1. Patient Experiences with Pharmacogenetic Testing in a Primary Care Setting Rachel Mills 1, Jivan Moaddeb 1, Nancy Allen Lapointe 2, Alex Cho 1,3, Shelby Reed 2,4, Geoff Ginsburg 1,3, S.B. Haga 1 1) Duke University Institute for Genome Sciences & Policy; 2) Duke Clinical Research Institute; 3) Duke University Department of Medicine; 4) Duke University Department of Economics Corresponding author: Rachel Mills, Duke IGSP, Box 90141, Durham, NC 27708; r.mills@duke.edu BACKGROUND: Genetic variation accounts for some individual differences in response to a number of drugs. Pharmacogenetic (PGx) testing may inform drug selection or dosing, thereby reducing the risk of adverse reactions and improving likelihood of response. Primary care physicians prescribe a large proportion of drugs, many known to be impacted by PGx variants. Thus, their patients may greatly benefit from PGx testing. However, at this time it is unclear how PGx testing may be most effectively integrated into the primary care setting. To address some of the barriers to the use of PGx testing such as provider knowledge and uncertainty about operational issues, we conducted a study to assess the impact of provider education and pharmacist support. As part of the larger trial, we assessed many aspects of the delivery of PGx testing including patient and provider perspectives. Here we report on the experiences of patients who underwent PGx testing as part of this study. PATIENT POPULATION: Eligible participants were patients at two participating outpatient clinics associated with Duke University Health System in Durham. PGx testing was ordered for 63 patients. Of those, 17 elected to complete the baseline survey; 12 of those completed the 3-month follow- up survey. 10/17 participants were female; 12/17 were White and 5/17 African American. 13/17 participants were 50 years or older 11/17 participants had at least a Bachelor’s degree 9/17 described their health as excellent or very good. RESULTS: Baseline survey (n=17) Respondents reported taking an average of 2.4 prescribed drugs (range 0-5). 9/17 respondents reported side effects from previous medications Most influential factors when deciding to have testing (Table 2): Understanding about how testing will help the doctor choose the best medicine Perceived value of the test in optimizing medicine treatment Doctor’s recommendations for testing STUDY DESIGN: This study aimed to evaluate two delivery models of PGx testing in a primary care setting: pharmacist-initiated and physician-initiated. In the pharmacist-initiated model, a pharmacist was based within the practice to screen patients prescribed one of the target drugs for which testing was made available through the study (Table 1) and to provide onsite consultation to providers. The physician-initiated model did not have a pharmacist on-hand, though one was available on-call; testing was initiated by the providers. Providers in both models made decisions about testing, interpreted test results, communicated results with patients and made decisions about continuing or changing drug therapy based on PGx results. Education: All participating providers were required to attend a 1- hour CME-accredited presentation about PGx. Printed resources were made available for providers and patients offered testing. PGx tests: Providers could order PGx testing for any new prescription of the eligible drugs (Table 1). Testing was performed at no cost to the patient or clinic by Mayo Medical Laboratories using a saliva sample. Patient surveys: After being offered PGx testing by their provider, patients were invited to complete a survey collecting demographic information, experience with prescription medication, and factors that influenced their decision to undergo PGx testing. Patients were surveyed again 3-months later to understand their experiences with testing and receiving results, their attitudes about and perceptions of PGx testing, and sharing of their PGx results. Other measures were assessed by these surveys, but we plan to report them elsewhere. Table1. Drugs eligible for PGx testing GeneTests ordered SimvastatinSLCO1B145 Atomoxetine CYP2D611 Codeine Fluoxetine Imipramine Nortriptyline Metoprolol WarfarinCYP2C9/ VKORC1 4 CelecoxibCYP2C92 ClopidogrelCYP2C191 Esomeprazole CarbamazepineHLA- B*1502 0 Total63 Table 2. Factors influencing decision to have testing Major factor Minor factor Considered but not a factor Did not consider Your understanding about how the test will help your doctor choose the best medicine for you 13121 Helpfulness in optimizing my medicine treatment 11312 Recommendations from your physician10502 Trust in test result6425 Your familiarity (knowledge) of the medicine6425 Worry about the possibility of side effects or needing to get another medicine 5345 Length of time you'll need to take the prescribed medicines (e.g. 1 week vs. indefinitely 4445 Concern about the privacy of my test result1349 Concern about having a genetic test ordered and reported by a non-genetics professional 21311 Concern about being prescribed a more expensive medicine based on test results 12311 Time to wait to learn of my test results11411 Family history of side effects or not responding to medicines 10412 Providing a DNA sample for testing01511 Potential discrimination based on my test result01412 If offered, 10/12 would have another PGx test for a different drug 5/12 shared their results with their spouse or partner 3/12 had not shared results with anyone 1/12 shared results with another healthcare provider When asked if they would be likely to share results with other prescribing providers, 11/12 said they were very likely to share In contrast, 5/12 said they would be very likely to share with a pharmacist Table 3. Topics discussed with return of resultsYesNo A description of what your genetic test results mean (for example, that you may break down drugs slowly) 52 Changes (or no changes) necessary for the medication based on results 43 Relevance of test result for other medications you currently take or may be prescribed in the future 34 Options for therapy based on the test results 34 The specific genetic results/gene changes 25 CONCLUSIONS: Patients are generally satisfied with PGx testing and believe it to be useful Physicians do no always report results nor are they consistent in post-test discussion of results  Additional research is needed to understand why, and to develop additional resources to standardize communication of results Though patients are willing to share results with other providers, few actually did  Patients should be informed of PGx results’ implications for other drugs and encouraged to share PGx results with other providers Overall, more effort is needed to clearly communicate PGx test results and their significance for current and future treatment This study was funded by the NIH (2R01GM081416-04). It is approved by the Duke University Health System Institutional Review Board (Pro00031122) and is registered at clinicaltrials.gov (NCT01600846). RESULTS: 3 month follow-up survey (n=12) 7/12 participants reported receiving results from their doctor 3/7 reported receiving them via email or mailed letter 2/7 reported receiving them over the phone with their doctor or a nurse, and 2/7 in- person at a follow-up appointment 5/7 discussed what the PGx results mean (for example, that you may break down drugs slowly) (Table 3) 10/12 reported no change being made to their medication 4/7 responded that they understood the results very well 9/12 were extremely satisfied with the decision to have testing 10/12 thought testing was very or somewhat helpful in their doctors’ decision-making regarding testing 4/12 reported definitely feeling more confident their medication would not cause side effects and would be effective after testing that (3/12 said somewhat, 3/12 unsure or no different, and 2/12 did not really feel more confident)