Abstract:
:Translational research is frequently used in the bioscience literature to refer to the translation of basic science into practical applications at the point of patient care. With the introduction of theragnostics, a new medical subspecialty that fuses therapeutics and diagnostic medicine with the goal of providing individualized pharmacotherapy, we suggest that the focus of translational research is shifting. We identify two bottlenecks or gaps in translational research for theragnostics: GAP1 translation from basic science to first-in-human proof-of-concept; and GAP2 translation from clinical proof-of-concept to development of evidence-based personalized treatment guidelines. GAP1 translational research in theragnostics is usually performed in traditional craft-based studies with small sample sizes and led by independent academic or industry researchers. In contrast, GAP2 translational investigations typically rely on large research consortiums and population-based biobanks that couple biomarker information with longitudinal 'real-life' observational data on a broad range of pharmacological phenotypes. Despite an abundance of research on the use of biobanks in disease gene discovery, there has been little conceptual work on whether and to what extent population biobanks can be utilized for translating genomics discoveries to practical treatment guidelines for theragnostic tests.
journal_name
Pharmacogenomicsjournal_title
Pharmacogenomicsauthors
Ozdemir V,Williams-Jones B,Cooper DM,Someya T,Godard Bdoi
10.2217/14622416.8.2.177subject
Has Abstractpub_date
2007-02-01 00:00:00pages
177-85issue
2eissn
1462-2416issn
1744-8042journal_volume
8pub_type
杂志文章,评审相关文献
PHARMACOGENOMICS文献大全abstract:AIM:Our objective was to describe the association between voriconazole concentrations and CYP2C19 diplotypes in pediatric cancer patients, including children homozygous for the CYP2C19*17 gain-of-function allele. MATERIALS & METHODS:A linear mixed effect model compared voriconazole dose-corrected trough concentrations...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.14.53
更新日期:2014-06-01 00:00:00
abstract:AIMS:To study the frequency distribution of cytochrome P450 (CYP) functional genetic variants in five Eurasian populations from the territory of Siberia in Russia. MATERIALS & METHODS:Unrelated healthy Tuvinians, Buryats, Altaians, Yakuts and Russians (n = 87-88) were genotyped for CYP2C9*2, CYP2C9*3, CYP2C19*2, CYP2C...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/14622416.9.7.847
更新日期:2008-07-01 00:00:00
abstract:AIM:This study evaluated the impact of SULT4A1 gene variation on psychopathology and antipsychotic drug response in Caucasian subjects from the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) study and a replication sample. PATIENTS & METHODS:SULT4A1 haplotypes were determined using SNP data. The r...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.10.205
更新日期:2011-04-01 00:00:00
abstract::A letter in response to: Andersson ML, Eliasson E, Lindh JD. A clinically significant interaction between warfarin and simvastatin is unique to carriers of the CYP2C9*3 allele. Pharmacogenomics 13(7), 757-762 (2012). ...
journal_title:Pharmacogenomics
pub_type: 评论,信件
doi:10.2217/pgs.12.151
更新日期:2012-11-01 00:00:00
abstract::The extent of genetic variation found in drug metabolism genes and its contribution to interindividual variation in response to medication remains incompletely understood. To better determine the identity and frequency of variation in 11 phase I drug metabolism genes, the exons and flanking intronic regions of the cyt...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.1517/14622416.5.7.895
更新日期:2004-10-01 00:00:00
abstract:AIM:Several HLA alleles have been associated with antiepileptic drugs (AEDs)-induced cutaneous adverse drug reactions (cADRs) in different populations; however, this has not been investigated in Mexican Mestizos (MM). Thus, the purpose of this preliminary study was to determine the association of HLA class I alleles wi...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.14.135
更新日期:2014-01-01 00:00:00
abstract::Alteration in epigenetic regulation of gene expression is a frequent event in human cancer. CpG island hypermethylation and downregulation is observed for many genes involved in a diverse range of functions and pathways that become deregulated in cancer. Paradoxically, global hypomethylation is a hallmark of almost al...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/14622416.9.2.215
更新日期:2008-02-01 00:00:00
abstract::Currently, there is sufficient evidence for the use of pharmacogenetic information to optimize medication prescribing, but why has this information not been integrated into the drug prescribing process to improve patient care? A discussion about the major contributing factors that have limited the use of pharmacogenet...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2017-0192
更新日期:2018-04-01 00:00:00
abstract::Hematopoietic stem cell transplantation (HSCT) is a curative treatment for several malignant and nonmalignant disorders. Busulfan (Bu) and cyclophosphamide (Cy) are the most commonly used alkylators in high-dose pretransplant conditioning for HSCT; a treatment that is correlated with drug-related toxicity and relapse....
