Primary care providers’ experiences with and perceptions of personalized genomic medicine

June C. Carroll; Tutsirai Makuwaza; Donna P. Manca; Nicolette Sopcak; Joanne A. Permaul; Mary Ann O’Brien; Ruth Heisey; Elizabeth A. Eisenhauer; Julie Easley; Monika K. Krzyzanowska; Baukje Miedema; Sandhya Pruthi; Carol Sawka; Nancy Schneider; Jonathan Sussman; Robin Urquhart; Catarina Versaevel; Eva Grunfeld

Article Figures & Data

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Table 1.

Demographic characteristics of participants (N = 51): Mean age of participants was 44 years (range 23 to 65).

CHARACTERISTICS	N (%)^*
Practitioner type
• FP	30 (59)
• Registered nurse	11 (21)
• Nurse practitioner	2 (4)
• Physician assistant	1 (2)
• Family medicine resident	4 (8)
• Medical student	1 (2)
• Other	2 (4)
Sex
• Female	34 (76)
• Male	11 (24)
No. of years in practice
• < 10	18 (42)
• 10–19	3 (18)
• ≥ 20	25 (40)

↵* Not all respondents answered all questions.

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Table 2.

Identified information and resource needs in personalized medicine

REQUIREMENTS	IDENTIFIED NEEDS
Information	Participating PCPs requested information on the following: mutations and genetic causes of cancer guidelines for screening and referral referral process with genetics clinics available genetic tests preventive treatment benefits of testing
Resources	Reliable, updated, non-biased information source Point-of-care tools (eg, EMR algorithms and decision support tools) Up-to-date Web-based resource (an app) Education sessions by FPs with expertise Patient handouts Resource within the clinic (eg, a nurse, nurse practitioner, or FP with expertise in genetics)

EMR—electronic medical record, PCPs—primary care providers.

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Table 3.

