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PubMed1999

Impact of pharmacogenomics on the clinical laboratory.

Clinical pharmacogenomics promises to increase the safety and efficacy of drug prescription, decrease the incidence of adverse drug reactions, help improve public health, and presage in an era of personalized, predictive, and prophylactic medicine. Clinical pharmacogenomics stands to be broad based and include the following laboratory components: new and expanded pharmacogenetic tests, disease profiles, chemopredictive testing, and risk profiling. There is a growing body of evidence that variable drug responsiveness is caused by polymorphisms within multiple genes, protein products of which are involved in critical metabolic and/or physiologic pathways relevant for drug action. Different pharmacogenomic approaches will be used to discover a new generation of unique and highly predictive pharmacogenetic tests that the clinical laboratory will employ to help identify patient responder populations. Disease profiling and chemopredictive testing will routinely be applied to accurately screen for disease and help guide therapeutic course of action. A growing number of risk-profiling tests will assist in predicting a patient's predisposition to disease. Clinical pharmacogenomics stands to become the basis for the new millennium's practice of medicine and have a profound impact on the clinical laboratory.

Clinical Laboratory Techniques↗
PubMed2001

The human genome project: implications for the endocrinologist.

The sequencing of the human genome is a major achievement of our time. This article reviews the process and current status of the working draft sequence, ways to predict genes and assign function, and conclusions for human biology. Gene density is uneven and related to chromosome banding patterns, and the estimate of approximately 30,000 genes is lower than expected. Genetic maps for men and women differ from each other and from the physical map. Single nucleotide polymorphisms occur at an average spacing of 1 kb. Human populations are 99.99% identical, and most sequences are shared between people from different continents. To illustrate the tools for accessing the human genome sequence, searches were performed for genes encoding three categories of growth-related proteins, insulin-like growth factor-I (IGF-I) receptor, IGF-binding proteins and growth hormone receptor. The results revealed novel details about their genomic organization and new predicted transcripts. Impacts on medicine are promised in the fields of diagnostics (development of new tests), therapeutics (identification of new potential drug targets) and pharmacogenomics (streamlining of drug discovery and personalized medicine). Associated ethical, legal and social implications and controversies include genetic determinism, informed consent, privacy and confidentiality, ownership of genetic information in the biotechnology marketplace, and access to genetic healthcare.

Endocrinology↗
PubMed2004

Translation of pharmacogenomics and pharmacogenetics: a regulatory perspective.

Pharmacogenomics and pharmacogenetics provide methodologies that can lead to DNA-based tests to improve drug selection, identify optimal dosing, maximize drug efficacy or minimize the risk of toxicity. Rapid advances in basic research have identified many opportunities for the development of 'personalized' treatments for individuals and/or subsets of patients defined by genetic and/or genomic tests. However, the integration of these tests into routine clinical practice remains a major multidisciplinary challenge, and even for well-established biomarkers there has been little progress. Here, we consider this challenge from a regulatory perspective, highlighting recent initiatives from the FDA that aim to facilitate the integration of pharmacogenetics and pharmacogenomics into drug development and clinical practice.

Drug Approval↗
PubMed2001

[The present status and future prospect of the molecular diagnostic tests].

Assays for DNA or RNA sequences to diagnose infectious, neoplastic and genetic diseases have been widely used through recent progress in the molecular biology and biotechnology, and are now essential in care of patients under the advanced medicine through earlier and more accurate diagnosis. Automated systems have been developed for amplification and detection of nucleic acid sequence for infectious agents, using various nucleic acid amplification technology such as PCR. A fully automated PCR system and automated extraction of specific sequence for infectious agents such as hepatitis C virus RNA has been developed. These automated systems have provided improvement of not only assay efficiency but also quality control of the tests and have contributed to the standardization of them. Importance of development of systems for quality assessment and laboratory accreditation has been emphasized, particularly in those that still have been performed with manual methods. Based on the information on the genome sequence as the outcome of the human genome project, functions of genes and proteins have been studied by post-genomics such as expression profiling using DNA microarray, proteomics, single nucleotide polymorphisms analysis, coupled with bioinformatics. Along with advances in pharmacogenomics, these studies have raised the prospect of the development of tests for individualized medicine based on genetic information such as those predicting individual susceptibility to diseases for prevention and responsiveness to drugs for choice of treatment. For practice of such medicine, each genetic information and tests for it must be carefully evaluated and determined whether it is appropriate for cost-effective medicine through contributions to efficient process of decision-makings on patient care for prevention or avoidance of diseases and thus to cost savings.

