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At least 19 recordsLinked to original sources
PubMed2026

Perceptions of Pharmacogenomic Testing Among People With Treatment Resistant Depression: Legitimization as a Facilitator of Acceptance.

Pharmacogenomic testing for psychiatric medications has been proposed as both an early intervention to optimize treatment response, and for use among patients who have tried multiple medications without symptom remission. Therefore, this testing may be particularly salient to the subset of individuals with major depressive disorder for whom depression has been labeled as "treatment resistant". Understanding the impact of this diagnostic label on illness identity and attitudes towards new therapies is important as genomic technology expands and rates of depression increase. We sought to explore perceptions and attitudes towards pharmacogenomic testing among individuals who had received a diagnosis of treatment resistant depression. We conducted a qualitative study with a constructivist orientation. Participants were recruited from a larger genomic research study and interviewed by phone or video call. We took an inductive approach to coding guided by reflexive thematic analysis. Themes were then organized into a relational framework following principles of interpretive description. Twelve individuals were interviewed. Key themes included internalized acceptance/hopelessness, and external validation/frustration, which were cyclically interconnected. These themes were situated within a larger framework illustrating the ways that illness identity and modifying factors such as relief of guilt, social support, pharmacogenomic testing and depressive symptoms can either facilitate acceptance and validation or contribute to feelings of hopelessness and frustration. Though participants expressed some skepticism around its effectiveness, pharmacogenomic testing may contribute to the shift towards acceptance and validation by legitimizing individuals' experiences with lack of treatment response. Genetic counselors and other healthcare providers should be aware of the complex balance between hope and frustration underlying conversations around pharmacogenomic testing, and factors that are more likely to foster self-acceptance.

Humans↗
PubMed1999

Mining the Swedish clinical archives to develop pharmacogenomic tests.

Eurona Medical is a Swedish company that develops diagnostic tests to predict response to drugs or treatment. Sweden offers unparalleled retrospective clinical data resources, with epidemiological registers and collections of tissue samples built up over decades. Efficient pharmacogenomic research can be performed using these registers and sample collections in collaboration with experienced medical researchers. Eurona's tests are based on Genetic Signatures, groups of polymorphic, polygenic genomic positions linked to and therefore predictive of drug response. These are elucidated from complex data sets using unique applications of multivariate and combinatorial statistics and a multigenic approach. The company develops tests applicable to current medical practice and is preparing to launch its first within the hypertension field. Quality control (including ISO9001 certification) and clinical regulatory compliance are applied throughout all programs to produce data that can be directly translated into clinical tests.

Archives↗
PubMed2000

Pharmacogenomics to predict drug response.

From theory to proof-of-concept, pharmacogenomics promises to improve future general healthcare in a number of ways. By identifying individuals who will respond to a particular drug treatment compared to those who have a low probability of response, pharmacogenomic test development hopes to aid the physician in prescribing the optimal medication for each patient. This approach promises faster relief from symptoms, a lowering of side effect risks and a reduction in healthcare costs. Pharmacogenomic tests used by the pharmaceutical companies themselves can be used to help identify suitable subjects for clinical trials, aid in interpretation of clinical trial results, find new markets for current products and speed up the development of new treatments and therapies. This type of approach should also see fewer compounds failing during later phases of development. The questions we are faced with as we enter the new millennium, however, are if and when the promises of pharmacogenomnics in improving healthcare will be fulfilled. Currently, there are only a handful of pharmacogenomic tests and associated products which are commercially available and it remains to be seen what impact these will have on the market and on healthcare in general.

Drug Therapy↗
PubMed2003

Pharmacogenomics, genetic testing and ethnic variability: tackling the ethical questions.

