Pharmacogenomics Journal最新文献

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Clinical utility of pharmacogenetics in a psychiatric and primary care population 药物遗传学在精神科和初级保健人群中的临床实用性
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-10-27 DOI: 10.1038/s41397-022-00292-6
Krista N. Bohlen, Julie M. Kittelsrud, Morgan E. Nelson, Lisa K. Weisser, Neil J. Matthiesen, Julie A. Fieldsend, Nicholas B. Buschette, Leslie L. Cooper, Gareth E. Davies, Erik A. Ehli
{"title":"Clinical utility of pharmacogenetics in a psychiatric and primary care population","authors":"Krista N. Bohlen, Julie M. Kittelsrud, Morgan E. Nelson, Lisa K. Weisser, Neil J. Matthiesen, Julie A. Fieldsend, Nicholas B. Buschette, Leslie L. Cooper, Gareth E. Davies, Erik A. Ehli","doi":"10.1038/s41397-022-00292-6","DOIUrl":"10.1038/s41397-022-00292-6","url":null,"abstract":"This study evaluated the timing, use, and clinical outcomes of the GeneFolio® Pharmacogenomic Panel in a healthcare setting with patients managed by primary care providers or by psychiatrists. Participants were randomized to receive a pharmacogenetics report at four weeks or 12 weeks. After DNA collection and genetic analysis, pharmacists produced a recommendation report which was given to providers at the randomization week. The four-week group decreased depression severity (PHQ-9 and BDI) faster than the 12-week group (p = 0.0196), and psychiatrists’ patients decreased their depression severity faster than primary care patients (PHQ-9 p = 0.0005, BDI p = 0.0218). Mean mental quality of life increased over time (p < 0.0001), but it increased slower for patients taking drugs in the Significant drug-drug-gene interaction category (p = 0.0012). Mental quality of life, depression severity, and clinical outcomes were improved by GeneFolio® pharmacogenomic testing regardless of provider type, with earlier testing improving outcomes sooner.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"23 1","pages":"21-27"},"PeriodicalIF":2.8,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10833112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Meta-analysis of pharmacogenetic clinical decision support systems for the treatment of major depressive disorder 治疗重度抑郁障碍的药物遗传学临床决策支持系统的元分析
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-10-22 DOI: 10.1038/s41397-022-00295-3
Valentin Skryabin, Ilya Rozochkin, Mikhail Zastrozhin, Volker Lauschke, Johan Franck, Evgeny Bryun, Dmitry Sychev
{"title":"Meta-analysis of pharmacogenetic clinical decision support systems for the treatment of major depressive disorder","authors":"Valentin Skryabin, Ilya Rozochkin, Mikhail Zastrozhin, Volker Lauschke, Johan Franck, Evgeny Bryun, Dmitry Sychev","doi":"10.1038/s41397-022-00295-3","DOIUrl":"10.1038/s41397-022-00295-3","url":null,"abstract":"The study aimed to conduct a meta-analysis of studies comparing pharmacogenetically guided dosing of antidepressants with empiric standard of care. Publications referring to genotype-guided antidepressant therapy were identified via PubMed, Google Scholar, Scopus, Web of Science, Embase, and Cochrane databases from the inception of the databases to 2021. In addition, bibliographies of all articles were manually searched for additional references not identified in primary searches. Studies comparing clinical outcomes between two groups of patients who received antidepressant treatment were included in meta-analysis. Analysis of the data revealed statistically significant differences between the experimental group receiving pharmacogenetically guided dosing and the empirically treated controls. Specifically, genotype-guided treatment significantly improved response and remission of patients after both eight and twelve weeks of therapy, whereas no effect on the development of adverse drug reactions was observed. This meta-analysis indicates that the use of preemptive genotyping to guide dosing of antidepressants might increase treatment efficacy.