Cytogenetic Analysis↗
PubMed2026

Financing and health system capacity for precision medicine in Asia: a six country landscape analysis.

BACKGROUND: Precision medicine (PM) adoption is accelerating across Asia, but implementation remains uneven due to differences in financing, infrastructure, governance, and health-system readiness. OBJECTIVES: To examine how six Asian countries (Singapore, South Korea, China, Malaysia, Thailand, and Indonesia) adopt, finance, and integrate PM technologies, and identify common implementation patterns and challenges. METHODS: A landscape review of peer-reviewed literature, government publications, and HTA reports (2010-2026) was conducted, supplemented by stakeholder consultations. PM applications were grouped into public health screening (hereditary breast and ovarian cancer [HBOC] and familial hypercholesterolemia [FH] cascade testing), next-generation sequencing (NGS) applications (rare diseases, oncology, pharmacogenomics), and AI-enabled PM. Evidence was synthesized across access, awareness, reimbursement, and implementation. RESULTS: Public health genomic screening demonstrated the highest implementation readiness, followed by precision oncology, while rare disease diagnostics remained infrastructure-dependent and pharmacogenomics and AI-enabled PM platforms were at earlier stages. Four readiness profiles emerged: highly aligned systems; reimbursement-constrained systems with strong governance and infrastructure; systems strengthening governance, public financing and infrastructure; and strategy-led systems expanding implementation through pilot programs and referral centers. CONCLUSIONS: PM implementation across Asia remains heterogeneous. The identified readiness profiles highlight governance, financing, and infrastructure priorities for sustainable and equitable PM diffusion.

Asia↗
PubMed2001

Pharmacogenomics: implications for laboratory medicine.

Pharmacogenomics deals with the interactions of individual genetic constitution with drug therapy. It has potentially far reaching consequences for drug development and future treatment strategies, but also for clinical in vitro diagnostics. With increasing knowledge about interactions between genes and drug treatment, there will be an equally increasing demand for rapid and reliable diagnostic tests prior to the institution of therapy. In fact, it is very likely that pharmacogenetic tests will make up a significant proportion of total molecular biology testing in the coming years. Therefore, this review focuses on the implications of pharmacogenomics on the clinical laboratory.

Clinical Laboratory Techniques↗
PubMed2004

Individualized chemotherapy treatment for breast cancer: is it necessary? Is it feasible?

Individualized selection of chemotherapy regimens based on the molecular characteristics of the cancer would be desirable. However, it is not currently feasible. The development of clinically useful predictors of response to chemotherapy has proven to be difficult. Recently, novel analytical tools particularly transcriptional profiling, have shown promise as potential predictive tests in several small exploratory studies. However, many of the practical challenges of clinical pharmacogenomics are the same that have plagued prognostic and predictive marker research for decades. Perhaps, the most important challenge is to prospectively design and conduct validation trials that demonstrate clinical utility by showing improved patient outcomes with the use of a proposed new test.

Antineoplastic Agents↗
PubMedDate not supplied

Pharmacogenetics and pharmacogenomics: origin, status, and the hope for personalized medicine.

