Dataset Information

Clinical pharmacogenomics: patient perspectives of pharmacogenomic testing and the incidence of actionable test results in a chronic disease cohort.

ABSTRACT:

Aim

This study aimed to examine pharmacogenomic test results and patient perspectives at an academic cardiovascular medicine clinic.

Patients & methods

Test results for three common cardiovascular drug-gene tests (warfarin-CYP2C9-VKORC1, clopidogrel-CYP2C19 and simvastatin-SLCO1B1) of 208 patients in the Ohio State University-Coriell Personalized Medicine Collaborative were examined to determine the incidence of potentially actionable test results. A post-hoc, anonymous, patient survey was also conducted.

Results

Potentially actionable test results for at least one of the three drug-gene tests were determined in 170 (82%) patients. Survey responses (n = 134) suggested that patients generally considered their test results to be important (median of 7.5 on a 10-point scale of importance) and were interested (median of 7.3 on a 10-point scale of interest) in a Clinical Pharmacogenomic Service.

Conclusion

Attitudes toward pharmacogenomic testing were generally favorable, and potentially actionable test results were not uncommon in this cardiovascular medicine cohort.

SUBMITTER: Mukherjee C

PROVIDER: S-EPMC5696621 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Clinical pharmacogenomics: patient perspectives of pharmacogenomic testing and the incidence of actionable test results in a chronic disease cohort.

Mukherjee Chandrama C Sweet Kevin M KM Luzum Jasmine A JA Abdel-Rasoul Mahmoud M Christman Michael F MF Kitzmiller Joseph P JP

Personalized medicine 20170901 5

<h4>Aim</h4>This study aimed to examine pharmacogenomic test results and patient perspectives at an academic cardiovascular medicine clinic.<h4>Patients & methods</h4>Test results for three common cardiovascular drug-gene tests (warfarin-<i>CYP2C9-VKORC1</i>, clopidogrel-<i>CYP2C19</i> and simvastatin-<i>SLCO1B1</i>) of 208 patients in the Ohio State University-Coriell Personalized Medicine Collaborative were examined to determine the incidence of potentially actionable test results. A post-hoc, ...[more]

PMID: 29181084

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Project description:BackgroundIn recent years, there has been increasing evidence supporting the role of germline pharmacogenomic factors predicting toxicity for anticancer therapies. Although somatic genomic data are used frequently in oncology care planning, germline pharmacogenomic testing is not. This study hypothesizes that comprehensive germline pharmacogenomic profiling could have high relevance for cancer care.MethodsBetween January 2011 and August 2020, patients at the University of Chicago Medical Center were genotyped across custom germline pharmacogenomic panels for reasons unrelated to cancer care. Actionable anticancer pharmacogenomic gene/drug interactions identified by the FDA were defined including: CYP2C9 (erdafitinib), CYP2D6 (gefitinib), DPYD (5-fluorouracil and capecitabine), TPMT (thioguanine and mercaptopurine), and UGT1A1 (belinostat, irinotecan, nilotinib, pazopanib, and sacituzumab-govitecan hziy). The primary objective was to determine the frequency of individuals with actionable or high-risk genotypes across these 5 key pharmacogenes, thus potentially impacting prescribing for at least 1 of these 11 commonly prescribed anticancer therapies.ResultsData from a total of 1586 genotyped individuals were analyzed. The oncology pharmacogene with the highest prevalence of high-risk, actionable genotypes was UGT1A1, impacting 17% of genotyped individuals. Actionable TPMT and DPYD genotypes were found in 9% and 4% of patients, respectively. Overall, nearly one-third of patients genotyped across all 5 genes (161/525, 31%) had at least one actionable genotype.ConclusionsThese data suggest that germline pharmacogenomic testing for 5 key pharmacogenes could identify a substantial proportion of patients at risk with standard dosing, an estimated impact similar to that of somatic genomic profiling.Lay summaryDifferences in our genes may explain why some drugs work safely in certain individuals but can cause side effects in others. Pharmacogenomics is the study of how genetic variations affect an individual's response to medications. In this study, an evaluation was done for important genetic variations that can affect the tolerability of anticancer therapy. By analyzing the genetic results of >1500 patients, it was found that nearly one-third have genetic variations that could alter recommendations of what drug, or how much of, an anticancer therapy they should be given. Performing pharmacogenomic testing before prescribing could help to guide personalized oncology care.

