Table 6 Quotes illustrating Understanding of OPBT

Q19

R7, 50% risk, male, 50–60

“I am assuming that if you doubt [the result] (…), you could measure again, then you could probably deduce whether it has become worse or not. Depending on how you test of course, it could be that the test just says: yes or no, but I am assuming that there is a certain degree or value in it.”

Q20

R1, known carrier, female, 30–40

“I think it would be nice to get tested more often, so that you also know exactly how it is developing and how bad you can expect the symptoms to get. I think that those blood tests can tell you better than that it is visible from the person.”

Q21

R8, known carrier, female, 40–50

“Look, I have a mutation and so I have been making less protein than you all my life (…) Yes, but from the moment of conception I have been becoming ill, only it [the symptoms] still just has to happen.”

Q22

R25, 50% risk, female, 40–50

“I would become very insecure. Yes, I would then feel that I am deteriorating (…) if it [the OPBT result] is beyond the normal range, then I would feel ill.”

Q23

R24, 50% risk, male, 30–40

“[Receiving a positive OPBT result] is a different conversation than: ‘We see symptoms now and it has started’ (…) It’s the difference between ‘reckoning with’ and ‘you are ill’.”