Table 5 Respondents’ reflections on challenges of returning genomic results and methods used to address challenges

Multiple results

Re-iteration and restating results. Open ended questions to assess understanding. Multiple sessions. Follow up communication.

“I think probably the biggest challenge is when you have a lot of results on the report, going through those all in one session. I think sometimes there have been sessions where I’ve given back a diagnostic and an incidental finding in one session and frankly, I just feel like that overwhelms the families….The other part is we’ve noticed over time that the families aren’t really engaged in the sessions and they’re not asking a lot of questions.” (D03)

Unmet expectations

Explore and set realistic expectations in the consent session.

Acknowledgment and validation of feelings of disappointment and frustration.

“We try to tell them, we’re not going to give up the search, and we’re going to remain curious about their child, and I think that winds up helping alleviate some of that tension that they know that someone’s still interested in their child, even though there was a negative result”. (E02)

“They [patients] may have some unrealistic expectations about what exome sequencing or genome sequencing would be able to tell them. That the future would be predicted and that it may be difficult to ground them in the reality of what we know and what we don’t know.” (C02)

Uncertainty

Review of current limitations in genomic knowledge.

Reassurance that communication pathways are open and updates may be available.

“Some of these are novel variants that have not been seen before. It’s really hard to help patients understand sometimes that we aren’t 100% sure that if a child were to inherit this gene change along with another gene change in that gene ... First of all, if they would have disease and second of all, where they would be on the spectrum…. I think they have a lot of assumptions about how clear and concrete all of medicine, if not genetics, really should be.” (C01)

Unanticipated Results

Facilitate feelings of empowerment to have this knowledge. Ability to seek early screening and prevention or plan for the future

“Navigating that surprise and trying to present it as both good news in a way - that is, ‘we didn’t cause this, and you have this, and it’s really good we now know about it’. But it doesn’t make for a good day, to get an incidental result, even if it in reality is a good thing to know about.” (F01)

Communication of results with family members

Encourage reflection of this in the consenting session.

Make a plan in the disclosure session.

“We spend a lot time talking about that, trying to anticipate the benefits and the downsides of sharing information with particular family members. Trying to anticipate how that’s going to make my patient feel…..A lot of people, they are information seekers, they want all their family members to be tested and sometimes it’s really hard for them to cope with the fact that their family members may be dismissive of this information. We have to spend time talking about strategies for dealing with that. Understanding why their family members might feel that way” (B01)

Overwhelmed or not engaged

Anticipate, acknowledge, foster a relationship of ongoing communication and options for follow up conversations.

“Acknowledging their struggle and giving them space and giving them time and telling them that they don’t have to remember this all today and they don’t have to talk about all of this today, if they don’t want to.” (A02)

“I’ve listened to these conversations enough, so I do try to anticipate what they might ask and go ahead and put it out there, even if it’s something they might be uncomfortable with” (E02)

Provider’s expectations

Recognize one’s own biases and misconceptions.

Reassess one’s own at regular intervals.

“... Sometimes the most concerning results to you are not the ones for the patient.” (J01)

“I was struck by how much patients enjoyed the journey of the genome. They enjoyed understanding over time, rather than having everything ‘Oh here’s your test results. Bye bye.’ The thing that was most important about the genome was engaging the person over time”. (G03)