| Feeling compelled to disclose information |
Cascade testing |
‘ …we’re just anxious to start out with…that we had this tool, we could test people and that they could get some benefit from knowing the result if they were symptomatic and…it was difficult to withhold testing…’ CG4 |
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Prenatal testing |
‘I feel like I do have to tell them that this will be present in 50% [of potential future pregnancies] because they might go away and have prenatal for another reason and then we’ve had people that have been surprised that…it’s there again so I feel I do have to give them that 50% that it will be there…that we can do the testing for it…’ CG2 |
| Feeling overwhelmed by the volume of VUS and disempowered by results of uncertain clinical significance |
Coping involves changing clinical practice |
‘I think it’s also we’ve had to move from karyotype abnormalities which are less common and more pathogenic, as a stereotype, through to susceptibility things we can’t possibly manage the volume of …and so we’ve had to shift our practice according to that sort of reduced pathogenicity…’ CG5 |
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Turning uncertainty into an opportunity for hope |
‘I always feel with these results, that I don’t actually have good information to give them about their child’s future so I think this is in a way trying to move that into “we’re not able to help you now but we may be able to help you better in the future”’ CG4 |
| Concerned by perceived lack of control |
Trying to pre-empt the thoughts, feelings and actions of others |
‘…you don’t want them not wanting to go through another pregnancy because they’re worried about this occurring again, and so you’re emphasising that it may not be as severe next time because there are these other factors that may not be inherited necessarily next time, so they’re not sent away with this burden…’ CG3 |
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Feeling a sense of responsibility towards the family and actions of others |
‘…obstetricians might over-call a copy number change and we would have a…different understanding so we’re sometimes trying to put our little two bobs’ worth in, to sit along-side a more black and white view’. CG6 |
| Wanting to validate and normalise the patients’/families’ experiences |
Wanting to validate decisions |
‘might have gone, “gee we really, that sounds a terrible idea” you know, “we wouldn’t want to do that” and then…in the letter you’re backing up their decision, you’re validating their own decision, whereas if you had a couple that said, “there is no way in the world I would not have a test again for this”, you wouldn’t necessarily write “most people don’t undergo testing” you might say “this is a difficult decision but if you decide that that’s what you want we’re able to help you, or support you in that decision”’ CG4 |
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Wanting to normalise the experience |
‘…you often get a healthier parent with a microdeletion, an unhealthy child and a spouse to the parent who carries it, who may or may not have vindictive or emotional feelings about the fact that their child has this, and I think it’s important to try and say that there is an experience of these things that’s similar to your family in the medical literature and reports. For me it’s about normalising the family’s experience’. CG4 |
