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Pharmacology, Toxicology and Pharmaceutics · Research topic

Open research questions in Pharmacogenetics and Drug Metabolism

33 unresolved questions extracted from the limitations and future-work sections of 308 Pharmacogenetics and Drug Metabolism papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • Publisher’s note of inflammation-mediated Moving beyond static, genotype-centric models is the next essential Frontier in translational pharmacology and drug safety evaluation. The conceptual framework in this review shows that real-world drug response is dynamic, shaped by a non-linear network suppression, oxidative stress, and altered cellular resilience. Future research must prioritize capturing this functional phenotype-genotype discordance through functional phenoconversion and systems biology. Advancing this field requires a shift from isolated comprehensive, multi-omic a biomarker paradigm.

    Dynamic phenotype monitoring to prevent genotype–phenotype discrepancies in pharmacogenetic-guided drug therapy · 2026 · DOI

  • corticosteroid treatment for mild asthma be based on symptom frequency: a post hoc efficacy analysis of the START study. Lancet, 389(10065): 157-166. 9. Cleveland, T. L. (2011). Pulmonary disorders. Patient education: a practical approach. Burlington: Jones & Bartlett. 10. Cukic, V., Lovre, V., Dragisic, D., & Ustamujic, A. (2012). Asthma and chronic obstructive pulmonary similarities. and disease Materia Socio-Medica, 24(2): 100-105. (COPD)—differences 11. World Health Organization. (2007). Global surveillance, prevention, and control of chronic respiratory diseases: a comprehensive approach. Geneva: WHO. 12. Kopp, B. J., et al. (2006). Medication errors and adverse drug events in an intensive care unit: direct observation approach for detection. Critical Care Medicine, 34(2): 415-425. 13. Qaseem, A., et al. of stable chronic (2011). Diagnosis and management obstructive pulmonary disease: a clinical practice guideline update from the American College of Physicians, American College of Chest Physicians, American Thoracic Society, and European Respiratory Society. Annals of Internal Medicine, 155: 179-191. 14. World Health Organization. (2007). Global surveillance, prevention, and control of chronic respiratory diseases: a comprehensive approach. Geneva: WHO. 15. Adeloye, D., et al. (2015). Global and regional estimates of COPD prevalence: Systematic review and meta-analysis. Journal of Global Health, 5(2): 020415. 16. Petersen, K. E., et al. (2014). Personalized Medicine, Availability, and Group Disparity: An Inquiry into How Physicians Perceive and Rate the Elements and Barriers of Personalized Medicine. Public Health Genomics, 17: 209-220. 17. Petersen, A., et al. (2014). Personalized medicine and pharmacogenomics: knowledge and attitudes of U.S. physicians. Personalized Medicine, 11(3): 209-220. 18. Sistonen, (2010). Pharmacogenetic landscape of codeine metabolism: implications for the risk of opioid toxicity. Pharmacogenomics Journal, 10(5): 1-11. J., et al. www.wjpmr.com │ Vol 12, Issue 7, 2026. │ ISO 9001:2015 Certified Journal │ 127 Mohanraj et al. World Journal of Pharmaceutical and Medical Research 19. Kittles, R. (2012). Genes and environments: moving toward personalized medicine in the context of health disparities. Ethnicity & Disease, 22(1): 43-46. 20. Need, A. C., & Goldstein, D. B. (2009). Nextgeneration disparities in human genomics: concerns and remedies. Trends in Genetics, 25: 489-494. 21. Weiss, S. T., et al. (2006). Overview of the treatment. of pharmacogenetics Pharmacogenomics Journal, 6: 311-326. asthma 22. Meyers, D. A., et al. (2014).

    PERSONALIZED MEDICINE FOR HIGH ALERT DRUGS IN RESPIRATORY DISEASES · 2026 · DOI

  • The future of pharmacogenomics is closely linked to ongoing advances in genomic technologies, computational biology, and digital health. www.wjpr.net │ Vol 15, Issue 13, 2026. │ ISO 9001: 2015 Certified Journal │ 1464 Mehtaj et al. World Journal of Pharmaceutical Research Sequencing costs continue to decline, making routine genomic testing increasingly feasible. Comprehensive genomic profiles may eventually become part of lifelong electronic health records and be consulted whenever treatment decisions are required.

    A REVIEW OF PHARMACOGENOMICS AND PERSONALIZED MEDICINE · 2026 · DOI

  • Warfarin dosing varies widely due to genetic, demographic, and clinical factors, but it is unknown whether the importance, equilibrium, and prediction uncertainty of established pharmacogenetic predictors (VKORC1 and CYP2C9) differ between arterial (AF/stroke) and venous (DVT/PE) thromboembolic indications.

