Abstract:
:Pharmacogenetics is changing the way medicines are discovered, developed and delivered to patients. In this article, we present the 'prescription' perspective--how the results of pharmacogenetic research will help minimize the risk of costly adverse drug reactions and treatment failures, by providing predictive tools to enable healthcare providers to prescribe the right medicine for the right patient. We discuss the challenges of this research and its clinical application; its implications for drug development; evolving concepts of informed consent; related ethical, legal and social issues; changing definitions of 'genetic testing'; and the creation of an international Pharmacogenetics Working Group.
journal_name
Expert Rev Mol Diagnjournal_title
Expert review of molecular diagnosticsauthors
Renegar G,Rieser P,Manasco Pdoi
10.1586/14737159.1.3.255keywords:
subject
Has Abstractpub_date
2001-09-01 00:00:00pages
255-63issue
3eissn
1473-7159issn
1744-8352pii
ERM010305journal_volume
1pub_type
杂志文章abstract::Colorectal cancer (CRC) is a slow-developing cancer (10-15 years) with one of the highest frequencies in the world's population. Many countries have implemented various CRC screening programs, but have not achieved the desired compliance. Colonoscopy - considered the gold standard for CRC screening - has its limitatio...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1586/14737159.2015.975212
更新日期:2015-02-01 00:00:00
abstract::More than a decade of intensive use of microarray technology has flooded the scientific community with genome-wide expression data of diverse biological states. As a result, connection of the expression signatures of a relatively small number of genes related to, for example, disease states, patient responses or toxic...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.8.4.379
更新日期:2008-07-01 00:00:00
abstract::The fundamental strategy of the current postgenomic era or the era of functional genomics is to expand the scale of biologic research from studying single genes or proteins to studying all genes or proteins simultaneously using a systematic approach. As recently developed methods for obtaining genome-wide mRNA express...
journal_title:Expert review of molecular diagnostics
pub_type: 历史文章,杂志文章
doi:10.1586/14737159.5.3.315
更新日期:2005-05-01 00:00:00
abstract::Endometriosis is defined as the presence of endometrial glands and stroma outside the uterus, in different parts of the peritoneal cavity. It affects up to 10% of reproductive-age women and up to 50% of women with infertility. Surgical diagnosis of endometriosis is still the gold standard, with no diagnostic biomarker...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1015994
更新日期:2015-04-01 00:00:00
abstract::The CCN genes encode secreted signaling proteins that participate in fundamental processes including cell adhesion, proliferation and differentiation, embryogenesis, tissue remodeling and patterning. Abnormal expression of CCN proteins is associated with several pathological conditions, including vascular diseases, fi...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.3.5.597
更新日期:2003-09-01 00:00:00
abstract::Although comprehensive molecular diagnostics and personalized medicine have sparked excitement among researchers and clinicians, they have yet to be fully incorporated into today's standard of care. This is despite the discovery of disease-related oncogenes, tumor-suppressor genes and protein biomarkers, as well as ot...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.09.25
更新日期:2009-07-01 00:00:00
abstract:INTRODUCTION:Despite advances in surgery and chemotherapy for ovarian cancer, 70% of women still succumb to the disease. Biomarkers have contributed to the management of ovarian cancer by monitoring response to treatment, detecting recurrence, distinguishing benign from malignant pelvic masses and attempting to detect ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1326820
更新日期:2017-06-01 00:00:00
abstract:INTRODUCTION:Cytomegalovirus (CMV) is a common opportunistic infection that contributes to poor outcomes in hematopoietic stem cell transplant (HSCT) recipients. Prevention of CMV end-organ disease in allogeneic HSCT recipients is commonly achieved by preemptive antiviral therapy of asymptomatic CMV reactivation that i...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1325737
更新日期:2017-07-01 00:00:00
abstract::Recent progress in the development of molecular diagnostics in medicine has been rapid and the hope has been expressed by some people that it will soon be possible to have a detailed 'genetic readout' to assist in the diagnosis of treatment of a variety of diseases. However, such an outcome may be neither achievable n...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.3.1.13
更新日期:2003-01-01 00:00:00
abstract::Reverse-transcription PCR (RT-PCR) coupled with electrospray ionization mass spectrometry (ESI-MS) is a high-throughput nucleic acid-based technology that relies on the accurate measurement of the molecular weight of PCR amplicons that can be used to deduce the base counts (number of As, Gs, Cs and Ts) of DNA. These a...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.10.107
更新日期:2011-01-01 00:00:00
abstract::Acute intermittent porphyria (AIP) is an inherited metabolic disease with an autosomal dominant pattern of inheritance. The disease is caused by a partial deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis. Since biochemical measurements of patients and their healthy relatives overlap, the diagnosis o...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.4.2.243
更新日期:2004-03-01 00:00:00
abstract::The measurement of numerous samples as in drug screening or diagnostics has been improved significantly over recent years. The processing of a great number of carriers with 96, 384 or 1536 wells is not the limiting step anymore and more than 100,000 samples can be analyzed within 24 h. New challenges arise in optimizi...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:
更新日期:2001-11-01 00:00:00
abstract:INTRODUCTION:Advances in the biology of non-small-cell lung cancer, especially adenocarcinoma, reveal multiple molecular subtypes driving oncogenesis. Accordingly, individualized targeted therapeutics are based on mutational diagnostics. AREAS COVERED:Advances in strategies and techniques for individualized treatment,...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2016.1181545
更新日期:2016-07-01 00:00:00