Project description:BackgroundA frequently used feature of electronic patient portals is the viewing of test results. Research on patient portals is abundant and offers evidence to help portal implementers make policy and practice decisions. In contrast, no comparable comprehensive summary of research addresses the direct release of and patient access to test results.ObjectiveThis scoping review aims to analyze and synthesize published research focused on patient and health care provider perspectives on the direct release of laboratory, imaging, and radiology results to patients via web portals.MethodsPRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed. Searches were conducted in CINAHL, MEDLINE, and other databases. Citations were screened in Covidence using the inclusion and exclusion criteria. Primary studies that focused on patient and health care provider perspectives on patient access to laboratory and imaging results via web portals were included. An updated search was conducted up to August 2023. Our review included 27 articles-20 examining patient views, 3 examining provider views, and 4 examining both patient and provider views. Data extraction and inductive data analysis were informed by sensitizing concepts from sociomaterial perspectives, and 15 themes were generated.ResultsPatient perspectives (24 papers) were synthesized using nine themes: (1) patterns of use and patient characteristics; (2) emotional response when viewing the results and uncertainty about their implications; (3) understanding test results; (4) preferences for mode and timing of result release; (5). information seeking and patients' actions motivated by viewing results via a portal; (6) contemplating changes in behavior and managing own health; (7) benefits of accessing test results via a portal; (8) limitations of accessing test results via a portal; and (9) suggestions for portal improvement. Health care provider perspectives (7 papers) were synthetized into six themes: (1) providers' view of benefits of patient access to results via the portal; (2) effects on health care provider workload; (3) concerns about patient anxiety; (4) timing of result release into the patient portal; (5) the method of result release into the patient portal: manual versus automatic release; and (6) the effects of hospital health information technology system on patient quality outcomes.ConclusionsThe timing of the release of test results emerged as a particularly important topic. In some countries, the policy context may motivate immediate release of most tests directly into patient portals. However, our findings aim to make policy makers, health administrators, and other stakeholders aware of factors to consider when making decisions about the timing of result release. This review is sensitive to the characteristics of patient populations and portal technology and can inform result release framework policies. The findings are timely, as patient portals have become more common internationally.

Project description:ImportanceThe 21st Century Cures Act Final Rule mandates the immediate electronic availability of test results to patients, likely empowering them to better manage their health. Concerns remain about unintended effects of releasing abnormal test results to patients.ObjectiveTo assess patient and caregiver attitudes and preferences related to receiving immediately released test results through an online patient portal.Design, setting, and participantsThis large, multisite survey study was conducted at 4 geographically distributed academic medical centers in the US using an instrument adapted from validated surveys. The survey was delivered in May 2022 to adult patients and care partners who had accessed test results via an online patient portal account between April 5, 2021, and April 4, 2022.ExposuresAccess to test results via a patient portal between April 5, 2021, and April 4, 2022.Main outcomes and measuresResponses to questions related to demographics, test type and result, reaction to result, notification experience and future preferences, and effect on health and well-being were aggregated. To evaluate characteristics associated with patient worry, logistic regression and pooled random-effects models were used to assess level of worry as a function of whether test results were perceived by patients as normal or not normal and whether patients were precounseled.ResultsOf 43 380 surveys delivered, there were 8139 respondents (18.8%). Most respondents were female (5129 [63.0%]) and spoke English as their primary language (7690 [94.5%]). The median age was 64 years (IQR, 50-72 years). Most respondents (7520 of 7859 [95.7%]), including 2337 of 2453 individuals (95.3%) who received nonnormal results, preferred to immediately receive test results through the portal. Few respondents (411 of 5473 [7.5%]) reported that reviewing results before they were contacted by a health care practitioner increased worry, though increased worry was more common among respondents who received abnormal results (403 of 2442 [16.5%]) than those whose results were normal (294 of 5918 [5.0%]). The result of the pooled model for worry as a function of test result normality was statistically significant (odds ratio [OR], 2.71; 99% CI, 1.96-3.74), suggesting an association between worry and nonnormal results. The result of the pooled model evaluating the association between worry and precounseling was not significant (OR, 0.70; 99% CI, 0.31-1.59).Conclusions and relevanceIn this multisite survey study of patient attitudes and preferences toward receiving immediately released test results via a patient portal, most respondents preferred to receive test results via the patient portal despite viewing results prior to discussion with a health care professional. This preference persisted among patients with nonnormal results.

Dataset Information

Clinical pharmacogenomics: patient perspectives of pharmacogenomic testing and the incidence of actionable test results in a chronic disease cohort.

Aim

Patients & methods

Results

Conclusion

Publications

Clinical pharmacogenomics: patient perspectives of pharmacogenomic testing and the incidence of actionable test results in a chronic disease cohort.

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