Table 3

Health professionals’ attitudes (perceived benefits and concerns) towards secondary findings

Content topicIllustrative quote
Perceived benefits
1. Improved prediction, prevention or early diagnosis of complex diseases for current patients“…and also I think it’s part of offering, it’s part of helping people to get healthier. If we can prevent things happening or help them earlier in the stage of something happening, I think it’s part of our duty to actually do that.” (Participant 7, consenter)
2. Opportunity to advance research“And as I said as we learn more we’re going to appreciate number one how people receive that information and the impact it has on them, sort of medically as well as socially, financially et cetera…. So yeah I think it’s just going to be a moving field and we’re going to learn from mistakes, but you know probably gain some of the understanding.” (Participant 18, non-genetic clinician)
3. Being responsive to what patients want“Yeah I think you know, if there’s something you can do about it, then I think that’s fine yes. I think a lot of people would want to know and they can be consented up front.” (Participant 22, genetic clinician)
Concerns
1. Evidence is lacking regarding the penetrance of variants identified incidentally“…the principle I think is sound but I think what we may find is that the penetrance of a lot of these things is not as high as we thought it was and that maybe if, if you ascertain somebody as a carrier of a pathogenic mutation completely incidentally what does that mean in terms of penetrance, I think we may be over, over estimating penetrance…” (Participant 13, genetic clinician)
2. Evidence is lacking regarding whether it is clinically useful to return secondary findings“I think they (secondary findings) should be done when it’s clinically necessary not just for the hell of it” (Participant 4, consenter)
3. Potential psychological impact of the results“…even when you do find your aneurism and… you tell them that their risk of developing something is very low but they tend to walk around thinking they’ve got a time bomb in their head anyway and the same [is] going to apply with genetics. Incidental findings as well probably much more so in fact.” (Participant 19, non-genetic clinician)
4. Non-genetic clinicians are not prepared to discuss secondary findings with patients“…if we were to offer this for routine clinical practice, you know, in a neurological hospital how can we possibly decide whether, you know, a mutation in a cancer gene is a polymorphism or real or what’s the risk you know? We cannot counsel patients on all these other things.” (Participant 21, non-genetic clinician)
5. Not clear what clinical recommendations for patients would be based on some secondary findings“I think in BRCA and the MMR gene there’s plenty of evidence out there. So you know you’d have to have [screening], so it needs to be recurrent mutations that are definitely associated and so what do you do then if you go and find something else. I don’t know whether these people should be on screening or not ” (Participant 9, genetic clinician)
6. More straightforward if secondary findings were not offered as part of genome sequencing in clinical practice“Yeah well again I would not treat this as any way different than to the clinical exome we do here or the exome we do on research. You look at the things that you are interested in.” (Participant 11, non-genetic clinician)