Pharmacogenetics arose with studies of single genes, which had major effects on the action of particular drugs. It turned into pharmacogenomics through realization that the controls of most drug responses are multifactorial. Then, variable gene expression posed new problems, for example what do drugs do to genes, or how useful is any genetic pretesting of a person? A common disease may be caused by different groups of genes in different people, who therefore require different drugs for treatment. Personalized medicine is currently represented by a physician's attention to a patients age, sex, or ethnic background, that is groups showing smaller genetic variation than is typical for general humanity. Occasionally, there is also the use of single-gene pretesting of a patient before drug administration. Over time, improvements in multigenic testing promise to increase the role of personalized medicine. However, the many pharmacogenomic complexities, and particularly time-dependent changes of gene expression, will never allow personalized medicine to become an error-free entity.

Biomarkers↗
PubMed2000

Pharmacogenetics and adverse drug reactions.

Polymorphisms in the genes that code for drug-metabolising enzymes, drug transporters, drug receptors, and ion channels can affect an individual's risk of having an adverse drug reaction, or can alter the efficacy of drug treatment in that individual. Mutant alleles at a single gene locus are the best studied individual risk factors for adverse drug reactions, and include many genes coding for drug-metabolising enzymes. These genetic polymorphisms of drug metabolism produce the phenotypes of "poor metabolisers" or "ultrarapid metabolisers" of numerous drugs. Together, such phenotypes make up a substantial proportion of the population. Pharmacogenomic techniques allow efficient analysis of these risk factors, and genotyping tests have the potential to optimise drug therapy in the future.

Drug-Related Side Effects and Adverse Reactions↗
PubMed2005

Epidermal growth factor receptor and signal transduction: potential targets for anti-cancer therapy.

Agents targeting the epidermal growth factor receptor (EGFR) pathway hold particular promise for the treatment of patients with advanced disease, for whom standard chemotherapy is generally palliative. Expression of EGFR on numerous types of solid tumors, and the association of EGFR activation with tumorigenic processes including proliferation, anti-apoptosis and metastatic spread, make this pathway a particularly compelling target for rational drug design. The two classes of anti-EGFR agents in late-stage clinical testing include antibodies directed toward the extracellular EGFR domain (cetuximab, panitumumab) and small molecule tyrosine kinase inhibitors (gefitinib, erlotinib), which inactivate the receptor enzyme activity. However, important issues remain to be addressed. These include the development of appropriate predictive markers for response, such as improved tests for EGFR activity, correlation of rash with response and potential pharmacogenomic approaches; the sequencing and combination of these agents with chemotherapy and irradiation; and the possible role of these agents in the treatment of patients with earlier stage disease.

Animals↗
PubMed2006

Safety concerns on the development of novel therapeutic drugs.

Along with recent innovative approaches resulting in the development of new therapies such as small molecular inhibitors, therapeutic antibodies, recombinant proteins and gene therapy, there is increasing need for improved understanding of the basic molecular mechanisms that are exploited by such treatments. Helpful tools in the analysis of drug effects include high-throughput screening techniques such as microarrays, which are used in transcriptomics and pharmacogenomics. Although we are far from using these extensive and costly tests in our daily clinical routine, their application in basic research nevertheless takes us closer to individualized therapeutic strategies, in which the optimal therapeutic regimen is identified for each individual patient.

Drug Design↗
PubMedDate not supplied

Informed lay preferences for delivery of racially varied pharmacogenomics.

OBJECTIVES: To understand public perceptions and opinions of three options for prescribing medicine: individualized genetic testing, race-based prescription, and traditional prescription. METHODS: Focus groups in urban, suburban, and rural communities over-sampled for minority groups conducted from February through April, 2001 in Georgia. RESULTS: Group members (N = 102) identified individualized genetic testing as providing the best quality of care (60% of talk turns; 75% in postdiscussion anonymous survey), but stipulated the need for protection from the invasion of privacy, discrimination, and prohibitive cost. Most individuals chose genetic testing because it provided individualized attention, and African-Americans indicated they would choose genetic testing even if the costs were high. Overall, individuals were suspicious of race-based prescription. Analyses for degree of suspicion revealed a main effect for race and an interaction effect for race and gender. CONCLUSIONS: If issues of cost, discrimination, and privacy are addressed, lay individuals prefer genetic testing as the basis for prescription of medicines that exhibit racially patterned response variation.

