Table 2

Health professionals’ attitudes (perceived benefits and concerns) towards moving genome sequencing into clinical practice

Content topicIllustrative quote
Perceived benefits
1. Improved diagnoses for patients“obviously we will get lots more diagnoses and that’s good, I think that’s good for everyone… and I think it helps, it helps for counselling, prevention, this type of things” (Participant 16, non-genetic clinician)
2. Contributions to knowledge base“It’s a technology that gives us access to, you know, vast quantities of information and if we as clinicians and scientists are able to interpret that in a meaningful way… and the more information we gather, then the easier it should be to interpret because we’ve got so many comparisons and so much more data to base our decisions on.” (Participant 18, non-genetic clinician)
3. Improved treatments for future patients“…so if we can really correlate the clinical information with the genetic information and find these markers that will allow this personalised treatment, then we have a big step forward….” (Participant 11, non-genetic clinician)
Concerns
1. Lack of evidence“I think it’s too early to know whether or not (whole genome sequencing) should become a routine part of clinical practice. I think we’ve now got sufficient evidence that whole exome sequencing can be very useful clinically… my own view is that we shouldn’t roll out whole genome sequencing clinically until we have objective scientific evidence that it’s superior to whole exome sequencing.” (Participant 14, genetic clinician)
2. Informed consent“What concerns me is that every single member of the 100 000 genomes team has said to me that it’s an hour to do the full consent process… I think most clinicians don’t have an hour spare to be going through that with patients… I think it’s very difficult for clinicians to do that genetic counselling. I don’t think it will be done particularly well, because it certainly won’t, it will be a 5 min process.” (Participant 17, non-genetic clinician)
3. Resources for analysis and interpretation“It takes a lot of lab time to look at the data, it takes a lot of clinician time, to prepare the cases for a multidisciplinary team meeting” (Participant 13, genetic clinician)
4. Interpretation and disclosure of results“I think the problem is that other doctors think they’re trained but I don’t think they are… I’m much less confident about explanations of results… one sees all the time problems that arise because of that so results are over interpreted… so I am a bit worried about that kind of thing. Because I already see it…” (Participant 13, genetic clinician)