Table 2.

Participants’ Expressed Benefits of Receiving a Diagnosis

Benefit of Diagnosis	Exemplary Quote
Changes in Medical Care
Additional screening recommendations	“So they knew that they needed to keep digging and look to see if he did or didn’t have it. And after more imaging they found he indeed did have one more condition.”
Guiding treatment decisions	“Her diagnosis is [specific mutation] and so using that as the starting point for medicines and things like that gave us a way to start moving forward, like what medicines to start her on.”
Re-direction to palliative care	“Having the diagnosis and knowing that it was something that was not treatable almost, you know, gave my wife and I that closure to know that it was OK for us to explore that aspect of the care as well… We’re not giving up on him. We know what’s wrong with him and we’re making the best decision we can based on that information.”
Personal Utility
Chance to find information and support	“It just helped me do some research online and I found a whole support group from it.”
Preparation for the future	“We know exactly what kinds of things she has, what kinds of doctors we need to check with, and what kinds of things to expect in the future.”
Recurrence risk information	“And from what I received or from what I got was that it would not necessarily affect any kids that we would have in the future so that was a little bit relieving.”
Removal of guilt	“I know that now it wasn’t anything I had done, and it was just a fluke. That helps me get through.”