Attitude to Health↗
PubMed2000

Assessing the cost-effectiveness of pharmacogenomics.

The use of pharmacogenomics to individualize drug therapy offers the potential to improve drug effectiveness, reduce adverse side effects, and provide cost-effective pharmaceutical care. However, the combinations of disease, drug, and genetic test characteristics that will provide clinically useful and economically feasible therapeutic interventions have not been clearly elucidated. The purpose of this paper was to develop a framework for evaluating the potential cost-effectiveness of pharmacogenomic strategies that will help scientists better understand the strategic implications of their research, assist in the design of clinical trials, and provide a guide for health care providers making reimbursement decisions. We reviewed concepts of cost-effectiveness analysis and pharmacogenomics and identified 5 primary characteristics that will enhance the cost-effectiveness of pharmacogenomics: 1) there are severe clinical or economic consequence that are avoided through the use of pharmacogenomics, 2) monitoring drug response using current methods is difficult, 3) a well-established association between genotype and clinical phenotype exists, 4) there is a rapid and relatively inexpensive genetic test, and 5) the variant gene is relatively common. We used this framework to evaluate several examples of pharmacogenomics. We found that pharmacogenomics offers great potential to improve patients' health in a cost-effective manner. However, pharmacogenomics will not be applied to all currently marketed drugs, and careful evaluations are needed on a case-by-case basis before investing resources in research and development of pharmacogenomic-based therapeutics and making reimbursement decisions.

Anticholesteremic Agents↗
PubMed2007

Pattern-recognition techniques with haplotype analysis in pharmacogenomics.

Single nucleotide polymorphisms (SNPs) can be used in clinical association studies to determine the contribution of genes to drug efficacy. However, it would be extremely inefficient to test all the 10 million common SNPs for an association study. Here we review haplotype analysis and pattern-recognition techniques to systematically select candidate SNPs for candidate-gene association studies in pharmacogenomics. First, we survey linkage disequilibrium methods to identify tag SNPs and explore the use of haplotypes as genetic markers that are correlated and associated with drug efficacy. Secondly, we investigate pattern-recognition algorithms and statistical analyses to assess drug efficacy based on SNPs and other factors. Finally, we study pattern-recognition approaches to evaluate the epistasis among genes and SNPs. These techniques may provide tools for clinical association studies and help find genes/SNPs involved in responses to therapeutic drugs or adverse drug reactions.

Animals↗
PubMed2004

Pharmacogenomics in breast cancer: current trends and future directions.

Pharmacogenomics is the study of genetic variations between individuals to predict the risk of toxic side effects and the probability that a patient will respond to single- or multidrug chemotherapy. Breast cancer remains one of the most common cancers among women worldwide and is second only to lung cancer in cancer-related death. A better understanding of the mechanisms of initiation and progression of breast cancer is needed for early diagnosis and development of better therapeutic methodologies. Differences in cancer patients' responses to chemotherapy have often been attributed to pathogenesis and severity of the disease, drug interactions, patient's age, gender, nutritional status, organ functions and tumor biology. It is now well recognized that genetic variations in drug target genes, disease pathway genes and drug metabolizing enzymes can have greater influence on drug efficacy and toxicity. In addition, germline variants can be used to study breast cancer susceptibility, as well as the variable response to both drug and radiation therapy used in the treatment of breast cancer. This review discusses clinically relevant individual gene variations that influence breast cancer susceptibility and cancer therapy, as well as the microarray-based expression profiling studies that have great potential in cancer pharmacogenomics in terms of tumor classification, drug and biomarker discovery and drug efficacy testing.

Age Factors↗