Nine-gene pharmacogenomics profile service: The Mayo Clinic experience

Matey, Eric T.; Ragan, Ashley Kate; Oyen, Lance J.; Vitek, Carolyn R. Rohrer; Aoudia, Stacy L.; Ragab, Ahmed K.; Fee-Schroeder, Kelliann C.; Black, John L.; Moyer, Ann M.; Nicholson, Wayne T.; Shrestha, Sofia; McAllister, Tammy M.; Sinnwell, Jason P.; Faubion, Stephanie S.; Lazaridis, Konstantinos N.

doi:10.1038/s41397-021-00258-0

Cited by 20 publications

(19 citation statements)

References 28 publications

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“…Similar to our investigation, other investigators evaluated DGIs using linked prescription and genetic data and have reported between 1% and 73% of patients experienced a clinically significant DGI 10,24,25,29–33 . The wide variability in reported clinically significant DGIs can likely be attributed to differences in the evaluated genes and medications, as well as the population demographics of the cohorts.…”

Section: Discussionsupporting

confidence: 77%

“…Similarly, an evaluation of prescribing incidence among US payers identified 50% of patients received at least one prescription with a PGx guideline over a 4‐year period, whereas an assessment of the Estonia Biobank found 37% of patients had a PGx prescription as of March 2019 23,24 . In a clinical proof‐of‐concept PGx testing project, 56% of participants who were genotyped on a nine‐gene panel received at least one of up to 35 medications with clinical guidance 25 . These studies all had more limited medication lists than was included in our analysis, notably not including PPIs or NSAIDs, which did not have a CPIC guideline when these studies were completed.…”

Section: Discussionmentioning

confidence: 99%

“… 23 , 24 In a clinical proof‐of‐concept PGx testing project, 56% of participants who were genotyped on a nine‐gene panel received at least one of up to 35 medications with clinical guidance. 25 These studies all had more limited medication lists than was included in our analysis, notably not including PPIs or NSAIDs, which did not have a CPIC guideline when these studies were completed.…”

Section: Discussionmentioning

confidence: 99%

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Identifying the prevalence of clinically actionable drug‐gene interactions in a health system biorepository to guide pharmacogenetics implementation services

Pasternak

Ward

Irwin

et al. 2022

Clinical Translational Sci

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Understanding patterns of drug‐gene interactions (DGIs) is important for advancing the clinical implementation of pharmacogenetics (PGx) into routine practice. Prior studies have estimated the prevalence of DGIs, but few have confirmed DGIs in patients with known genotypes and prescriptions, nor have they evaluated clinician characteristics associated with DGI‐prescribing. This retrospective chart review assessed prevalence of DGI, defined as a medication prescription in a patient with a PGx phenotype that has a clinical practice guideline recommendation to adjust therapy or monitor drug response, for patients enrolled in a research genetic biorepository linked to electronic health records (EHRs). The prevalence of prescriptions for medications with pharmacogenetic (PGx) guidelines, proportion of prescriptions with DGI, location of DGI prescription, and clinical service of the prescriber were evaluated descriptively. Seventy‐five percent (57,058/75,337) of patients had a prescription for a medication with a PGx guideline. Up to 60% (n = 26,067/43,647) of patients had at least one DGI when considering recommendations to adjust or monitor therapy based on genotype. The majority (61%) of DGIs occurred in outpatient prescriptions. Proton pump inhibitors were the most common DGI medication for 11 of 12 clinical services. Almost 25% of patients (n = 10,706/43,647) had more than one unique DGI, and, among this group of patients, 61% had a DGI with more than one gene. These findings can inform future clinical implementation by identifying key stakeholders for initial DGI prescriptions, helping to inform workflows. The high prevalence of multigene interactions identified also support the use of panel PGx testing as an implementation strategy.

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Section: Discussionsupporting

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Identifying the prevalence of clinically actionable drug‐gene interactions in a health system biorepository to guide pharmacogenetics implementation services

Pasternak

Ward

Irwin

et al. 2022

Clinical Translational Sci

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“…Pharmacogenomic (PGx) testing is increasingly entering mainstream clinical practice and is of great interest to patients and providers [ 1 ]. Numerous healthcare systems are implementing PGx programs [ 2 , 3 , 4 , 5 , 6 , 7 , 8 ], and statewide initiatives to implement PGx testing are also underway [ 9 , 10 ]. As the clinical utility and uptake of PGx has grown, conversations about PGx have shifted from “should we do PGx testing?” to “how should we best implement PGx testing?” As guideline-producing groups, such as the Clinical Pharmacogenetics Implementation Consortium [ 11 ], develop recommendations for how to best apply the scientific evidence, and as clinicians and implementation scientists [ 12 ] develop best practices for clinical implementation, there is one critical voice that must be heard: the patient.…”

Section: Introductionmentioning

confidence: 99%

A Scoping Review of Attitudes and Experiences with Pharmacogenomic Testing among Patients and the General Public: Implications for Patient Counseling

Allen

Pittenger

Bishop

2022

JPM

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The use of pharmacogenomic (PGx) tests is increasing, but there are not standard approaches to counseling patients on their implications or results. To inform approaches for patient counseling, we conducted a scoping review of published literature on patient experiences with PGx testing and performed a thematic analysis of qualitative and quantitative reports. A structured scoping review was conducted using Joanna Briggs Institute guidance. The search identified 37 articles (involving n = 6252 participants) published between 2010 and 2021 from a diverse range of populations and using a variety of study methodologies. Thematic analysis identified five themes (reasons for testing/perceived benefit, understanding of results, psychological response, impact of testing on patient/provider relationship, concerns about testing/perceived harm) and 22 subthemes. These results provide valuable context and potential areas of focus during patient counseling on PGx. Many of the knowledge gaps, misunderstandings, and concerns that participants identified could be mitigated by pre- and post-test counseling. More research is needed on patients’ PGx literacy needs, along with the development of a standardized, open-source patient education curriculum and the development of validated PGx literacy assessment tools.

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“…For example, a recent proof-of-concept study by the Mayo Clinic found that pre-emptive use of basic pharmacogenomic testing, alongside participants’ medication history, enabled pharmacists to offer medication improvement opportunities in 56% of participants. 44 Some of the medications involved in the study (e.g., ondansetron, metoprolol, aripiprazole, sertraline, and phenytoin) have been documented as being part of the ISS medication kit. 27 Thus, pre-flight genomic screening could potentially be used to inform medication management and personalized medicine approaches to spaceflight countermeasures.…”

Section: Considerations For a European Space Research Routine Omics P...mentioning

confidence: 99%

Routine omics collection is a golden opportunity for European human research in space and analog environments

et al. 2022

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Nine-gene pharmacogenomics profile service: The Mayo Clinic experience

Cited by 20 publications

References 28 publications

Identifying the prevalence of clinically actionable drug‐gene interactions in a health system biorepository to guide pharmacogenetics implementation services

Identifying the prevalence of clinically actionable drug‐gene interactions in a health system biorepository to guide pharmacogenetics implementation services

A Scoping Review of Attitudes and Experiences with Pharmacogenomic Testing among Patients and the General Public: Implications for Patient Counseling

Routine omics collection is a golden opportunity for European human research in space and analog environments

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