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.12.185
更新日期:2013-01-01 00:00:00
abstract:AIM:This national dissemination study evaluated pharmacy students' self-reported overall ability, self-efficacy and attitudes toward applying pharmacogenomics and perceptions of Pharmacogenomics Education Program, a shared pharmacogenomics curriculum. PATIENTS & METHODS:Following a series of train-the-trainer programs...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.14.181
更新日期:2015-01-01 00:00:00
abstract:AIM:To determine the clinical and genetic predictors of the dipeptidyl peptidase-4 (DPP-4) inhibitor treatment response in Type 2 diabetes mellitus (T2DM) patients. PATIENTS & METHODS:DPP4, WFS1 and KCNJ11 gene polymorphisms were genotyped in a cohort study of 662 T2DM patients treated with DPP-4 inhibitors sitaglipti...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2016-0010
更新日期:2016-06-01 00:00:00
abstract::Cancers of the colon are commonly treated with fluoropyrimidines, which often cause severe toxicities in patients with certain variants in DPYD. Y186C (rs115232898) and a variant in the 3' untranslated region (rs12132152) are uncommon alleles previously observed in African-Americans. An African-American female underwe...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2020-0120
更新日期:2021-01-01 00:00:00
abstract::PON1 is a key component of high-density lipoproteins (HDLs) and is at least partially responsible for HDL's antioxidant/atheroprotective properties. PON1 is also associated with numerous human diseases, including cardiovascular disease, Parkinson's disease and cancer. In addition, PON1 metabolizes a broad variety of s...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.13.147
更新日期:2013-09-01 00:00:00
abstract:AIMS:The current study investigates whether or not functional polymorphisms in the ATP-binding cassette transporter gene ABCG2 might affect gefitinib activity and/or toxicity in non-small-cell lung cancer (NSCLC) patients. MATERIALS & METHODS:Towards this end, ABCG2 polymorphisms and expression were assessed in DNA an...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.10.172
更新日期:2011-02-01 00:00:00
abstract::HER2 upregulation is related with poor outcome in many tumor types. Whereas anti-HER2 treatment is the standard approach as adjuvant therapy in HER2-overexpressing breast cancer, the frequent relapses reinforce the need for alternative treatments. Here we used next-generation sequencing (NGS) to evaluate miRNAs and ci...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2018-0182
更新日期:2019-05-01 00:00:00
abstract::Referred to as the micromanagers of gene expression, microRNAs (miRNAs) are evolutionarily conserved small noncoding RNAs. Polymorphisms in the miRNA pathway (miR-polymorphisms) are emerging as powerful tools to study the biology of a disease and have the potential to be used in disease prognosis and diagnosis. Detect...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/14622416.10.3.399
更新日期:2009-03-01 00:00:00
abstract::The heterogeneous Brazilian population, with European, African and Amerindian ancestral roots is a model case for exploring the impact of population admixture on the frequency distribution of polymorphisms in pharmacogenes, and the design and interpretation of pharmacogenomics trials. Examples drawn from studies carri...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.13.238
更新日期:2014-02-01 00:00:00
abstract::Aim: The influence of variants in pharmacokinetics-related genes on long-term exposure to tacrolimus (TAC)-based therapy and clinical outcomes was investigated. Patients & methods: Brazilian kidney recipients were treated with TAC combined with everolimus (n = 178) or mycophenolate sodium (n = 97). The variants in CYP...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2019-0120
更新日期:2020-01-01 00:00:00
abstract::COVID-19 utilizes the ACE2 pathway as a means of infection. Early data on COVID-19 suggest heterogeneity in the severity of symptoms during transmission and infection ranging from no symptoms to death. The source of this heterogeneity is likely multifaceted and may have a genetic component. Demographic and clinical co...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs-2020-0048
更新日期:2020-07-01 00:00:00
abstract::Large interindividual variation in efficacy and adverse effects of anti-epileptic therapy presents opportunities and challenges in pharmacogenomics. Although the first true association of genetic polymorphism in drug-metabolizing enzymes with anti-epileptic drug dose was reported 10 years ago, most of the findings hav...
