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Table 4 Respondents’ reflection on how type of result influences participant reactions to results

From: Clinical providers’ experiences with returning results from genomic sequencing: an interview study

Type of result Importance Illustrative quote(s)
Positive diagnostic results End to the genomic odyssey, relief to have an answer, disappointment and worry about the prognosis, frustration or disappointment because of limited information and resources available. “I can see them relax in the room…it is a relief to understand what is going on” (E02)
“[the mother] had become very happy with this sort of slow steady progress her daughter was making…. not knowing kind of meant there was no cap on how far and how well her daughter could do. All of a sudden, getting a diagnosis, it surprised even her that her reaction was kind of, oh crap, is there now going to be a limitation?” (F02)
“Oftentimes we think we have the answer for a patient’s symptoms, but because the condition is so rare …the answer isn’t wrapped up neatly… so while folks are excited to get an answer, sometimes it’s frustrating because they expected an answer to open things up to new treatment or contacts with parents who have kids who have the same disease or just a wealth of information that they would be able to unlock.” (F03)
Secondary results Curiosity, confusion, misinterpretation, information overload when identified.
Relief or disappointment when not identified.
“I would say our most common participant reaction is, ‘Oh that’s really cool’. They really think it’s interesting they’re excited. They say it satisfies their curiosity… our patients they self-select… They want the information. They’re really enthusiastic for it.”(B01)
“But, returning secondary results is different than a diagnostic result or a result in which someone has a family history of it, which they have context that can apply to the result. In these results, they don’t have any context, unless perhaps they’ve seen someone or met someone with it...” (J01)
“The incidental findings have been unique in our population because I think they are already dealing with such a crisis that for many of them, I actually worry more about the fact that they’re not going to follow up on the incidental finding in the context of everything else that’s going on.” (D03)
Uncertain diagnostic results Confusion about implications for medical care and risk assessment, tolerance of ambiguity. “They say, ‘Wait a minute. Regardless of what this is, you say you found this gene. This gene’s causing cardiomyopathy. How can I say this isn’t part of his problem?’ We’re looking at them and we’re like, ‘Yeah, you’re right. We don’t know.’” (I01)
“I think it’s a tolerance of ambiguity issue more than a trust issue. I think some people have a greater tolerance of ambiguity than others.” (C02)
No diagnostic results Disappointment, unmet expectations, confusion, acceptance, or relief of no diagnostic results. Parents who go to internet, who talk about this, read about this, they think that with this we can find a cure, we can find a magic change. I think that’s abuse of this technology, by companies and many physicians as well.” (D02)
“Because that has really been their experience so far within the genetics community, that often they have felt like an unsolved mystery, so it’s not a surprise to them not to get a complete and clear answer from one test.” (F03)
“They weren’t psychosocially ready for a diagnosis and I think that they had children who weren’t profoundly delayed, and had some hope that their children maybe didn’t have the issues that they had, that they would grow out of them. They were actually quite happy with a negative result because they weren’t quite ready to accept the challenges in place.” (E03)