Essential Characteristics of Pharmacogenomics Study Publications

Thorn, Caroline F.; Whirl‐Carrillo, Michelle; Hachad, Houda; McDonagh, Ellen M.; Ratain, Mark J.; Relling, Mary V.; Scott, Stuart A.; Altman, Russ B.; Klein, Teri E.

doi:10.1002/cpt.1279

Cited by 9 publications

(7 citation statements)

References 46 publications

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“…Inclusion criteria for publications were meta-analyses, genome-wide association studies (GWAS), posthoc analyses, and clinical trials investigating the association between UGT1A1 and clinical outcomes (e.g., diarrhea, neutropenia, hyperbilirubinemia, elevated alanine aminotransferase (E-ALT), dosage changes, or drug discontinuation). Studies included in this review were chosen considering the relevant characteristics from Thorn et al [ 37 ].…”

Section: Methodsmentioning

confidence: 99%

UGT1A1 Guided Cancer Therapy: Review of the Evidence and Considerations for Clinical Implementation

Nelson

Seligson

Bottiglieri

et al. 2021

Cancers

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Multi-gene assays often include UGT1A1 and, in certain instances, may report associated toxicity risks for irinotecan, belinostat, pazopanib, and nilotinib. However, guidance for incorporating UGT1A1 results into therapeutic decision-making is mostly lacking for these anticancer drugs. We summarized meta-analyses, genome-wide association studies, clinical trials, drug labels, and guidelines relating to the impact of UGT1A1 polymorphisms on irinotecan, belinostat, pazopanib, or nilotinib toxicities. For irinotecan, UGT1A1*28 was significantly associated with neutropenia and diarrhea, particularly with doses ≥ 180 mg/m2, supporting the use of UGT1A1 to guide irinotecan prescribing. The drug label for belinostat recommends a reduced starting dose of 750 mg/m2 for UGT1A1*28 homozygotes, though published studies supporting this recommendation are sparse. There was a correlation between UGT1A1 polymorphisms and pazopanib-induced hepatotoxicity, though further studies are needed to elucidate the role of UGT1A1-guided pazopanib dose adjustments. Limited studies have investigated the association between UGT1A1 polymorphisms and nilotinib-induced hepatotoxicity, with data currently insufficient for UGT1A1-guided nilotinib dose adjustments.

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Section: Methodsmentioning

confidence: 99%

UGT1A1 Guided Cancer Therapy: Review of the Evidence and Considerations for Clinical Implementation

Nelson

Seligson

Bottiglieri

et al. 2021

Cancers

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“…They also serve as a reminder of the conflicting nature of results obtained from candidate gene studies and the need to perform additional manual curation when using databases such as PharmGKB. Last, to improve the ease of curation, pharmacogenomic publications should attempt to adhere to the standardized and structured format that has been specifically recommended for these studies …”

Section: The Genetics Of Ciomentioning

confidence: 99%

“…Last, to improve the ease of curation, pharmacogenomic publications should attempt to adhere to the standardized and structured format that has been specifically recommended for these studies. 20 Harnessing the power of unbiased genomic scans…”

Section: The Genetics Of Cio Candidate Gene-based Approachesmentioning

confidence: 99%

Pharmacogenomics of Cisplatin‐Induced Ototoxicity: Successes, Shortcomings, and Future Avenues of Research

Drögemöller

Wright

et al. 2019

Clin Pharma and Therapeutics

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Cisplatin is a highly effective chemotherapeutic. Unfortunately, its use is limited by cisplatin‐induced ototoxicity (CIO). Substantial research has been performed to uncover the genetic variants associated with CIO; however, there has been a lack of consistency in the results that have been reported. This paper aims to provide an overview of the current state of CIO genomics research, delving into the shortcomings of past research, and providing recommendations for future avenues of study.

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“…Only CPIC discussed and published standardized data to identify PGx terms for allele functions and associated phenotypes. Moreover, the improvement in standardization was furthered as SNOMED CT incorporated the standardized terms created by CPIC [67,68]. The final study we reviewed was a guideline to model PGx CDSS into an ONC initiated HeD schema.…”

Section: Discussionmentioning

confidence: 99%

The Inclusion of Health Data Standards in the Implementation of Pharmacogenomics Systems: A Scoping Review

et al. 2020

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Background: Despite potential benefits, the practice of incorporating pharmacogenomics (PGx) results in clinical decisions has yet to diffuse widely. In this study, we conducted a review of recent discussions on data standards and interoperability with a focus on sharing PGx test results among health systems. Materials & methods: We conducted a literature search for PGx clinical decision support systems between 1 January 2012 and 31 January 2020. Thirty-two out of 727 articles were included for the final review. Results: Nine of the 32 articles mentioned data standards and only four of the 32 articles provided solutions for the lack of interoperability. Discussions: Although PGx interoperability is essential for widespread implementation, a lack of focus on standardized data creates a formidable challenge for health information exchange. Conclusion: Standardization of PGx data is essential to improve health information exchange and the sharing of PGx results between disparate systems. However, PGx data standards and interoperability are often not addressed in the system-level implementation.

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Essential Characteristics of Pharmacogenomics Study Publications

Cited by 9 publications

References 46 publications

UGT1A1 Guided Cancer Therapy: Review of the Evidence and Considerations for Clinical Implementation

UGT1A1 Guided Cancer Therapy: Review of the Evidence and Considerations for Clinical Implementation

Pharmacogenomics of Cisplatin‐Induced Ototoxicity: Successes, Shortcomings, and Future Avenues of Research

The Inclusion of Health Data Standards in the Implementation of Pharmacogenomics Systems: A Scoping Review

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