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"23 2-3","pages":"45-49"},"PeriodicalIF":2.8,"publicationDate":"2022-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9995629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Influence of UGT1A1 and SLC22A6 polymorphisms on the population pharmacokinetics and pharmacodynamics of raltegravir in HIV-infected adults: a NEAT001/ANRS143 sub-study UGT1A1 和 SLC22A6 多态性对艾滋病毒感染成人中拉替拉韦群体药代动力学和药效学的影响:NEAT001/ANRS143 子研究
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-10-20 DOI: 10.1038/s41397-022-00293-5
Rohan Gurjar, Laura Dickinson, Daniel Carr, Wolfgang Stöhr, Stefano Bonora, Andrew Owen, Antonio D’Avolio, Adam Cursley, Nathalie De Castro, Gerd Fätkenheuer, Linos Vandekerckhove, Giovanni Di Perri, Anton Pozniak, Christine Schwimmer, François Raffi, Marta Boffito, the NEAT001/ANRS143 Study Group
{"title":"Influence of UGT1A1 and SLC22A6 polymorphisms on the population pharmacokinetics and pharmacodynamics of raltegravir in HIV-infected adults: a NEAT001/ANRS143 sub-study","authors":"Rohan Gurjar, Laura Dickinson, Daniel Carr, Wolfgang Stöhr, Stefano Bonora, Andrew Owen, Antonio D’Avolio, Adam Cursley, Nathalie De Castro, Gerd Fätkenheuer, Linos Vandekerckhove, Giovanni Di Perri, Anton Pozniak, Christine Schwimmer, François Raffi, Marta Boffito, the NEAT001/ANRS143 Study Group","doi":"10.1038/s41397-022-00293-5","DOIUrl":"10.1038/s41397-022-00293-5","url":null,"abstract":"Using concentration-time data from the NEAT001/ARNS143 study (single sample at week 4 and 24), we determined raltegravir pharmacokinetic parameters using nonlinear mixed effects modelling (NONMEM v.7.3; 602 samples from 349 patients) and investigated the influence of demographics and SNPs (SLC22A6 and UGT1A1) on raltegravir pharmacokinetics and pharmacodynamics. Demographics and SNPs did not influence raltegravir pharmacokinetics and no significant pharmacokinetic/pharmacodynamic relationships were observed. At week 96, UGT1A1*28/*28 was associated with lower virological failure (p = 0.012), even after adjusting for baseline CD4 count (p = 0.048), but not when adjusted for baseline HIV-1 viral load (p = 0.082) or both (p = 0.089). This is the first study to our knowledge to assess the influence of SNPs on raltegravir pharmacodynamics. The lack of a pharmacokinetic/pharmacodynamic relationship is potentially an artefact of raltegravir’s characteristic high inter and intra-patient variability and also suggesting single time point sampling schedules are inadequate to thoroughly assess the influence of SNPs on raltegravir pharmacokinetics.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"23 1","pages":"14-20"},"PeriodicalIF":2.8,"publicationDate":"2022-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9584256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9477454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Do genetics contribute to TNF inhibitor response prediction in Psoriatic Arthritis? 遗传是否有助于预测银屑病关节炎患者对 TNF 抑制剂的反应?
