Table 3.
Quotes
| Number | Quote | Participant |
|---|---|---|
| Quote 1 | “Maybe, at random, we could find something and when we find something that we are sure of, we will tell you. [… ] But we won’t actively look for it.” | FG 8 - P9 Clinical laboratory geneticist |
| Quote 2 | “There is a filter in accordance with the ACMG recommendations, but it is not used as standard. [ … ] It takes considerable human capacity to analyse those things and currently it is not included in our routine-protocol, to look at those things as standard.” | FG 7 - P7 Clinical laboratory geneticist |
| Quote 3 | “The reporting of variants where even we don’t know whether they mean anything, is the equivalent to reporting non-information which might make a patient despair or ask for an impossible follow-up. [… ] So I think we have a responsibility as professionals not to go that far.” | FG 2 - P10 Clinical laboratory geneticist |
| Quote 4 |
A: “The example would be, in theory, because now we wouldn’t see it, eh, Huntington’s disease, if you see that, at whatever age, should you transmit [report] it? So far, the answer is no. [… ] And any other change for which you have nothing to offer to the patient, we don’t report.” […] B: “But you can have Parkinson’s, Alzheimer’s … with a point mutation, for example.” A: |
FG 1 A = P5, Clinical geneticist B = P1, Clinical geneticist |
| Quote 5 | “[… ] and then, during the next pregnancy, they would find out that their child has Duchenne … You don’t want to have this [kind of situation], whereas we have seen it during a previous [test], for example in their daughter. So currently, we don’t work with an opt-out, to avoid this kind of thing. And I’ve never met a family who had problems with this [practice].” | FG 2 - P2 Clinical geneticist |
| Quote 6 | “[… ] so people have to decide between opt-in and opt-out, and I think it is very complex for people to be sufficiently informed about this choice. [… ] It’s hopeless, people can’t choose, well, most of them can’t. I mean, most people don’t have any background knowledge of genetics, so it is extremely difficult.” | FG 4 - P7 Psychologist |
| Quote 7 | “A possibility to choose … You cannot simply force someone, I mean, you can’t just … The aim of informed consent is to make a deliberate choice, so you have to give people the right information, so they can make a choice. I think that is the aim of informed consent.” | FG 6 - P1 Genetic counsellor |
| Quote 8 | A: “But, perhaps I don’t understand, if the patient chooses [an] opt-out, then we don’t report. [… ] If the patient chooses, and it’s clear, to opt out, then we don’t report.” | FG 3 A = P1, Clinical geneticist |
| B: “But I would anyway! [… ] I would say, the consequence of not reporting and maybe losing a parent, for example the [patient’s] mother very, very young … Those consequences are so important that I would choose to disregard the patient’s decision, I would note it down in the file that I choose to disregard, because [… ] I consider the consequence of not reporting to be worse than the consequences of reporting.” | B = P8, Clinical geneticist | |
| Quote 9 | “So generally, when we have an IF like that, most of the time there is a deliberation between the biologist [clinical laboratory geneticist] who is responsible for the analysis and the clinician [clinical geneticist] who validates the test. [… ] Sometimes, we even call upon external people, other centres, or people who have the right experience.” | FG 5 - P5 Clinical geneticist |
Abbreviations used: FG Focus group, P Participant, IF(s) Incidental finding(s), ACMG American College of Medical Genetics and Genomics