Dr Winkelmann is the Head of the Cooperation Unit for Pharmacogenomics and Applied Genomics in Heidelberg, which was founded in 2001 by the Department of Internal Medicine VI and the Coordination Centre for Clinical Trials at the University of Heidelberg. His main interests are sophisticated phenotyping procedures for patient characterization and the conduct of multicenter clinical trials according to international standards with state-of-the-art data management. He currently applies new genomic tools in order to achieve progress in personalized medicine using collaborating networks of general practitioners for patient enrollment. The focus of his research group is on the common complex genetic cardiovascular and metabolic diseases ranging from coronary artery disease, dyslipidemia and hypertension, to metabolic syndrome and diabetes mellitus. In collaboration with partners from biotech, the genomic techniques used in clinical studies include haplotyping of candidate genes, gene expression profiling of peripheral leucocytes and proteomics in order to identify new biomarkers of effect in therapeutic studies or pathway/target gene identification in disease-specific family studies using microarray-based linkage approaches. An innovative web-based remote data entry system with an integrated pedigree drawing tool is used in the family studies. Dr Winkelmann is also involved as the clinical database coordinator for a European Framework VI research initiative of leading European centers in cardiovascular genetics for identification of risk genes for atherothrombosis in coronary artery disease by transcriptome and proteome analysis and high throughput exon resequencing at the Wellcome Trust Sanger Institute, Cambridge, UK.

Cardiovascular Diseases↗
PubMed2001

4th Annual Pharmacogenomics and Medicine Lectures.

In the future, pharmacogenomics will play an important role in the treatment of patients by making it possible to predict drug response based on an individual's genetic make-up. Similarly, pharmacogenomics may be used to reduce the probability that adverse effects will occur. The use of a patient's genetic information will lead to greater predictability in clinical outcomes and personalisation of medical care. Pharmacogenomic information can also aid in drug development by helping to select individuals that are likely to respond to a medication for participation in clinical trials. Integration of pharmacogenomics into the healthcare system has a number of potential economic benefits, including reduced costs of healthcare and drug discovery. The FDA has no specific plans to regulate therapy-guiding pharmacogenomic tests, which are different from diagnostic genetic tests. There are a number of ethical issues related to pharmacogenomics, including the credibility of the system for protecting the rights and welfare of human research subjects, general concerns about genetic research, privacy issues and equitable distribution of the technology. To ensure integration of pharmacogenomics into the healthcare system it will be important to obtain public support through education about the benefits and risks of this technology.

Delivery of Health Care↗
PubMed2025

Evaluating Patient Experience With Genomic Medicine: A Content Analysis of National Cancer Institute-Designated Cancer Centers' Websites.

BACKGROUND: National Cancer Institute-designated cancer centers (NCI-CCs) throughout the United States are mandated to translate state-of-the-art cancer research to communities and enhance clinical care for patients within their catchment areas. NCI-CCs play a vital role in national cancer initiatives focused on optimizing cancer care via personalized medicine in which improved risk assessment, screening, and genetic testing are foundational. In this era of targeted personalized care, although genetics has been incorporated into cancer centers, it is unknown how these innovations are being communicated to the public and communities served on cancer center websites. There is particularly limited knowledge surrounding how NCI-CCs publicly communicate their efforts to integrate patient-reported experiences with genomics to fulfill their overall mission and reduce the cancer burden in their catchment areas. OBJECTIVE: The objective of this study was to evaluate how NCI-CCs publicly share information on their websites related to cancer center programming and activities to measure and incorporate patients' experiences with the use of genetics to guide cancer care. METHODS: For all NCI-CCs providing clinical care (N=65), we conducted a review of publicly available and published information and assessed five domains relevant to patients' experiences with genomic medicine: whether NCI-CCs (1) provided genetic testing, (2) directly expressed a goal of delivering personalized care, (3) provided pharmacogenomic testing, (4) assessed patient-reported experience measures with genomic medicine (including patient-reported outcomes [PROs] and other patient experience measures [OPEMs]), and (5) indicated an established infrastructure or set of resources to evaluate patient experience. We conducted a content analysis of the publicly available websites of NCI-CCs using the validated directed approach to content analysis. We quantified the results of our content analysis using count measures based on a binary (yes or no) coding scheme. RESULTS: While almost all the NCI-CCs (64/65, 98%) discussed providing personalized care and performing genetic testing on their websites, we found that 58% (38/65) indicated online that they assessed PROs or other patient experience measures with genomic medicine. Fewer centers (25/65, 38%) discussed on their websites having a mechanism for evaluating patients' experiences with genomic medicine that captured broader types of information beyond PROs, such as measures of patient education or care team communication. Finally, approximately 1 in 3 NCI-CCs (23/65, 35%) indicated having an established infrastructure with departmental resources dedicated to monitoring patients' experiences. These centers reflecting a built-in infrastructure were 8% to 12% more likely to publicly communicate targeted activities to assess patients' experiences with genomic medicine. CONCLUSIONS: With the burgeoning use of genomics in research and clinical care, comprehensive evaluation and incorporation of measures of patients' experiences with genomic medicine present a key opportunity to enhance cancer care at NCI-CCs.

