Patients’ Perspectives of Factors That Influence Pharmacogenetic Testing Uptake: Enhancing Patient Counseling and Results Dissemination
Abstract
:1. Introduction
2. Materials and Methods
2.1. Participant Recruitment
2.2. Data Collection
2.3. Data Analysis
3. Results
3.1. Participants
3.2. Motivating Factors
3.2.1. Wanting Better Medication Options
“I really didn’t know the reactions [of] some of the medicines that I take, … what they consist of and the reactions that my body has. … [With testing] I would know how it’s going to affect me and affect my body.”(Black/African descent, non-Hispanic female, age 61)
“I really wanted to know how certain medicines will affect my body when I’m taking them and it feels like it would give me an extra sense of relief to know a little bit beforehand before I start medicine. … [With] most medicines I get all of the side effects.”(Black/African descent, non-Hispanic female, age 24)
“I had several conditions. I take a lot of medication. And if they can find certain medicines that are optimal for me and get rid of some of the other ones, that’d be great. Because I take about seven different medications. So, if we can reduce that and narrow it down, that’d be fantastic.”(White/European descent, Hispanic male, age 50)
3.2.2. Receiving a Clear Explanation about the Testing
“Not understanding is what makes it so scary. … Knowledge is power, you know? You can make your own decisions now and say, ‘Well, could we look for something else?’ … Take charge of your own treatment. … The doctor will explain to you in just a certain way, but if you don’t speak med-ish, then sometimes you’re left behind, just with this look in your face, like, ‘What did he just say?’ You need a dictionary sometimes.”(White/European descent, Hispanic male, age 50)
“Explain [it] in detail, … how it helped others … like [use] examples on how the pharmacogenetic testing helped others and see the response to the medicines. … I feel like the only reason it would make me not want to [do the testing] is if you didn’t explain it more in detail or if it wasn’t explained in detail of how it would benefit that person.”(Black/African descent, non-Hispanic female, age 24)
“I would say, … how long it takes to get the results because you may need the medication sooner than the results get back and then that has a lot to do on whether or not you take the medicine. … Because if I need the medicine now and the results take a couple of weeks, then I’m just going to take the medicine and then deal with the results later.”(Mixed race, non-Hispanic female, age 45)
3.2.3. Valuing or Having an Interest in Science or Medicine
“I’m always looking to do my part in helping … research [to] come up with a better way of doing things. And the feedback is one of the ways I could help by participating. My responses can be helpful in the long run for the research. … If I could be a help for anyone else by providing that feedback, that’s what I wanted to do.”(Black/African descent, non-Hispanic male age 44)
“My biggest reason is I’m always curious about science. So, I’m curious how my medication can help the conditions that I have. I had several conditions. I take a lot of medication.”(White/European descent, Hispanic male, age 50)
3.2.4. Having Misconceptions about Testing Results
“I want to know what could be a possible side effect for me compared to my genetics. … I was at the hospital. … my blood pressure was like 200 and something over 200. … And I couldn’t tell you today what made it rise that high. I don’t know. … I have to say that it could be genetics. … It’s a whelm of things that could happen and we don’t know.”(Black/African descent, non-Hispanic female, age 62)
“There’s a genetic test that they want me to do now in the ophthalmologist’s office. They say that certain people with a certain genetic code are predisposed to lattice degeneration of the eye. So, if that’s the case, then maybe, you know, we can find out if my son has the same genetic code and is predisposed to the same thing and you could prevent it before his retina detaches. Mine detached and it’d be great to prevent it. … So, anything like that, you know, because I’m already at a certain age, but if this can help my son, somebody else in this capacity, then it’s worth it.”(White/European descent, Hispanic male, age 50)
3.3. Preferences for Results Dissemination
3.3.1. Having Results in a Sharable Format
“If [the results] helps them diagnose me quicker or more effectively, because they have a better understanding of what’s in my genetic makeup. … I would think that they would relay it through the notes that they send to the other doctor, so that they would be apprised of it before I go, so that I don’t have to explain a lot of stuff.”(Mixed race, non-Hispanic female, age 45)
“They need to know because [it] could be them in [the] same situation one day. … I would explain it definitely to my family. I would show them the graph and everything too, so that they could know if you go to the doctor, something’s going on. You could say, ‘Well, my mother had this genetic makeup probably from her parents.’”(Black/African descent, non-Hispanic female, age 62)
“I would’ve liked the results to have come to me. … Granted, I don’t have MD behind my name, but I do have enough wherewithal and knowledge and degrees to understand stuff that I read or to go research it if it’s something I don’t know. … [Sharing] with the portal is another way that you can give more in-depth detail, where the person can read it. … I can read it then I can always come back to it.”(Mixed race, non-Hispanic female, age 45)