Examples of participant verbatim quotations

THEMES	PARTICIPANT QUOTATIONS
Infrequent experience with personalized medicine in primary care	“In practice, the only genetics I’ve come across would be the BRCA genes or in prenatal screening the cystic fibrosis as well comes up. So outside of that I’ve come across more the, the marketing advertisements for these companies that refer to it as well, whether I’ve seen advertisement on TV or hear it on a podcast or something and CBC Marketplace did a good comparison, a review of the different ones” (FP, FG5) “I think we’re seeing more and more people may come up and if we are not prepared, you know, that would be a disconnect in there. Because sometimes our patients are more knowledgeable about those things. And I think my best understanding is from the ads I see on TV, you know, in terms of ‘Send me your spit and we’ll tell you exactly how your life is going to shape up in the future.’ So, I’m sure we’re going to see more and more people, that they coming and talking about some genes or mutations that I am not even aware of it. So, that’s where I see the gap for me, because I have no training on any interpretation of any of those” (FP, FG1) “My experience and concern with genomics actually is to do more with kind of the field and where it’s heading, and sometimes I think that the whole genomics project is gonna to be very upfront on diagnosing or on identifying traits but very short on identifying interventions and so that’s going to create millions of profiles of people at risk for things with very little to offer them and I think the intervention’s gonna be, you know, 1 or 2 decades down the road. So what are the ethics of alerting all these people to shortfalls of their genetics and yet you can’t do anything about it and where does that information go and, you know, how do people handle it personally, right?” (FP, FG3)
PCPs’ lack of knowledge	“I would say that one of my concerns would be the volume of information that you’re talking about. I mean, you’re talking about 200 genetic tests and I maybe know about, you know, BRCA, and I know about a few other things and I know about the stuff we do prenatally and, boy, I’m probably missing an awful lot of stuff there” (FP, FG1) “In that particular instance or instances they came to me, the material [DTC-GT] was already done. I had nothing to do with organizing it or discussing it or counseling prior to that and it was not anything that they were particularly concerned about at that point ... I had no level of expertise that could help them identify … they were literally long lists of numbers with no qualifying information on the side” (FP, FG3) “And I think the scary ... scary might be too … but the scarier part of these testing and being able to do a full genetics panel is we’re not comfortable with these tests and we don’t know, necessarily know what to do with them, which makes it harder” (FP, FG1)
PCPs relying on personal experience	“I have to declare a little bit of a bias. As you were talking, I was thinking, ‘Oh, OK.’ I quite by accident found out in medical school that I am a heterozygote for α-1 antitrypsin deficiency ... so then you have to go talk to a geneticist to know what does this mean and then you realize there’s nothing that can be done about it. All that I did was at 25 years of age, find out I’m a heterozygote for something that might cause me lung disease and liver disease in the future, right, and I’ve lived for the last 30 years wishing I didn’t know about it” (FP, FG3) “Again referring back to this case, it wasn’t a doctor-patient relationship, it was a physician-physician or a friend relationship, and after many agonizing discussions, really it came back to, as we use the expression in [town name], ‘ice the puck back’ to the specialist, and even at that level, there was such a huge discrepancy in what was being advised—chemotherapy, surgery, preemptive surgery, whatever—that had that person not been a friend but had been a patient, I would absolutely have said, ‘I’m sorry, I don’t have that level of expertise,’ because even the super-duper specialists in Toronto at that time were not able to … I mean they obviously helped, there were lots and lots of discussions, but the definitive answer was not … there wasn’t a definitive answer given” (FP, FG3)
PCPs’ perception of inevitable involvement in personalized medicine	“But I think that it is inevitable that we will get pulled into this. If my patient comes in and they’ve sent the test off and the result is sitting there in front of me, I’m going to have to deal with it however I figure out how to deal with it. I don’t think I’ll have a choice” (FP, FG1) “You know, from a point of view of how we want to manage things versus what comes through the door, we don’t really have control over that, in the sense that if the patient decides that they’re—without necessarily having that conversation with their family doctor about the pros and cons, which [participant name] alluded to—if they’re not having that conversation and they’re just coming in to your office with it, I mean, you don’t really have that choice, in that respect, right? It’s arrived at your door and, and you therefore have to run with it … I mean, you know, if they have access to that, and they obtain it and they bring it to you because they trust your opinion, we have to have some sort of formulation in terms of how we’re going to deal with it” (FP, FG1) “The other thing I wanted to say, I know it’s a changing field, but so often our patients will get recommendations from an oncologist or genetic counselor, but they trust us and so they’ll come back to ask us to help them with decision making and so I’m not on top of what the current prophylactic regimen and being kept up to date on that would be good, you know” (FP, FG2) “Yeah, they’re the ones educating us because they come back and they say … they sometimes will say, ‘What do you think?’ And I actually don’t know but it sounds like the letter [genetics consultation letter] that I got, this is probably the best idea. You put it right back onto them, but a lot of your patients if you’ve been with them for 20 some years, they have a trust in you, even if they’re aware that you actually don’t have that knowledge they still want your opinion, right?” (FP, FG4)
Unfamiliar relationship with genetics specialists and clinics	“‘I just got this result back, what would you suggest doing?’ And that’s kind of the relationship we tend to develop with our specialists at the hospital anyways, since you usually have somebody you can call up and say, ‘I have no idea what to do next,’ but there’s no geneticist at [workplace name], so I’ve never … I don’t recall really calling the clinics very often because I do find that the feedback I get from them is pretty good, but if I was stuck it would be awesome to be able to call someone” (FP, FG1) “Yeah, I had a patient with severe osteoporosis since her early 40s and she came and she’s also a professor and she said, ‘Oh there is this testing they’re doing for hereditary testing for the patient.’ She gave me the information. That’s when I said, patients never come with any information right, so I do the referrals, send the referral, and the letter I got 2 weeks later ... ‘This testing is not available in Canada,’ and then … and then at the end of the letter, which I think is like a reprimand to me because that’s what I told the patient, but that’s what this specialist put in the letter, and it wouldn’t really have mattered even if there’s genetic testing for osteoporosis, it will not change the management of this patient .... I thought that was harsh … we’re managing her osteoporosis, but what are we going to do about the information whether you have the gene or not, so not only I was told it’s not available, but how would that change the management?” (FP, FG4)
PCPs’ role in personalized medicine	“I think one of the first things would probably be proper identification of those patients that are appropriately sent to genetics or should be sent towards genetics, and so when we’re reviewing family histories, having a good understanding as to who should be appropriately refer[red], or who’s appropriately referred and who doesn’t require that, that potential step of genetic referral. And yeah, so I think, I think we play a fairly handy role from that perspective and similarly, although the discussion about the increased or modified screening might take place at the genetics clinic, it usually warrants some further discussion with a patient’s primary care provider and then frequently we are the ones who are then implementing and monitoring that, ensuring that” (FP, FG5)
New models of care and resources	“If I had a way—and [participant name] alluded to it earlier—of taking a really refined family history and, yeah maybe there’s a callback that has to happen afterwards or a follow-up appointment or more information gathering or whatever, that if I knew how to do that and then I had some very clear guidelines of what should trigger my genetics referral, then maybe I wouldn’t end up sending off somebody that I didn’t really think they needed genetics testing but I wanted confirmation right now that I’m not missing something, which I’m probably doing right now, because I’m not 100% sure all the time. So …” (FP, FG1) “If I have a site I can go quickly read, so if someone asks me, then I can always say, OK, well, I’ll look it up and get back to you.” (FP7) “Or you can read it together there, yeah, it’s more just having a place to know that they’re, the information’s there and available and reliable.” (FP2) “And up to date as well .... Because it’s obviously evolving quickly, so if you know of some place that is actually actively managing their website so you can say, OK, if I go here, I’m going to find out what’s new from 2 months ago, not from 2 years ago .... Yeah, I think that would be good.” (FP5) “And what’s actually available here ….” (FP2) “Locally” (FP4) (FG4) “I’m kind of app friendly for that kind of thing, if there was something either online or downloadable where it was a simple, you know—menu-driven kind of informational thing so that there’s a decision-making algorithm. I don’t mean like a comprehensive database, a decision algorithm, just you know, along those lines anyways” (FP, FG3)