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Table 3 Themes identified from interviews

From: Utilizing a user-centered approach to develop and assess pharmacogenomic clinical decision support for thiopurine methyltransferase

Theme Comments from participants Example quotes
A. Healthcare providers’ views on pharmacogenomics clinical decision support
 1. The need for PGx-CDS for TPMT Physicians expected PGx-CDS to:
• Notify them about TPMT genetic mutations
• Provide clinical guidance
• Help patients avoid serious side effects
“I feel that every patient who is going to need mercaptopurine should have the genetic testing done and [PGx-CDS] is going to make it easier to interpret the enzymatic activity.” – pediatric oncologist B
“We know what the goal ANC [absolute neutrophil count] should be, but how much [of the regimen] we need to adjust, that is something the CDS can help [with].” – pediatric oncologist A
“[PGx-CDS] can help to make sure that we don’t start on a dose that’s too high that is going to cause significant myelosuppression.”- pediatric oncologist A
“There is a lot of fatigue [that] plays into mercaptopurine dosing, but to have something [such as PGx-CDS] that would function to coordinate and assimilate information into one place, it would decrease fatigue over time.” – adult oncologist B
 2. Impact of PGx-CDS on clinical workflow • PGx-CDS can be integrated into the workflow seamlessly since there is enough time to test and use genetic information prior to prescribing.
• Physicians expressed that they would value real-time, integrated PGx-CDS to help them with prescribing and genetic testing decisions.
“We don’t start mercaptopurine right away for the patient. Usually, it has a delay [phase 2 of treatment], so we usually have genetic test results before initiation mercaptopurine.” – pediatric oncologist C
“If [PGx-CDS] does not pop up until the very first time you are prescribing the medication, it might be too late because you’re ready to prescribe the medication.” – pediatric oncologist D
“I think the best way is when you are ordering the drug…[and] it is something that [is] right there in real-time [and] computer-based.” - adult oncologist A
 3. Lab testing preferences (genetic vs. enzymatic testing) • Physicians stated that they order genetic labs based on the standard of care; there is no policy or specific requirement.
• Physicians generally choose genetic or enzymatic testing based on the availability of tests at their hospital system and cost to the hospital and patients.
• Providers (n = 6) generally preferred genetic over enzymatic tests
“If I am going to reduce dosage, I don’t care that much about the phenotype [from the enzymatic test]. But if I have an abnormal genotype, [then] I absolutely want to know the enzyme activity. If it’s heterozygous, then I definitely want to know what the phenotype is.” – pediatric GI A
“There is no requirement from the VA, It [test order] is more just based on clinician preference.” – adult GI A
“Nowadays, [I] order genetic test[s] more often than enzymatic test[s].” – pediatric oncologist C
“Enzymatic test[s] can help figure [out] the phenotype results that might not be related to genotypes…” – pediatric oncologist C
 4. Perceived barriers to PGx implementation • Alert fatigue was the main concern with PGx-CDS
• A PGx-CDS that is in a separate software package from the EHR was described as a barrier to use.
“Alert fatigue is very real. [The EHR] is notorious in all of the alerts that pop up all the time and the inability for them to prioritize [alerts] is exhausting.” adult oncologist A
“The biggest issue would be if you were unable to get it [PGx-CDS] incorporated into the EHR and it was something external that you have to pull up.” – pediatric oncologist B
B. Important design features for PGx-CDS
 5. PGx-CDS content • Physiciansrequested that PGx-CDS include information about the:
 ◦ Patients’ genotype
 ◦ Patients’ phenotype
 ◦ Meaning of the correlation between genotype and phenotype
 ◦ Potential medication risks
 ◦ Dosing recommendation
 ◦ Supporting references
• Physicians expressed a desire to have all key information shown or readily accessible from the PGx-CDS screen to make their prescribing decision(s).