“The more specific and the more, not simple, but the more detail they put in it, the more it is. Because like I said, I can get lost really easy. … And the bigger the words that they use, the harder it is for me.”(White/European descent, Hispanic female, age 48)
3.3.2. Having a Clinical Appointment
“I just want him to break it down easily so I can understand. … He’s going to be more informational than a pamphlet and he’s going to break it down. And I want him to just take his time and break it down to me.”(Black/African descent, non-Hispanic female aged 51)
“She [clinician] went in detail and explained it [PGx results] to me. … One of the main things was just knowing certain medications that we were talking about then that were actually on it and it was describing how it would affect me. So, I liked that it was already some medicines that I was taking that I was able to know if it was good for my body at that moment.”(Black/African descent, non-Hispanic female, age 24)
“That way [having an appointment] if something was said that I didn’t understand, I can get clarity, versus someone sending me an electronic communication that just tells me, ‘Here’s your results.’ But if it’s something on there that I didn’t understand, I would have to reply to it and then wait for someone to get back to me. And the unknown is nerve-racking.”(Black/African descent, non-Hispanic male, age 44)
4. Discussion
5. Limitations
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Characteristic | N = 13 |
---|---|
Age (years) | 45.1 (±13.0) |
Female | 10 (76.9) |
Race | |
Black/African Descent | 8 (61.5) |
White/European Descent | 4 (30.8) |
Other or Mixed Descent | 1 (7.7) * |
Hispanic/Latino | 4 (30.8) |
Employment | |
Full time | 4 (30.8) |
Disabled | 5 (38.5) |
Retired | 1 (7.7) |
Homemaker Student | 1 (7.7) 1 (7.7) |
Health Literacy | |
Extremely Uncomfortable | 0 (0) |
Very Uncomfortable | 0 (0) |
Somewhat Uncomfortable | 0 (0) |
Neutral | 4 (30.8) |
Somewhat Comfortable | 3 (23.1) |
Very Comfortable | 5 (38.5) |
Extremely Comfortable | 1 (7.7) |
Income | |
<$25,000 | 5 (38.5) |
$25,001–50,000 | 2 (15.4) |
$50,001–$75,000 | 0 (0.0) |
$75,001–100,000 | 0 (0.0) |
$>100,000 | 1 (7.7) |
Don’t know/refused to answer | 5 (38.5) |
Education | |
Some high school | 1 (7.7) |
High school/GED | 2 (15.4) |
Some college, specialized training, or technical school | 8 (61.5) |
Master’s Degree | 1 (7.7) |
Doctoral degree | 1 (7.7) |
Values are expressed as mean (±SD) or N (%) |
Gene/Genotype | N = 13 |
---|---|
CYP2C19† (tested for *2, *3, *4, *6, *8, *10, *17) | |
*1/*1 | 5 (38.5) |
*1/*17 | 4 (30.8) |
*17/*17 | 1 (7.7) |
*1/*2 | 2 (15.4) |
*2/*17 | 1 (7.7) |
CYP2C9‡ (tested for *2, *3, *5, *6, *8, *11) | |
*1/*1 | 10 (76.9) |
*1/*3 | 2 (15.4) |
*1/*6 | 1 (7.7) |
CYP2D6§ (tested for *10, *2, *17, *41, *3, *4, *6, *9, *8, *7, *29, copy number) | |
*1/*1 | 2 (15.4) |
*1/*17 | 1 (7.7) |
*1/*2 | 2 (15.4) |
*1/*4 | 1 (7.7) |
*1/*4 + duplication | 1 (7.7) |
*1/*5 | 1 (7.7) |
*2/*2 | 1 (7.7) |
*2/*4 + duplication | 1 (7.7) |
*2/*17 | 2 (15.4) |
*2/*29 | 1 (7.7) |
CYP3A5 (tested for *3, *6, *7) | |
*1/*1 | 2 (15.4) |
*1/*3 | 3 (23.1) |
*1/*6 | 2 (15.4) |
*3/*3 | 4 (30.8) |
*6/*7 | 2 (15.4) |
SLCO1B1¶ (tested for *5) | |
*1/*1 | 12 (92.3) |
*1/*5 | 1 (7.7) |
CYP2C Cluster (tested for rs12777823) | |
G/G | 10 (76.9) |
A/G | 3 (23.1) |
CYP4F2 (tested for *3) | |
*1/*1 | 8 (61.5) |
*1/*3 | 5 (38.5) |
VKORC1 (tested for 1639G > A) | |
G/G | 8 (61.5) |
A/G | 5 (38.5) |
Values are expressed as N (%) |
Patients Are Motivated to Undergo Testing When They | To Attend to These Concerns/Interests: |
---|---|
want better medication options | the impact of medications on their body needing optimal medications for themselves |
receive a clear explanation about testing | what PGx testing is the logistical feasibility of testing privacy concerns |
value or have an interest in science/medicine | having scientific or medical curiosity wanting to contribute to science or research |
have misconceptions about results addressed | identifying genetic predispositions—results that can be shared information with family members |
Patients Want to ReceivePGx Testing Results via | For These Reasons |
---|---|
a sharable format | to promote better care management across providersto share results with family membersto understand and digest information on their ownto receive more detailed results |
a clinical appointment(in-person, telemedicine, phone) | to explain the meaning of results to discuss the relevance of results to current medicationsto ask questions about their PGx testing results |
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Share and Cite
Bagautdinova, D.; Lteif, C.; Eddy, E.; Terrell, J.; Fisher, C.L.; Duarte, J.D. Patients’ Perspectives of Factors That Influence Pharmacogenetic Testing Uptake: Enhancing Patient Counseling and Results Dissemination. J. Pers. Med. 2022, 12, 2046. https://doi.org/10.3390/jpm12122046
Bagautdinova D, Lteif C, Eddy E, Terrell J, Fisher CL, Duarte JD. Patients’ Perspectives of Factors That Influence Pharmacogenetic Testing Uptake: Enhancing Patient Counseling and Results Dissemination. Journal of Personalized Medicine. 2022; 12(12):2046. https://doi.org/10.3390/jpm12122046
Chicago/Turabian StyleBagautdinova, Diliara, Christelle Lteif, Elizabeth Eddy, Joshua Terrell, Carla L. Fisher, and Julio D. Duarte. 2022. "Patients’ Perspectives of Factors That Influence Pharmacogenetic Testing Uptake: Enhancing Patient Counseling and Results Dissemination" Journal of Personalized Medicine 12, no. 12: 2046. https://doi.org/10.3390/jpm12122046