abstract::Circulating tumor cells (CTCs) in the blood of cancer patients have received increasing attention as new diagnostic tool enabling 'liquid biopsies'. In contrast to the wealth of descriptive studies demonstrating the clinical relevance of CTCs as biomarkers, the extremely low concentration of CTCs in the peripheral blo...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1091729
更新日期:2015-01-01 00:00:00
abstract::Genetic mapping by linkage analysis has been an invaluable tool in the positional strategy to identify the molecular basis of many rare Mendelian disorders. With the attention of the scientific and medical community shifting towards the analysis of more common, complex traits, it has become necessary to develop new ap...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.5.5.781
更新日期:2005-09-01 00:00:00
abstract::Several biomarkers associated with spontaneous preterm birth (PTB) have been discovered over the last decade. Many of these markers, such as cytokines, are associated with infection and inflammation. As such, these biomarkers represent biologically plausible candidates for assessing those at risk of PTB. However, in t...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.09.70
更新日期:2010-01-01 00:00:00
abstract::Testing for amplification of the human EGF receptor 2 (HER2) gene by in situ hybridization is a central principle for the identification of breast cancer patients likely to respond to treatments directed toward HER2. However, its application in clinical routine has been somewhat restricted by the typical use of a visu...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1586/erm.13.6
更新日期:2013-04-01 00:00:00
abstract:AIM:Molecular diagnosis of fragile X syndrome demands assessment of fragile X mental retardation 1 (FMR1) CGG repeat size and methylation status, while predicting disease transmission risk requires determination of AGG interruption pattern. There is currently no single assay that provides all three categories of inform...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1586/14737159.2015.1001749
更新日期:2015-03-01 00:00:00
abstract::Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey'...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1039516
更新日期:2015-06-01 00:00:00
abstract::Concomitant advances made by the Human Genome Project and in the development of nucleic acid screening technologies are driving the expansion of pharmacogenomic research and molecular diagnostics. However, most current technologies are restrictive due to their complexity and/or cost, limiting the potential of personal...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2.5.487
更新日期:2002-09-01 00:00:00
abstract::Antimitochondrial antibodies are the serological hallmark of primary biliary cirrhosis (PBC). Besides antimitochondrial antibodies, the autoantibody profile of PBC includes antinuclear antibodies (ANA) which are detectable by indirect immunofluorescence in up to 50% of PBC patients. Two immunofluorescence patterns are...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.11.82
更新日期:2012-01-01 00:00:00
abstract::Despite numerous technical hurdles, the realization of true personalized medicine is becoming a progressive reality for the future of patient care. With the development of new techniques and tools to measure the genetic signature of tumors, biomarkers are increasingly being used to detect occult tumors, determine the ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2014.943665
更新日期:2014-09-01 00:00:00
abstract:INTRODUCTION:Bodily fluids like serum and plasma contain significant amounts of tumor-derived circulating cell-free RNA, which holds the potential to serve as diagnostic biomarker. Consequently, liquid biopsies comprising circulating cell-free RNA might help to facilitate personalized treatment strategies for patients ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,meta分析,评审
doi:10.1080/14737159.2016.1239531
更新日期:2016-10-01 00:00:00
abstract:INTRODUCTION:Esophageal and esophago-gastric junction (EGJ) adenocarcinomas remain a major health problem worldwide with a worryingly increasing incidence. Recent trials indicate survivals benefit for preoperative or perioperative chemoradiotherapy compared to surgery alone. Beside standard chemoradiotherapy regimens, ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2018.1454312
更新日期:2018-04-01 00:00:00
abstract:INTRODUCTION:Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a cent...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1332997
更新日期:2017-07-01 00:00:00
abstract::Deciphering the cellular and molecular interactions that drive disease within the tissue microenvironment holds promise for discovering drug targets of the future. In order to recapitulate the in vivo interactions through molecular analysis, one must be able to analyze specific cell populations within the context of t...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.7.5.647
更新日期:2007-09-01 00:00:00
abstract:BACKGROUND:Although the majority of nasopharyngeal carcinoma (NPC) patients demonstrate favorable outcomes after radiotherapy and/or chemotherapy, about 8-10% of patients will develop recurrent disease, and genomic alterations (GAs) associated with the recurrence are unclear. METHODS:This study investigated the GAs in...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2020.1835473
更新日期:2020-11-01 00:00:00
abstract::HIV-1 protease has a broad and complex substrate specificity, which hitherto has escaped a simple comprehensive definition. This, and the relatively high mutation rate of the retroviral protease, makes it challenging to design effective protease inhibitors. Several attempts have been made during the last two decades t...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.7.4.435
更新日期:2007-07-01 00:00:00
abstract::Background: Higher liver caspase-3 activity has been found in patients with different liver diseases. However, there is no published data about circulating caspase-3 levels in patients with hepatocellular carcinoma (HCC) who underwent liver transplantation (LT). Therefore, our objective in this study was to determine ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2019.1619549
更新日期:2019-07-01 00:00:00
abstract::Skin melanoma, a life-threatening disease, has a recently reported worldwide increase in incidence, despite primary prevention. Skin melanoma statistics emphasize the need for finding markers related to the immune response of the host. The mechanisms that are able to over-power the local immune surveillance comprise m...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.10.81
更新日期:2010-10-01 00:00:00