Humans↗
PubMed2003

Privacy issues in personalized medicine.

Pharmacogenomics is the emerging study of why individuals respond differently to drugs. It aims to replace the current 'one size fits all' therapeutic approach with 'personalized medicine' that will use pharmacogenomic tests to predict drug response. In a simple conceptualization, these tests challenge privacy as a result of two factors: how comprehensive is the test and how is the access to samples or digital information controlled. Point-of-care tests are likely to be limited in scope, fit seamlessly into medical records and do not raise qualitatively new ethical and privacy challenges. In order to define practically relevant pharmacogenomic predictive patterns however, large-scale clinical trials and research on human specimens will be required, resulting in large databases of genomic information. The genomic scans' magnitude, stability, implications to kin and ease of dissemination together represent a qualitatively different challenge compared to traditional, self-limited and often temporally transient medical information.

Employment↗
PubMed2026

Pharmacogenomic and drug interactions risk in cardio-oncology: A precision medicine perspective for India.

Cardio-oncology patients may face complex treatment regimens due to the concurrent existence of cancer and cardiovascular disease, leading to a considerable polypharmacy burden. This significantly increases the prospect of drug-drug interactions (DDIs) and gene-drug interactions. The majority of these interactions arise from comparable pharmacokinetic and pharmacological pathways associated with drug transporters and cytochrome P450 enzymes. The significance of pharmacogenomics in tailored treatment strategies are emphasised by the fact that genetic variability enhances individual differences in drug response, safety, and efficacy. This narrative review focus on the effects of key genetic polymorphisms (e.g., DPYD, CYP2C19, and CYP2C9) on the metabolism and efficacy of commonly prescribed anticancer and cardiovascular medications such as fluoropyrimidines, clopidogrel, and warfarin. In addition it explore the role of pharmacogenomic variants on drug-drug interactions within the field of cardio-oncology. The study ultimately emphasizes the necessity of precision medicine in India to address the genetic diversity and underrepresentation in global genomic databases. The absence of pharmacogenomic testing, infrastructural deficiencies, financial constraints, and insufficient clinical integration hinder the widespread use of this technology in India. The Genome India Project and other national initiatives establish the foundation for pharmacogenomic-guided therapy. Utilizing genetic data, together with artificial intelligence-based predictive tools, for clinical decision-making may enhance medication safety and yield optimal outcomes in Indian cardio-oncology patients.

Humans↗
PubMed2001

Microchips, microarrays, biochips and nanochips: personal laboratories for the 21st century.

