Table 2 Congruency between clinician communication and participant understanding of an uncertain result

Female in her 60s who had early-onset breast cancer

“We found a change in your genes that may help explain why you developed breast cancer at a young age and may help explain your family history…but none of us feels it explains the whole story.”

“I learned that I had one—I had a gene that was variant—variation in it … It’s BARD. BARD1…. I understood them to say they couldn’t tell me that that definitely caused it, but that could have been a contributing factor to it.”

Middle-aged male with cardiomyopathy

“We did identify something which we say has potential diagnostic value [long discussion about reasons the result is uncertain]…We really don’t know whether this variant is related…this gene has been associated, but we don’t know about this particular change.”

“It wasn’t a negative, but it’s not truly a positive detection either…I didn’t really consider it a positive diagnosis. So for me it was kind of “Yeah. I got a maybe.” It’s nothing really to worry about yet. Again I’d like to meet with the doctor and discuss the results and see if in his mind it’s anything.”

Middle-aged woman with neurological problems

“Your results came back solidly in that maybe category. So we do have something to share with you today which is a possible answer for what’s going on, but there’s simply not enough data yet about what we found to know for sure that it’s an answer.”

“To me it seems unlikely that this gene could be causative because I looked at patient advocacy groups’ information, some of the clinical reports online of people who have this very specific type of hereditary motor neuropathy, and it seems like most of the cases typically are very progressive in nature, which doesn’t really seem to match up with my symptoms, although there’s a lot of heterogeneity between cases even within families. So it looks like it now has sort of an incomplete penetrance as well so I guess there could be potentially some multiple phenotypes that could come arising from this one particular mutation, but it’s hard to explain…that’s kind of a mixed bag as far as what the result means.”

Elderly male with neuropathy

“The bottom line is it does not look like we found a reason for your neuropathy. We are reporting out one variant but I want to emphasize very strongly that I and the rest of the team do not feel that this is what’s responsible for it. We report it out because it just barely squeaked into the category ‘Well, maybe we ought to report this out.’”

“Big question mark. Unknown. Remains unknown. There may or may not be a mutation of one or more genes contributing to the inherited peripheral neuropathy. There may, but there’s no indication that for sure that that is the cause…[This result] means to me that the science is still vague.”

Mother of daughter with congenital malformations

“What we found is a possible explanation for [child’s] underlying condition…We can’t say this is for sure an explanation, in part or mainly because this particular change isn’t something that’s been seen before… Although this [report] is written as uncertain….I think that it is quite likely that this change explains [your daughter’s] underlying condition.”

“So the research said she most likely has it, or it’s questionable…It’s a new mutation. Since it’s not been reported they cannot say for sure…[The clinician] explained it to us why he thought it’s most likely that she would have it even though it was just a possible. He actually was very, very helpful in helping us understand why it’s different, not something they’d seen before. So those are all things maybe that we wouldn’t have known if they just gave it to us. He did take time to explain all of those to us.”

Mother of young son with multiple neurodevelopmental problems

“We found a possible explanation for [your son’s] issues. I can by no means say this is the answer. I think that doing some more investigation will help. It would help at some point to get you and [son’s] father’s blood so we can compare some things…(and) I think it makes a lot of sense for him to be seen by [his pediatric geneticist] with this result in mind.”

“[The clinician] said that it’s definitely no slam dunk, but that me and dad being tested would help it, but also for me to go online and look at what this syndrome entails and the whole symptoms and them things and see how I thought it fit [my son]. And so he said that no one would know better what [son] goes through day to day than me, but when I looked I definitely think that there’s something there to even talk further to [pediatric geneticist] about.”