Validation of a Multi-Gene qPCR-Based Pharmacogenomics Panel Across Major Ethnic Groups in Singapore and Indonesia

Kothary, Anar Sanjaykumar; Mahendra, Caroline; Tan, Mingchen; Tan, Eunice Jia Min; Yi, Jacelyn Phua Hong; Gabriella,; Jocelyn, Tan Xin Hui; Haruman, Jessline Stephanie; Tan, Zhihao; Lee, Chun Kiat; Lezhava, Alexander; Yan, Benedict; Irwanto, Astrid

doi:10.2217/pgs-2021-0071

Cited by 2 publications

(2 citation statements)

References 35 publications

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“…Limited studies described their experience with implementing PGx testing in healthcare settings in Singapore, with one describing the feasibility to implement preemptive PGx implementation in a primary care setting with all genotyped patients have at least one actionable PGx variants (Smith et al, 2022). In our study, the multigene panel was curated specifically to include alleles that were pertinent to Asian populations with a minor allele frequency >1% based on East Asians, South Asians, and Europeans obtained from the PharmGKB database (Kothary et al, 2021). The expected TAT of PGx testing was set at 5 business days because a long TAT may potentially lead to treatment delays.…”

Section: Discussionmentioning

confidence: 99%

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Implementation of Pre-emptive Pharmacogenomics Testing in Outpatient Clinics in Asia (IMPT study)

Ng,

Verma,

Sani

et al. 2024

Preprint

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Background: In view of the limited data related to preemptive pharmacogenomics (PGx) testing in the primary care setting, we designed a study to assess the feasibility of implementing preemptive PGx services at outpatient clinics, with the aim to assess the practicality and challenges of implementing preemptive PGx testing within primary care, and its impact on clinical workflows and patient care. Methods: This prospective study was conducted between October 2022 and August 2023 at five outpatient clinics located in Singapore. Patients aged 21 to 65 with a reported history or risk of developing any of the target chronic conditions or any patients receiving one of the 29 PGx-associated medications were recruited. Patients' buccal samples were processed using the Nala RxReady, a multi-gene qPCR-based panel of 21 allele variants of five pharmacogenes. Surveys were administered to study participants and clinicians to assess their perceptions and outcomes related to PGx testing. Results: Among the 222 patients, 95% had at least one clinically actionable variant. Of these patients, 113 reported taking at least one of the 29 studied drugs, with 21.2% of them receiving at least one clinically actionable recommendation based on their PGx results. A total of 150 patients (67.6%) participated in the post-test follow-up survey. Among them, 70% expressed feeling relieved and happy upon receiving their test reports and reported increased confidence in taking their prescribed medication. Furthermore, clinicians identified the necessity for clearer legal regulations regarding PGx testing and insurance coverage to enhance future adoption of PGx testing. Conclusions: Given a high prevalence of clinically actionable variants in almost all tested patients, this study underscores the feasibility and clinical benefits of preemptive PGx testing in primary care clinics.

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Section: Discussionmentioning

confidence: 99%

“…Buccal samples were collected using OraCollect•DNA (DNA Genotek) under the supervision of trained clinic staff. (Kothary et al, 2021).…”

Section: B) Patient Recruitmentmentioning

confidence: 99%

Implementation of Pre-emptive Pharmacogenomics Testing in Outpatient Clinics in Asia (IMPT study)

Ng,

Verma,

Sani

et al. 2024

Preprint

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Methodology for clinical genotyping of CYP2D6 and CYP2C19

Henriques

Buchner

et al. 2021

Transl Psychiatry

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Many antidepressants, atomoxetine, and several antipsychotics are metabolized by the cytochrome P450 enzymes CYP2D6 and CYP2C19, and guidelines for prescribers based on genetic variants exist. Although some laboratories offer such testing, there is no consensus regarding validated methodology for clinical genotyping of CYP2D6 and CYP2C19. The aim of this paper was to cross-validate multiple technologies for genotyping CYP2D6 and CYP2C19 against each other, and to contribute to feasibility for clinical implementation by providing an enhanced range of assay options, customizable automated translation of data into haplotypes, and a workflow algorithm. AmpliChip CYP450 and some TaqMan single nucleotide variant (SNV) and copy number variant (CNV) data in the Genome-based therapeutic drugs for depression (GENDEP) study were used to select 95 samples (out of 853) to represent as broad a range of CYP2D6 and CYP2C19 genotypes as possible. These 95 included a larger range of CYP2D6 hybrid configurations than have previously been reported using inter-technology data. Genotyping techniques employed were: further TaqMan CNV and SNV assays, xTAGv3 Luminex CYP2D6 and CYP2C19, PharmacoScan, the Ion AmpliSeq Pharmacogenomics Panel, and, for samples with CYP2D6 hybrid configurations, long-range polymerase chain reactions (L-PCRs) with Sanger sequencing and Luminex. Agena MassARRAY was also used for CYP2C19. This study has led to the development of a broader range of TaqMan SNV assays, haplotype phasing methodology with TaqMan adaptable for other technologies, a multiplex genotyping method for efficient identification of some hybrid haplotypes, a customizable automated translation of SNV and CNV data into haplotypes, and a clinical workflow algorithm.

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Validation of a Multi-Gene qPCR-Based Pharmacogenomics Panel Across Major Ethnic Groups in Singapore and Indonesia

Cited by 2 publications

References 35 publications

Implementation of Pre-emptive Pharmacogenomics Testing in Outpatient Clinics in Asia (IMPT study)

Implementation of Pre-emptive Pharmacogenomics Testing in Outpatient Clinics in Asia (IMPT study)

Methodology for clinical genotyping of CYP2D6 and CYP2C19

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