Micro miniaturization of analytical procedures is having significant impact on diagnostic testing, and will enable highly complex clinical testing to be miniaturized and permit testing to move from the central laboratory into non-laboratory settings. The diverse range of micro analytical devices includes microchips, gene chips, bioelectronic chips. They have been applied to several clinically important assays (e.g., PCR, immunoassay). The main advantages of the new devices are integration of multiple steps in complex analytical procedures, diversity of application, sub-microliter consumption of reagents and sample, and portability. These devices form the basis of new and smaller analyzers (e.g., capillary electrophoresis) and may ultimately be used in even smaller devices useful in decentralized testing (lab-on-a-chip, personal laboratories). The impact of microchips on healthcare costs could be significant via timely intervention and monitoring, combined with improved treatments (e.g., microchip-based pharmacogenomic tests). Empowerment of health consumers to perform self-testing is limited, but microchips could accelerate this process and so produce a level of self-awareness of biochemical and genetic information hitherto unimaginable. The next level of miniaturization is the nanochip (nanometer-sized features) and the technological foundation for these futuristic devices is discernable in nanotubes and self-assembling molecular structures.

Miniaturization↗
PubMed2026

Genomic Medicine Sweden: Advancing precision medicine at the national level.

High-throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease-causing genetic alterations and facilitating individualised treatment and care. In response to these advances, Genomic Medicine Sweden (GMS) was established in 2017 as a national collaborative effort to accelerate implementation of genomics-based precision medicine within Sweden's regionally organized, publicly funded healthcare system. GMS brings together the seven university healthcare regions and their associated medical faculties, in collaboration with healthcare regions across Sweden, Science for Life Laboratory, patient organizations, industry and governmental agencies. Activities are coordinated through national disease-specific expert groups, supported by cross-cutting functions in bioinformatics, health economics, ethics, education and patient engagement. At the operational level, seven Genomic Medicine Centres, embedded at university hospitals, develop and deliver harmonised genomic diagnostics nationwide. The National Genomics Platform provides secure infrastructure for large-scale data storage, analysis, and national and international data sharing. Following initial project-based funding, GMS now receives long-term governmental support. This review describes the national implementation of genomic-based precision diagnostics, discusses challenges and lessons learnt, and highlights key milestones across disease areas, including whole-genome sequencing in RD and paediatric cancer, comprehensive genomic profiling of haematological malignancies and solid tumours, pathogen genomics in microbiology, pharmacogenomic testing and emerging applications of polygenic risk scores in complex diseases. Collectively, these efforts have contributed to more than 500,000 genomic tests being performed within Swedish healthcare between 2017 and 2025. Finally, we outline future diagnostic needs and priority areas to ensure sustainable, scalable and equitable access to precision medicine.

Precision Medicine↗
PubMed2026

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Moving from an association signal to a clinically credible biomarker requires several links that are often conflated: verified variant identity, aligned allelic effects, reproducible gene-level association, relevant cellular expression, and a plausible functional consequence. We developed a source-aware multiomics framework to assess MPHOSPH6 in lung adenocarcinoma (LUAD) while keeping those evidence classes separate. Six prespecified rsIDs were recovered from the harmonized TRICL LUAD dataset, of which five reached p < 5 &#xd7; 10 - 8. Only rs112333466 and rs76474922 were available with alignable alleles in FinnGen R10, and both showed concordant directions. Fixed-effect estimates were OR = 1.592 for rs112333466-T (95% CI, 1.401-1.809; p = 9.91 &#xd7; 10 - 13) and OR = 0.819 for rs76474922-C (95% CI, 0.773-0.867; p = 1.03 &#xd7; 10 - 11). In a prespecified two-variant GTEx v8 lung model, genetically predicted MPHOSPH6 expression was positively associated with LUAD in TRICL (Z = 3.341, p = 8.35 &#xd7; 10 - 4) and FinnGen (Z = 2.697, p = 0.0070). This gene-level result did not establish colocalization or connect MPHOSPH6 to the six susceptibility rsIDs. Patient-level analysis of 89,241 immune cells from six paired tumor and normal-adjacent lung samples found no significant difference in MPHOSPH6 pseudobulk abundance (exact paired Wilcoxon p = 0.3125). None of 688 lung-lineage pharmacogenomic tests remained significant after false-discovery-rate correction. Ten recorded MPHOSPH6 missense alleles, including five ClinVar variants of uncertain significance, were curated; structural analysis identified I58 at an experimental RNA-exosome interface and defined a focused perturbation series. MPHOSPH6 is therefore supported as a human-variation-informed candidate for functional evaluation, not as a validated LUAD biomarker, pathogenic gene, drug-response predictor, or therapeutic target.