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-10-15 DOI: 10.1038/s41397-022-00290-8
Philippa D. K. Curry, Andrew P. Morris, Anne Barton, James Bluett
{"title":"Do genetics contribute to TNF inhibitor response prediction in Psoriatic Arthritis?","authors":"Philippa D. K. Curry, Andrew P. Morris, Anne Barton, James Bluett","doi":"10.1038/s41397-022-00290-8","DOIUrl":"10.1038/s41397-022-00290-8","url":null,"abstract":"Psoriatic arthritis (PsA) is a heterogeneous chronic musculoskeletal disease, affecting up to 30% of people with psoriasis. Research into PsA pathogenesis has led to the development of targeted therapies, including Tumor Necrosis Factor inhibitors (TNF-i). Good response is only achieved by ~60% of patients leading to ‘trial and error’ drug management approaches, adverse reactions and increasing healthcare costs. Robust and well-validated biomarker identification, and subsequent development of sensitive and specific assays, would facilitate the implementation of a stratified approach into clinical care. This review will summarise potential genetic biomarkers for TNF-i (adalimumab, etanercept and infliximab) response that have been reported to date. It will also comment upon the importance of managing clinical confounders when understanding drug response prediction. Variants in multiple gene regions including TNF-A, FCGR2A, TNFAIP3, TNFR1/TNFR1A/TNFRSF1A, TRAIL-R1/TNFRSF10A, FCGR3A have been reported to correlate with TNF-i response at various levels of statistical significance in patients with PsA. However, results were often from heterogenous and underpowered cohorts and none are currently implemented into clinical practice. External validation of genetic biomarkers in large, well-documented cohorts is required, and assessment of the predictive value of combining multiple genetic biomarkers with clinical measures is essential to clinically embed pharmacogenomics into PsA drug management.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"23 1","pages":"1-7"},"PeriodicalIF":2.8,"publicationDate":"2022-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10849646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Protein network and pathway analysis in a pharmacogenetic study of cyclosporine treatment response in Greek patients with psoriasis 希腊银屑病患者环孢素治疗反应药物遗传学研究中的蛋白质网络和通路分析
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-10-13 DOI: 10.1038/s41397-022-00291-7
Charalabos Antonatos, Aikaterini Patsatsi, Efterpi Zafiriou, Eleana F. Stavrou, Andreas Liaropoulos, Aikaterini Kyriakoy, Evangelos Evangelou, Danai Digka, Angeliki Roussaki-Schulze, Dimitris Sotiriadis, Sophia Georgiou, Katerina Grafanaki, Nicholas Κ. Moschonas, Yiannis Vasilopoulos
{"title":"Protein network and pathway analysis in a pharmacogenetic study of cyclosporine treatment response in Greek patients with psoriasis","authors":"Charalabos Antonatos, Aikaterini Patsatsi, Efterpi Zafiriou, Eleana F. Stavrou, Andreas Liaropoulos, Aikaterini Kyriakoy, Evangelos Evangelou, Danai Digka, Angeliki Roussaki-Schulze, Dimitris Sotiriadis, Sophia Georgiou, Katerina Grafanaki, Nicholas Κ. Moschonas, Yiannis Vasilopoulos","doi":"10.1038/s41397-022-00291-7","DOIUrl":"10.1038/s41397-022-00291-7","url":null,"abstract":"Although cyclosporine comprises a well-established systemic therapy for psoriasis, patients show important heterogeneity in their treatment response. The aim of our study was the pharmacogenetic analysis of 200 Greek patients with psoriasis based on the cyclosporine pathway related protein-protein interaction (PPI) network, reconstructed through the PICKLE meta-database. We genotyped 27 single nucleotide polymorphisms, mapped to 22 key protein nodes of the cyclosporine pathway, via the utilization of the iPLEX®GOLD panel of the MassARRAY® System. Single-SNP analyses showed statistically significant associations between CALM1 rs12885713 (P = 0.0108) and MALT1 rs2874116 (P = 0.0006) polymorphisms with positive response to cyclosporine therapy after correction for multiple comparisons, with the haplotype analyses further enhancing the predictive value of rs12885713 as a pharmacogenetic biomarker for cyclosporine therapy (P = 0.0173). Our findings have the potential to improve our prediction of cyclosporine efficacy and safety in psoriasis patients, as well as provide the framework for the pharmacogenetics of biological therapies in complex diseases.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"23 1","pages":"8-13"},"PeriodicalIF":2.8,"publicationDate":"2022-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10850066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Drug genetic associations with COVID-19 manifestations: a data mining and network biology approach 药物基因与 COVID-19 表现的关联:一种数据挖掘和网络生物学方法