“I want to know the genotype and phenotype because the heterozygote case is the one that is more complicated.” – adult GI A
“It would be nice not just to present the enzymatic activity but to have an interpretation of the metabolites to give the clinician an idea of this specific mutation, [and] what are the risks for patients.” – pediactric GI B
“If all stuff could get pulled out of their medical chart into this decision tool, you could retrospectively review all information, and it actually could be informative.” – pediatric oncologist B
 6. PGx-CDS display Physicians expressed a preference for:
• Concise presentation of information
• PGx-CDS that is intrusive (not passive). E.g., as a pop up displayed in the middle of the screen
• Lab values where trends across time can be easily viewed.
“Pediatric oncology is very different than the primary care provider; we have more time…. we prefer to have the information right there in front. We see patients for 2–3 years for mercaptopurine, we see them often.” – pediatric oncologist C
“Something [such as graphs] where you could actually see the trend and even a comment about adherence.” – pediatric oncologist D
“I will say on the pop-ups, they come right in the middle [of the screen], and that is probably the best… I will pay more attention to it if it’s in the middle.” – adult oncologist A
 7. References within PGx-CDS • Common resources that physicians currently use to find pharmacogenomic prescribing recommendations:
 ◦ Medical articles
 ◦ Protocols (e.g., from a clinical trial)
 ◦ UpToDate
“Even with the homozygous result, we follow the protocol of [the] clinical trial upfront.” – pediatric oncologist C
“I guess that [the idea of having reference information sent to your work email] would be helpful. In theory, you would only need to ever look at that once, but from an information standpoint, it would be handy to have it. That way people don’t have to search around.” – pediatric oncologist B
 8. Genetic result content Physicians generally requested that PGx-CDS:
• Provide a standard interpretation of genetic test results
• Inform providers when a patient’s genetic test results are available in the EHR.
• Provide reference ranges for lab results for comparison
“[An] alert [in the EHR] that tells the provider if the [genetic] test has been done or not [before prescribing] would be beneficial.” – pediatric oncologist E
“It is probably better to have it [genetic result] flagged in some way [to inform clinicians].” – Adult GI A
“It would be nice to have a little line [that] said, the control test was normal, so this is a valid result.” – pediatric GI A
 9. Display of patients’ genetic results Physicians offered several ideas about where to present patients’ genetic results in the EHR, including:
• in the heading of the patient profile
• on a new, pharmacogenomics tab
• in the EHR’s patient history as part of the prescription details for pharmacists to double check when dispensing medications.
“If someone was tested for [a] mutation and they were positive, if you could link [it] as an allergy, that would be good…”– adult oncologist A
“I don’t know it could go under ‘medications’ or ‘past medication history’ [in the EHR]. There is no good heading for it, but maybe [under] ‘allergies’ [section]. Those allergies are typically linked to [medications] when I am prescribing.” – pediatric oncologist 03
“If there is a pharmacogenomic tab that has not only TPMT but other [genetic results], that would be even better.” – adult GI B
C. Other
 10. PGx care coordination Physicians suggested that PGx-CDS provide:
• Options to follow up and coordinate genetic testing and results between healthcare providers
• A tool to help communicate with providers outside of their own healthcare system
• A tracking method within the EHR for outpatient care
“For all patients who have the TPMT testing done, there can be a form that can be sent directly to our pharmacists so [s/he] can keep track of all patients for better communication.” – pediatric oncologist D
“Lot[s] of times if we get referrals from elsewhere. They will often have the genotype performed, [and] we will use that information if we have it, but more often than not, we order it.” – pediatric GI A
“We get a lot of patients from the outside, so finding a way to capture the information from the outside would be helpful… If there were some way that the TPMT status can be documented in our system from whatever came from the outside, that would be good.” -adult GI A
 11. Examples of related software and CDS systems Physicians requested that PGx-CDS have similar functions and a format analogous to other CDSs currently implemented in their EHR “I have a software called VCM Chemo Manager that [is] built into the treatment plans. It does not force you to order them [lab tests], but it pops up [with alerts] when you go through the treatment plan.” – adult oncologist A
  1. Ped GI Pediatric Gastroenterology specialist, Adult GI Adult Gastroenterology specialist, EHR Electronic health record, PGx-CDS Pharmacogenomic clinical decision support