Humans↗
PubMed2002

Gentris corporation.

Gentris Corporation is engaged in the development and rapid commercialization of innovative proprietary clinical pharmacogenomic products and services. The company provides global pharmaceutical research organizations with turn-key pharmacogenomic solutions to improve the efficiency and predictability of drug development. The ultimate benefit to these organizations is to shorten drug development cycles, improve new drug approval rates and allow marginal drugs to advance towards final approval. In the near future, the company will develop specialized, high quality, reliable diagnostic products, which will provide physicians and their patients with access to pharmacogenomic testing, as personalized medicine becomes the new standard of medical practice.

Drug Industry↗
PubMed2002

Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics.

A prominent example of the potential application of pharmacogenomics and pharmacogenetics to oncology is the study of dihydropyrimidine dehydrogenase (DPD) in 5-fluorouracil (5-FU) metabolism. 5-FU is currently one of the most widely administered chemotherapeutic agents used for the treatment of epithelial cancers. DPD is the rate-limiting enzyme in the catabolism and clearance of 5-FU. The observation of a familial linkage of DPD deficiency from a patient exhibiting 5-FU toxicity suggested a possible molecular basis for variations in 5-FU metabolism. Molecular studies have suggested there is a relationship between allelic variants in the DPYD gene (the gene that encodes DPD) and a deficiency in DPD activity, providing a potential pharmacogenetic basis for 5-FU toxicity. In the last decade, studies have correlated tumoral DPD activity with 5-FU response, suggesting it may be a useful pharmacogenomic marker of patient response to 5-FU-based chemotherapy. This article reviews the basis and discusses the challenges of pharmacogenetic and pharmacogenomic testing of DPD for the determination of 5-FU efficacy and toxicity.

Antimetabolites, Antineoplastic↗
PubMed2002

Emerging ethical issues in pharmacogenomics: from research to clinical practice.

Pharmacogenomics holds much promise for the application of genetic information to the improvement of clinical care. Ethical issues for pharmacogenomics arise at the intersection of the spheres of drug development and genetic testing. Clinical drug trial designs which use subject selection based on genotype must consider the features of scientific validity, social value and risk-benefit ratio, and later, the impact of this strategy on post-market studies and clinical use of drugs. Although the testing context for pharmacogenomic tests is different from other genetic tests, decisions to use any new clinical tests in medical practice will require evaluation of not only the benefit linked to improved drug use but also the risks arising in part from the scale of testing, predictive value and collateral potential of the genetic test. Integration of pharmacogenomic information into clinical practice will require clinical trials to assess their clinical usefulness, including the impact of tests on therapeutic outcomes. Trials will also be needed to demonstrate the effectiveness of education, informed consent and counseling.

Animals↗
PubMed2026

Prevalence of pharmacogenomically implicated prescriptions in multi-ethnic populations in Singapore.

