a family later in life, butit may help her to make a better decision or at least be prepared that that could be a possibility” [F/11y]
		Will allow for informed decisions	6
		Need to know/prefer to know	4
		Knowledge is important/worthwhile	2
		Will allow preparation for future	2
Conditional Yes	5	Will wait until child is older or indicates a need for testing	6	“The reason I would like to learn about them is because I think it definitely will be beneficial for my girls as they got older to understand and know what life kind of brings” [F/5y]
		Child must make own decision to learn	6	“She has the right to choose and the right to know it is her body and I respect that. And it’s whatever DNA the Lord has given her, so it’s not up to me to hide anything from her that’s already hers, but as her Mom, maybe to not give her too much knowledge too soon so that it doesn’t overwhelm her and lead to other problems.”[M/11y]
Neutral/Ambivalent	7	Preference depends on other factors	3	“I think we can kind of get into a dangerous area though there where, you know, may we want to know and it might have implications for other people in our [families] but maybe they don’t want to know. [F/9m]
Negative	0