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Table 1 Primary care provider (PCP) concerns about use of PRS information in their practice. The most cited concerns were overdiagnosis and overtreatment, lack of PCP time, and concerns over patient response

From: Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization

Concern

Illustrative quote

Overdiagnosis and overtreatment. (Particularly in the absence of evidence-based guidelines that establish whether the benefits outweigh the risks.)

“I think it biases patients towards doing something that is just a complete unknown. It’s potentially dangerous. People think of screening as being without danger and it’s just wrong.”

Ancestry limitation making it unclear the extent to which it would be useful for all

“You have a statement down here that these scores are best validated in people who are of European ancestry. So if I’m speaking to my African American patients, wow, I just told them that they’re disempowered . ...This is a bad tool for you, sorry. So that feels bad. And so I don’t like that idea a lot.”

(Question a patient might have) “So you told me that this isn't validated in individuals of non-European ancestry. Like what? Like how come you ran this test for me and what and why do you think that the findings apply?”

Link to health disparities

“For patients we have to worry about .. how much do I have to pay for this? ... I want to have this available for all our patients, if it’s gonna be there.”

PCPs were concerned about their own:

 Lack of time for interpreting results and responding to anxiety

“This is going to take a lot of time and it’s going to take a lot of energy and it’s going to take a lot of, I think, complex, nuanced understanding of what these bell curves mean and how they impact conversations with patients.”

 Insufficient understanding

“I don’t think I have the vocabulary or training to really be able to do this in an ethical or reasonable manner.”

 Legal liability if someone is “missed”

“If you send me information about a patient and I don’t act on it and it’s high risk... Now they come down with the disease and somebody goes back in the medical record and says, Dr, you missed it. You're liable. And I am.”

PCPs were concerned about their patients’:

 Anxiety, in particular unnecessary anxiety

“I can definitely picture the patient that will have some amount of a meltdown over these results and sort of figuring out how to manage that is going to be important.”

 False sense of reassurance

“I would worry that patients wouldn’t be able to interpret that the right way, like if they’re labeled high risk. I think that’s very easy for people to wrap their minds around. But if they’re labeled low risk by the polygenic screen, ... they might just take to heart that they're low risk, even though based upon family history or something else, they might be actually a higher risk.”

 Misinterpretation of results

“I think that it is complicated and I worry that patients might not interpret it correctly.”

 Insurability

“Do I decrease their chances of getting life insurance? Yes, because, you know, everything is so kind of transparent these days that even one thing in the chart can change so many things.”