AIM: To assess the potential impact of implementing pre-emptive pharmacogenomic (PGx) testing in Singapore, focusing on prevalence and genetic actionability of PGx prescriptions. METHODS: Electronic Health Records from 2014 to 2021 were obtained from the National University Hospital (NUH), a tertiary medical centre serving approximately 6% of Singapore's population, which were filtered for pharmacogenomically implicated medicines (CPIC Level A or A/B), defined as PGx medications. Coupling this with published data of whole-genome sequencing of 9051 Singaporeans, we estimated the proportion of patients whose prescriptions might have been modified based on pre-emptive PGx at population level. RESULTS: From 2014 to 2021, a total of 1&#xa0;157&#x2009;359 unique patients were seen at NUH, with 38.1% to 43.0% of patients with prescriptions receiving at least one PGx medication annually, exhibiting minimal variance over year of prescription, sex or race/ethnicity. The most frequently prescribed PGx medications were omeprazole, statins and tramadol, while the most implicated pharmacogenes were CYP2C19, CYP2D6 and SLCO1B1. The age-dependent increase in PGx medication exposure varied significantly by sex, with males prescribed these medications earlier in life than females. Similarly, Indians and Malays were more likely to be prescribed these medicines at a younger age than Chinese. Based on frequency of PGx variants in Singaporeans, we estimate that 18.4% of patients could have their prescriptions modified from pre-emptive PGx testing. DISCUSSION: Pharmacogenomically implicated medication prescriptions are common in Singapore and are particularly prevalent in elderly populations. Strategic investments in infrastructure and policy development will be pivotal to the successful integration of pre-emptive PGx into clinical practice.

Asian genomes↗
PubMed2025

Pharmacogenomic Assessment of Genes Implicated in Thiopurine Metabolism and Toxicity in a UK Cohort of Pediatric Patients With Inflammatory Bowel Disease.

BACKGROUND: Thiopurine drugs are effective treatment options in inflammatory bowel disease and other conditions but discontinued in some patients due to toxicity. METHODS: We investigated thiopurine-induced toxicity in a pediatric inflammatory bowel disease cohort by utilizing exome sequencing data across a panel of 46 genes, including TPMT and NUDT15. RESULTS: The cohort included 487 patients with a median age of 13.1 years. Of the 396 patients exposed to thiopurines, myelosuppression was observed in 11%, gastroenterological intolerance in 11%, hepatotoxicity in 4.5%, pancreatitis in 1.8%, and "other" adverse effects in 2.8%. TPMT (thiopurine S-methyltransferase) enzyme activity was normal in 87.4%, intermediate 12.3%, and deficient in 0.2%; 26% of patients with intermediate activity developed toxicity to thiopurines. Routinely genotyped TPMT alleles associated with defective enzyme activity were identified in 28 (7%) patients: TPMT*3A in 4.5%, *3B in 1%, and *3C in 1.5%. Of these, only 6 (21%) patients developed toxic responses. Three rare TPMT alleles (*3D, *39, and *40) not assessed on routine genotyping were identified in 3 patients, who all developed toxic responses. The missense variant p.R139C (NUDT15*3 allele) was identified in 4 patients (azathioprine 1.6 mg/kg/d), but only 1 developed toxicity. One patient with an in-frame deletion variant p.G13del in NUDT15 developed myelosuppression at low doses. Per-gene deleteriousness score GenePy identified a significant association for toxicity in the AOX1 and DHFR genes. CONCLUSIONS: A significant association for toxicity was observed in the AOX1 and DHFR genes in individuals negative for the TPMT and NUDT15 variants. Patients harboring the NUDT15*3 allele, which is associated with myelosuppression, did not show an increased risk of toxicity.

Humans↗
PubMed2003

Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis.

Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system characterized by progressive neurological dysfunction. No curative therapy is currently available, and approximately 80-90% of afflicted individuals are ultimately disabled. Interferon beta (IFNbeta) has been shown to decrease clinical relapses, reduce brain disease activity, and possibly slow progression of disability. However, the overall effect of treatment is partial and a substantial number of patients are considered poor or nonresponders. For this report, we tested the pharmacogenomic effects of eight polymorphisms in the interferon receptor genes (IFNAR1 and IFNAR2) in a group of 147 patients undergoing open-label IFNbeta therapy. Overall, no significant differences in the distribution of responders and nonresponders, classified based on prospectively acquired primary and secondary clinical end points, were observed when stratified by any of the studied IFNAR gene polymorphisms. A trend detected with a single nucleotide polymorphism SNP 16469 (A/T) located at the third intron of the IFNAR1 gene, suggesting modest association with relapse-free status, will require confirmation in an independent data set. In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis.

Adolescent↗