Information related to feedback of preliminary results

The participant’s need for information varied. Almost half preferred to only be told of the result after clinical confirmation. The most prominent reasons for waiting for the final result included avoiding unnecessary stress and worry over an inconclusive result, the need for certainty and to maintain peace of mind.

“Because I want like solid evidence that this is what they’ve found. I don’t like this could be and that could be and then take the second sample and then it’s like a totally different ballgame and that’s why I’d prefer end results and in fact we’re willing to wait longer for that.” (Participant 1)

A few expressed their desire for receiving preliminary research results, indicating a need for study involvement and to be prepared for the possible outcome.

“I would like to know that yes. Like what is it and why? What did you pick up that you just want to verify. Yes, I know maybe it’s not it, but just so I know exactly where they are heading.” (Participant 15)

Further reasons included wanting to know if they needed to be concerned, the desire to assist in the research being conducted but expecting researcher transparency throughout, the right to know and be informed.

“It’s also the need to understand how they got to the point. So yes, they found something they’re not sure and they need to double check it. But it would be nice to know that you guys actually … there’s some type of progress. Because it’s going somewhere and not just, we’re back here again.” (Participant 15)

There was a perceived potential for preliminary research results to cure or treat their child, possibly referring to the timeous receipt of results and early intervention.

“In case there’s something maybe we can fix.” (Participant 14)

Most participants would automatically assume that a causative variant was found if they were contacted about the collection of a second sample:

“Obviously I would know then that it’s got something to do with our genetics. So I’d probably wouldn’t want to know because then I’m going to mull over it for the next couple of months while they do the second sample. So I would just assume that something is up with one of us and that they will have to verify it. So I’d prefer to get like actual information rather than this could be and that could be and we’re still busy with that.” (Participant 1)

Who, where and how results should be explained

While a few participants felt that they had no preference concerning the person who returned their results, the majority preferred the news to come from the original study researchers or doctors managing/treating their child:

“Yes. Or even the doctor because this child is going to Dr [name]. Even the doctor explain us it will be fine. I would be happy with that. Because the doctor knows everything of the child.” (Participant 13)

When participants were asked where they would like to receive feedback regarding their results, consensus was that they wanted to be told at the hospital where their child was attending and during an in-person session. For some, a negative result could be communicated telephonically but it was expressed that a face-to-face encounter, even with negative results, would alleviate anxiety and worry. A few participants additionally stated a distrust of technology and fear of breach of security if telephonic delivery was undertaken:

“The lines are never secured. You can’t say something is secured because even computers, cyber security, that’s big.” (Participant 10)

The value of a negative result

The majority of participants wanted to be contacted with a negative result for various reasons, including getting closure, for peace of mind, keeping calm, and to stay informed of research progress.

“Yes. I think that is as important. I think it’s more for peace of mind and also to … it’s just about us being included. Keep updated. A negative result is still a result.” (Participant 12)

For some individuals, receiving a negative result would bring reassurance that they and the researchers did the best they could, despite a lack of answers over what the meaning of the result may be or the lack of clinical utility.

“Just to let this whole thing come to fruition, I mean like, just have it being done and we … not that I would feel like this has all been for nothing. I mean, I’ve been educated about some subjects with regards to this, and I know what you do. And, ja I just think that I would be okay with even if they didn’t know anything, then at least I know that it’s over and that they’ve done all they could and that it’s still a mystery.” (Participant 1)

A sense of ownership over their blood and thus their results was also apparent:

“I prefer they must call me to tell me that. Because I’m going to sit like now, that year in Red Cross they take my blood and they say I didn’t know what they’re checking, I didn’t know if there’s anything that they found in my blood, but that is quiet. Nothing happen after that. I would like to … because it’s my blood, I would like to contact me and tell me even if they didn’t find anything.” (Participant 7)

Whilst many understood that researcher constraints, such as budget restrictions and the large number of participants enrolled in the study, may not allow for the feedback of negative results, they expressed their appreciation for such feedback.

“Yes, I would appreciate that. I do know however that there is a budget for all of this and that, I mean, there’s probably hundreds if not thousands of people enrolled in this thing, so it’s not imperative that they have to call if they don’t find a result. But if they are able to do so then, yes, I would appreciate getting a phone call.” (Participant 16)

Need for additional information from the result

Whilst participants reiterated that they were aware that only pertinent results would be returned, they continued to discuss the likely implications of non-causative or uncertain results. Many participants expressed their wish to receive all types of results, good or bad, including individual results that would be of significance to the health of their child (secondary findings):

“If it’s something that can affect him, then yes, we would want to know about it…And they pick up something else that’s not related, yes.” (Participant 5)

A few parents believed results would be indicative of their own personal health, also referring to secondary findings:

“Any. I can’t say I’m hoping for this, but any result that comes. Anything that they can find maybe some sicknesses in me or something maybe can … so that they can prevent it to other people…But if they can say the result is coming like this, this is something that we found that may cause your child to be like this, then I will accept it. The moment that they come with the result that says this is a condition we found but it’s not what caused this on your child. That will be fine too. And then I’m going to look forward to see how they’re going to maybe help it or treat it…Everything they find. Everything.” (Participant 7)

Others felt it would enable them to provide a better quality of life by being prepared and planning for their family’s future. The latter was also described by a participant in terms of his own health, possibly driven by personal fears of having passed the condition on to his child or related to the value of future planning (as a result of the knowledge gained from a secondary finding):

“Look, I mean if there is a result there’s a result. Obviously we have to know that. I’ve got dependents, five of them you know, so I would want to … if I’m going to die tomorrow or in a few years’ time I would like to have that quality of life. I don’t just want to leave them behind or whatever” (Participant 17)

Some participants seemed to prefer to receive information about all kinds of results, including ones that were not pertinent (such as VUS). They expressed the hope that those results could lead to further research that they could participate in.

“Maybe then someone else would come and try to take that further and then we can be involved in that study.” (Participant 1)

On the contrary, some were unsure about the usefulness of VUS information and expressed concern over the possibility of discovering new/other information, indicating a preference not to know about VUS results.

“I don’t know if I would want to know that part, because now you’re going to be sitting with this information and you’re thinking what could this be.” (Participant 16)