Table 2 Themes reflected in physicians’ perspectives on unsolicited genomic results (UGRs)
From: Physicians’ perspectives on receiving unsolicited genomic results
Domains | Key themes | Representative comments |
|---|---|---|
Actionability | ● Physicians expect results to be actionable | “I wouldn’t be delighted to get results on someone who needed counseling about something that we couldn’t do anything about” (adult PCP 19) |
● Informing disease prevention, screening, and/or management | “I wouldn’t want all my patients having 100 tests done that I have to talk to them about and none of which have been proven to be good screening tests” (adult PCP 21) | |
●Importance of data/evidence-based actions | “They shouldn’t be testing them if they don’t...have strong data to support us surveilling them differently” (adult PCP 19) | |
●Importance of having a clear path, process, or standard of practice | “…as long as there was some understanding of standard of practice…If I felt like I'm as up to date as I can possibly be on what others are doing with these” (pediatric cardiologist 17) | |
Impact on patients | ● Enhanced screening and care | “As we get more and more of these and we start to develop these specialized clinics, like the high-risk breast clinic or the Lynch syndrome clinic, I think those are valuable resources” (adult oncologist 10) |
● Anxiety/regret | “This is just going to make them a little bit more sad, a little bit more anxious, a little bit more frustrated…feeling like there's this ominous shadow that's waiting ahead of them and not much that we can do for it” (adult/pediatric PCP 09) | |
● Unnecessary interventions, costs, and clinical disutility | “There’s the side effect of the next study which would be perfing someone’s colon who didn’t need a colonoscopy when their test was positive. Or heart catheterization when your calcium score or your genetic heart risk score was high” (adult PCP 22) | |
● Patients may become less insurable/genetic discrimination | “The military won’t accept people who have certain heart conditions and so what if you are at risk for that heart condition? …You don’t know how that information could get out if it’s part of their record and how it could affect things like job prospects, insurance, and stuff” (pediatric cardiologist 05) | |
● Consent issues regarding long-term impacts | “It’s hard to imagine that a person that’s 8 years old, or 5 years old or even 14 years old can…really understand what getting those results may mean for them long term” (pediatric cardiologist 06) | |
● Benefits to family members | “The real benefit of it is if we can get family members…treated or managed appropriately, too…it allows us to capture more people” (adult oncologist 10) | |
● False reassurance of health | “I think that the danger would be that patients would say, ‘oh, everything's cool, I don't have anything.’ Yet we're not at the point where we can really say that” (adult PCP 08) | |
Health care workflow | ● Time burden/previsit preparation | “Because it’s unsolicited, it would add a lot of kind of work, whether it’s phone calls or counseling or added time to our visits” (pediatric cardiologist 17) |
● Unreimbursed physician time | “If there are no RVUs associated, that’s going to get you in trouble with your boss, that you spent that extra time discussing this” (pediatric cardiologist 25) | |
● Insurance may not pay | “You show up with a cough, if I can bill [insurance] for that…but if you show up with an ACTA2 variant, no, and if I order an echocardiograph, I don’t know how they’re going to pay for that” (adult PCP 23) | |
● Impression that work is being unfairly imposed | “Just adds another burden to the general pediatrician and I think it’s not fair” (pediatric PCP 12) | |
● Physician liability | “We may find in 15 years that that results in 90% risk of X condition, but we don’t know yet, well are we going to somehow be liable because we didn’t tell them?” (pediatric oncologist 24) | |
Return of results process and support | ● Physicians expect clinical decision support | “I need someone to educate me on the front end, I need reimbursed time to sit with the patient, and then I need educated people on the back end to follow-up with the patient” (adult PCP 20) |
● Need for interpretation, an action plan, and guidance on referrals | “A script…this is the way to speak about these results…this is what this could mean, this is what it’s related to, and this is what to do next” (pediatric cardiologist 15) | |
● Direct access to consultants and specialists | “…not just like websites and stuff, but actually people you could talk to about if you wanted to do a face to face counseling or evaluation session” (pediatric cardiologist 17) | |
Responsibility for results | ● Whoever orders the test is responsible | “…if they’re saying this is important to know, that these are actionable, potentially actionable items, then, and they’re doing the tests, seems like this is their obligation to tell the patient what it means” (adult PCP 21) |
● Unclear who is responsible | “…there maybe a little bit of trouble like who’s, where’s the ownership and I don’t know how that might work” (pediatric oncologist 01) | |
● Physician feels personally responsible | “The problem is I feel like once that information is on my desk or in my, once I’ve seen it, I kind of feel like it’s my responsibility to follow it up” (adult PCP 20) | |
● Genetic specialist/ counselor responsibility | “The parents are going to want to know...what does this mean for the rest of my family?...genetic counselors, that’s what they do, so they should have that responsibility, not me” (pediatric PCP 12) | |
● Physician issues regarding responding to tests they did not order | “Having to give the information initially would upset me because I didn’t order this” (pediatric PCP 12) |
