Table 1 Illustrative free-text responses.
From: Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
Experiences of pre- and post-test counseling | |
Received enough information about test before agreeing (comments only requested from “no” or “unsure”) | |
No | “It was at a very emotional time…. I agreed to the testing hoping for a result that would indicate my child’s sudden illness.” [full survey; diagnostic urES] |
Received enough information to understand result (comments only requested from “no” or “unsure”) | |
No | “A written ‘plain English’ summary of the findings, however minute, would have been appreciated.” [short survey; diagnostic urES] |
Unsure | “It was an extremely emotional meeting…. It’s hard to take in…information in the circumstances.” [short survey; diagnostic urES] |
Change how test offered or result explained (comments only requested from “yes”) | |
Yes | “The results were given to me over the phone when I was alone…which was quite distressing.” [full survey; diagnostic urES] |
Yes | “…we were in a room with at least 6 or 7 medical professionals…. It was extremely overwhelming.” [short survey; diagnostic urES] |
Yes | “I don’t believe we had enough time with the genetic counselors.” [short survey; nondiagnostic urES] |
Yes | “Going into the testing we thought they were going to be looking at any possible disease however they ended up just testing for one disease, so I guess it wasn’t explained the best way at the start.” [full survey; nondiagnostic urES] |
Decision regret (0 = no decision regret; 1–25 = mild decision regret; >25 = moderate to high decision regret) | |
0 | “We did find a rare recessive gene caused our [child’s] health issue, which is so helpful for [their] future health care and also our family planning decisions.” [full survey; diagnostic urES] |
0 | “Although we didn’t get an explanation…we’re happy to be involved in the testing anyway.” [full survey; nondiagnostic urES] |
0 | “If it wasn’t for the testing [our child’s] diagnosis would have been too late and [they] wouldn’t be here with us today.” [full survey, diagnostic urES] |
5 | “Although it was a distressing diagnosis it has helped to know what we are facing.” [full survey, diagnostic urES] |
25 | “The outcome was very heartbreaking but what we needed so that we could take care of & help keep [our child] comfortable.” [short survey; diagnostic urES] |
35 | “Even though I am happy that we know what my [child] has and that we can manage our expectations of [their] life I am sad that these tests are not offered in utero when we would have had other choices.” [full survey, diagnostic urES] |
75 | “It has given me no answers only makes me question and second guess my parenting…I am supposed to enjoy this time with my child not regret.” [full survey, diagnostic urES] |
Perceived value of rapid test | |
Perceived level of importance of rapid result | |
Very important | “It was important to us that [our child] didn’t suffer any longer than [they] had to, which meant not unnecessarily prolonging [their] life.” [short survey; diagnostic urES] |
Very important | “Knowing quickly what [our child] had prepared us with what’s to come and managed our expectations better and allowed us time to grieve while [our child] is little and hopefully won’t notice our disappointment.” [full survey; diagnostic urES] |
Very important | “There is so much angst waiting for results and this is compounded by caring for a very sick child. Having the tests come back so quickly lifted an incredible weight and stress from our shoulders.” [full survey; nondiagnostic urES] |
Very important | “EXTREMELY IMPORTANT. Our [child] lived for 6 months and typically it can take months even years to find the right diagnosis.” [short survey; diagnostic urES] |
Perception whether rapid result made a difference to child’s care | |
Yes | “[Our child] was diagnosed with a couple of issues earlier as it was a possible symptom of [their] genetic mutation so the doctors knew what to look for.” [full survey; diagnostic urES] |
Yes | “…it allowed the medical teams to then re-evaluate and determine what they would do next.” [short survey, nondiagnostic urES] |
Unsure | “[The diagnosis] meant that our child did not have to undergo a biopsy to confirm diagnosis which would have been risky due to [their] medical status at the time and obviously much more invasive.” [full survey; diagnostic urES] |
Unsure | “It confirmed the expected diagnosis so it didn’t change treatment.” [full survey; diagnostic urES] |
No | “As no concrete known gene variant was conclusive, there was no information to act on to alter/improve my child’s condition.” [short survey; nondiagnostic urES] |
Post-test reproductive planning | |
Extremely concerned; aRR <1%; pRR 5% | “I’m petrified of more. I can’t bear the thought of it happening again.” [short survey; diagnostic urES] |
Extremely concerned; aRR 25%; pRR 25% | “…all other children have a 1 in 4 chance of inheriting it…which is terrifying.” [short survey; diagnostic urES] |
Extremely concerned; aRR unknown; pRR 50% | “Not knowing why [our child] was so sick has troubled our thinking about future children.” [short survey; nondiagnostic urES] |
Extremely concerned; aRR <1%; pRR 3% | “Ruling out known genetic causes for our [child]’s condition has given us the confidence to plan for future children.” [full survey; nondiagnostic urES increased confidence of infectious cause] |
Not concerned; aRR <1%; pRR 5% | “The test ensured that we and our first child were not carriers of the gene which gives us hope that our next child will be typical and not affected.” [full survey; diagnostic urES] |
Moderately concerned; aRR <1%; pRR 2% | “We are still uncertain due to the care needs of our first born.” [full survey; diagnostic urES] |
Extremely concerned; aRR unknown; pRR 25% | “We still have no resolution, therefore we still aren’t sure about expanding our family.” [full survey; nondiagnostic urES] |