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-09-28 DOI: 10.1038/s41397-022-00289-1
Theodosia Charitou, Panagiota I. Kontou, Ioannis A. Tamposis, Georgios A. Pavlopoulos, Georgia G. Braliou, Pantelis G. Bagos
{"title":"Drug genetic associations with COVID-19 manifestations: a data mining and network biology approach","authors":"Theodosia Charitou, Panagiota I. Kontou, Ioannis A. Tamposis, Georgios A. Pavlopoulos, Georgia G. Braliou, Pantelis G. Bagos","doi":"10.1038/s41397-022-00289-1","DOIUrl":"10.1038/s41397-022-00289-1","url":null,"abstract":"Available drugs have been used as an urgent attempt through clinical trials to minimize severe cases of hospitalizations with Coronavirus disease (COVID-19), however, there are limited data on common pharmacogenomics affecting concomitant medications response in patients with comorbidities. To identify the genomic determinants that influence COVID-19 susceptibility, we use a computational, statistical, and network biology approach to analyze relationships of ineffective concomitant medication with an adverse effect on patients. We statistically construct a pharmacogenetic/biomarker network with significant drug-gene interactions originating from gene-disease associations. Investigation of the predicted pharmacogenes encompassing the gene-disease-gene pharmacogenomics (PGx) network suggests that these genes could play a significant role in COVID-19 clinical manifestation due to their association with autoimmune, metabolic, neurological, cardiovascular, and degenerative disorders, some of which have been reported to be crucial comorbidities in a COVID-19 patient.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"22 5-6","pages":"294-302"},"PeriodicalIF":2.8,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9517961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40379690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data 出版商更正:Cyrius:利用全基因组测序数据准确进行CYP2D6基因分型
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-09-28 DOI: 10.1038/s41397-022-00287-3
Xiao Chen, Fei Shen, Nina Gonzaludo, Alka Malhotra, Cande Rogert, Ryan J. Taft, David R. Bentley, Michael A. Eberle
{"title":"Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data","authors":"Xiao Chen, Fei Shen, Nina Gonzaludo, Alka Malhotra, Cande Rogert, Ryan J. Taft, David R. Bentley, Michael A. Eberle","doi":"10.1038/s41397-022-00287-3","DOIUrl":"10.1038/s41397-022-00287-3","url":null,"abstract":"","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"22 5-6","pages":"308-308"},"PeriodicalIF":2.8,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40379691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The genetic landscape of major drug metabolizing cytochrome P450 genes—an updated analysis of population-scale sequencing data 主要药物代谢细胞色素 P450 基因的遗传格局--对群体规模测序数据的最新分析
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-09-06 DOI: 10.1038/s41397-022-00288-2
Yitian Zhou, Volker M. Lauschke
{"title":"The genetic landscape of major drug metabolizing cytochrome P450 genes—an updated analysis of population-scale sequencing data","authors":"Yitian Zhou, Volker M. Lauschke","doi":"10.1038/s41397-022-00288-2","DOIUrl":"10.1038/s41397-022-00288-2","url":null,"abstract":"Genes encoding cytochrome P450 enzymes (CYPs) are extremely polymorphic and multiple CYP variants constitute clinically relevant biomarkers for the guidance of drug selection and dosing. We previously reported the distribution of the most relevant CYP alleles using population-scale sequencing data. Here, we update these findings by making use of the increasing wealth of data, incorporating whole exome and whole genome sequencing data from 141,614 unrelated individuals across 12 human populations. We furthermore extend our previous studies by systematically considering also uncharacterized rare alleles and reveal that they contribute between 1.5% and 17.5% to the overall genetically encoded functional variability. By using established guidelines, we aggregate and translate the available sequencing data into population-specific patterns of metabolizer phenotypes. Combined, the presented data refine the worldwide landscape of ethnogeographic variability in CYP genes and aspire to provide a relevant resource for the optimization of population-specific genotyping strategies and precision public health.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"22 5-6","pages":"284-293"},"PeriodicalIF":2.8,"publicationDate":"2022-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40354369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 15
Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data 为全面的临床药理基因组学分析开发广泛的工作流程:从 100 个全外显子组测序数据的试点研究中汲取的经验教训
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-08-13 DOI: 10.1038/s41397-022-00286-4
Alireza Tafazoli, Maaike van der Lee, Jesse J. Swen, Anna Zeller, Natalia Wawrusiewicz-Kurylonek, Hailiang Mei, Ruben H. P. Vorderman, Krzysztof Konopko, Andrzej Zankiewicz, Wojciech Miltyk
{"title":"Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data","authors":"Alireza Tafazoli, Maaike van der Lee, Jesse J. Swen, Anna Zeller, Natalia Wawrusiewicz-Kurylonek, Hailiang Mei, Ruben H. P. Vorderman, Krzysztof Konopko, Andrzej Zankiewicz, Wojciech Miltyk","doi":"10.1038/s41397-022-00286-4","DOIUrl":"10.1038/s41397-022-00286-4","url":null,"abstract":"This pilot study is aimed at implementing an approach for comprehensive clinical pharmacogenomics (PGx) profiling. Fifty patients with cardiovascular diseases and 50 healthy individuals underwent whole-exome sequencing. Data on 1800 PGx genes were extracted and analyzed through deep filtration separately. Theoretical drug induced phenoconversion was assessed for the patients, using sequence2script. In total, 4539 rare variants (including 115 damaging non-synonymous) were identified. Four publicly available PGx bioinformatics algorithms to assign PGx haplotypes were applied to nine selected very important pharmacogenes (VIP) and revealed a 45–70% concordance rate. To ensure availability of the results at point-of-care, actionable variants were stored in a web-hosted database and PGx-cards were developed for quick access and handed to the study subjects. While a comprehensive clinical PGx profile could be successfully extracted from WES data, available tools to interpret these data demonstrated inconsistencies that complicate clinical application.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"22 5-6","pages":"276-283"},"PeriodicalIF":2.8,"publicationDate":"2022-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40720493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
A blockchain-based framework to support pharmacogenetic data sharing 支持药物基因数据共享的区块链框架
IF 2.8 3区 医学
Pharmacogenomics Journal Pub Date : 2022-07-22 DOI: 10.1038/s41397-022-00285-5
F. Albalwy, J. H. McDermott, W. G. Newman, A. Brass, A. Davies
{"title":"A blockchain-based framework to support pharmacogenetic data sharing","authors":"F. Albalwy, J. H. McDermott, W. G. Newman, A. Brass, A. Davies","doi":"10.1038/s41397-022-00285-5","DOIUrl":"10.1038/s41397-022-00285-5","url":null,"abstract":"The successful implementation of pharmacogenetics (PGx) into clinical practice requires patient genomic data to be shared between stakeholders in multiple settings. This creates a number of barriers to widespread adoption of PGx, including privacy concerns related to the storage and movement of identifiable genomic data. Informatic solutions that support secure and equitable data access for genomic data are therefore important to PGx. Here we propose a methodology that uses smart contracts implemented on a blockchain-based framework, PGxChain, to address this issue. The design requirements for PGxChain were identified through a systematic literature review, identifying technical challenges and barriers impeding the clinical implementation of pharmacogenomics. These requirements included security and privacy, accessibility, interoperability, traceability and legal compliance. A proof-of-concept implementation based on Ethereum was then developed that met the design requirements. PGxChain’s performance was examined using Hyperledger Caliper for latency, throughput, and transaction success rate. The findings clearly indicate that blockchain technology offers considerable potential to advance pharmacogenetic data sharing, particularly with regard to PGx data security and privacy, large-scale accessibility of PGx data, PGx data interoperability between multiple health care providers and compliance with data-sharing laws and regulations.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"22 5-6","pages":"264-275"},"PeriodicalIF":2.8,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40639424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
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