journal_title:Pharmacogenomics
pub_type: 杂志文章,评审
doi:10.2217/pgs.09.34
更新日期:2009-05-01 00:00:00
abstract:AIM:To find new genetic loci associated with statin response, and to investigate the association of a genetic risk score (GRS) with this outcome. PATIENTS & METHODS:In a discovery meta-analysis (five studies, 1991 individuals), we investigated the effects of approximately 50000 single nucleotide polymorphisms on stati...
journal_title:Pharmacogenomics
pub_type: 杂志文章,meta分析
doi:10.2217/pgs.16.8
更新日期:2016-04-01 00:00:00
abstract::Founded as a spin-off from the University of Vienna in 1999, VBC-GENOMICS Bioscience Research GmbH (LLC) has rapidly gained a strong position within the Austrian biotech scene, based on its success as a service provider in oligonucleotide synthesis and custom sequencing. In research, the company has focused on the dev...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.1517/14622416.5.4.439
更新日期:2004-06-01 00:00:00
abstract:AIM:Association of the brain-derived neurotrophic factor (BDNF) genetic polymorphism rs6265 (Val66Met) with methamphetamine (METH) dependence and METH-induced psychosis was investigated in the Thai population. MATERIALS & METHODS:The rs6265 genotype was determined in 100 male METH-dependent subjects and 102 controls u...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.15.96
更新日期:2015-01-01 00:00:00
abstract:AIMS:Individuals with both diabetes mellitus (DM) and the Haptoglobin (Hp) 2-2 genotype are at increased risk of cardiovascular disease. As the antioxidant function of the Hp 2-2 protein is impaired, we sought to test the pharmacogenomic hypothesis that antioxidant vitamin E supplementation would provide cardiovascular...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.10.17
更新日期:2010-05-01 00:00:00
abstract::We report the case of a patient bearing a T315I-mutant chronic myeloid leukemia resistant to nilotinib, successfully treated with omacetaxine and then with dasatinib. After 9 months of nilotinib, the patient achieved a major molecular response but relapsed 3 months later due to the T315I mutation. Because third-genera...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.15.25
更新日期:2015-01-01 00:00:00
abstract:AIM:Genetic variants contribute to statins' therapeutic variability. SREBF-SCAP pathway is a key player in lipid homeostasis. Hence, effect of SREBF-SCAP polymorphisms on therapeutic response was studied. PATIENTS & METHODS:Metabolic syndrome patients of either sex were prescribed rosuvastatin 10 mg for 24 weeks. Clin...
journal_title:Pharmacogenomics
pub_type: 临床试验,杂志文章
doi:10.2217/pgs-2017-0181
更新日期:2018-02-01 00:00:00
abstract::Pharmacogenomics (PGx) implementation in clinical practice is steadily increasing. PGx uses genetic information to personalize medication use, which increases medication efficacy and decreases side effects. The availability of clinical PGx guidelines is essential for its implementation in clinical settings. Currently,...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2020-0056
更新日期:2020-11-01 00:00:00
abstract::Migraine is considered one of the most disabling neurological disorder with a high socioeconomic burden. Pharmacological management includes many classes of drugs which in the most cases, are administrated in polytherapy. The therapeutic scheme of migraineurs is often affected by comorbidities which need concomitant m...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs-2019-0069
更新日期:2019-11-01 00:00:00
abstract::High-throughput data collection using gene microarrays has great potential as a method for addressing the pharmacogenomics of complex biological systems. Similarly, mechanism-based pharmacokinetic/pharmacodynamic modeling provides a tool for formulating quantitative testable hypotheses concerning the responses of comp...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.1517/14622416.5.5.525
更新日期:2004-07-01 00:00:00
abstract:AIMS:Survivin (SVV) mRNA expression levels in peripheral blood of patients with gastrointestinal malignancies change significantly during the course of treatment. We wanted to scrutinize these findings in patients with esophageal carcinoma and furthermore evaluate whether the detection of mRNA and the change in detecti...
journal_title:Pharmacogenomics
pub_type: 杂志文章
doi:10.2217/pgs.09.164
更新日期:2010-03-01 00:00:00