    Predictors of warfarin therapeutic dose across thromboembolic indications: an exploratory early clinical evaluation study using machine learning-integrated explainable artificial intelligence and Bayesian models · 2026 · DOI

  • From the data from the present study, and prior PGx analysis of specific genes used in the ICU [7], we can only suggest that genomic analysis of PGx-related genes may have potential utility in guiding precision dosing in the ICU. However, clinical guidelines for dose adjustments exist for only a subset of medications, and there are multiple challenges to implementing PGx in routine ICU practice. Our conclusions are therefore exploratory and should not be interpreted as evidence of confirmed dosing recommendations. First, there are significant differences in the genes/variants among different ethnic/racial groups as evidenced by demonstra- tion of the significant differences among Qataris, African/African Americans and Europeans. Second, this is particularly critical in the ICU setting, where appropriate rapid therapy for critically ill patients is essential. Rapid availability of genotype diagnostic test results is crucial, along with clinicians’ ability to interpret these results for effective therapy. Third, PGx-related parameters can be influenced by factors other than genomics, such as fluctuating illness severity and both acute and chronic blood volume, conditions affecting organ function. Most PGx studies have involved healthy volunteers or patients with single disease states, making it difficult to generalize findings to critically ill patients [7, 46]. Fourth, the necessary polypharmacy in the ICU, where patients often receive multiple medications, complicates PGx interpretation due to potential drug-drug interactions [47]. Unfortunately, in this study we must rely on deleterious prediction for the variants, in lieu of functional data that would indicate a change in drug metabolism efficiency in these patients. That is a valuable concept for a future study, while in this study our focus is on “predicted” impact on drug metabolism In summary, whole genome sequencing of ICU patients compared to the PGx knowledge of the drugs commonly used in the ICU has demonstrated the high risk of the ICU patient to inaccurate dosing based on the individual’s genome of drug metabolizing genes. The challenge for the future is to develop a technology that can rapidly and accurately identify the genomic variants of the ICU patient to inform precision therapeutic dosing. For now, the data in the present study identifies specific drugs that are commonly used in the ICU and for which genomic analysis reveals a high probability that the encoding genes for enzymes that metabolize these drugs have variants that influence the metabolism of these drugs. Until the technology is developed to rapidly assess PGx risk in the ICU, at a minimum, the identification in the present study of which ICU drugs are most likely affected by PGx variants can help guide the ICU staff to pay attention to the effectiveness and/or toxicity associated with these drugs.

    Impact of population-specific pharmacogenomic variants on drug dosing in ICU patients · 2026 · DOI

  • In addition, This study’s limitations are of reliance on self-reported data, which may be subject to socially desirable bias, or the limited awareness of participants about their knowledge and attitude. the cross-sectional design does not allow to derive cause-effect relationships between variables. Longitudinal studies in the future would be able to further elucidate how the education actually improves the knowledge and practices of healthcare professionals in the long term regarding pharmacogenomics.

    <b>ADVANCING PRECISION MEDICINE: THE ROLE OF PHARMACOGENOMICS IN PERSONALIZED DRUG THERAPY</b> · 2026 · DOI

  • At the present time, the Food and Drug Administration (FDA) guidelines remain sparse in regards to pharmacogenomic testing but, despite this, direct-to-consumer testing is widely available.

    Pharmacogenomics: introduction and use in clinical practice · 2020 · DOI

  • Coverage and reimbursement policies for pharmacogenomic interventions lack clarity regarding which payers will cover these services, at what rates, and under what clinical circumstances. Current mechanisms do not systematically assess the economic value of pharmacogenomic testing from a societal perspective, creating ambiguity for industry investment decisions and clinical implementation.

    Personalized Medicine and the Practice of Medicine in the 21st Century · 2020 · DOI

  • Studies on vitamin D metabolism by P450 enzymes (25-hydroxylase, 1α-hydroxylase, 24-hydroxylase) document inactivating mutations in 1α-hydroxylase causing pseudovitamin D-deficiency rickets, but do not systematically characterize how genetic variants in 25-hydroxylase or 24-hydroxylase affect vitamin D bioavailability or calcium homeostasis in patient populations.

    Cytochrome P450 research and The Journal of Biological Chemistry · 2019 · DOI

  • The characterization of steroid 11β-hydroxylase and 17α-hydroxylase P450 enzymes includes substrate specificity data, but the excerpt does not address how ACTH-mediated gene expression regulation of these enzymes integrates with post-translational modifications or protein-protein interactions with electron transfer partners in adrenocortical mitochondria.

    Cytochrome P450 research and The Journal of Biological Chemistry · 2019 · DOI

  • Multiple studies document genetic polymorphisms in drug-metabolizing P450 enzymes (mephenytoin 4-hydroxylase, debrisoquine/sparteine type) associated with variable drug hydroxylation capacity, but the excerpt does not specify whether functional consequences of these polymorphisms have been characterized in human hepatocytes from individuals with different allelic variants.

    Cytochrome P450 research and The Journal of Biological Chemistry · 2019 · DOI

  • The referenced studies characterize individual retinoic acid-metabolizing P450 enzymes (CYP26C1, CYP27C1) and their substrate preferences for 9-cis versus all-trans isomers, but do not address the kinetic competition between these enzymes when both retinoic acid isomers are simultaneously present in vivo, or their differential regulation during development and differentiation.

    Cytochrome P450 research and The Journal of Biological Chemistry · 2019 · DOI

  • The excerpt documents multiple cytochrome P450 isoenzymes involved in arachidonic acid metabolism (CYP2J2, CYP4F2, CYP4A11) and their tissue-specific expression patterns, but lacks systematic comparative analysis of their substrate selectivity and regioselectivity across different tissue types beyond heart and kidney, particularly in tissues where these enzymes are also expressed.

    Cytochrome P450 research and The Journal of Biological Chemistry · 2019 · DOI

  • Pharmacogenetic tests, such as GeneSight Psychotropic and the Genecept Assay, are being marketed directly to patients and prescribers despite a relative lack of evidence to support their clinical validity or utility.

    Pharmacogenetic Testing in Psychiatry: Not (Quite) Ready for Primetime · 2014 · DOI

  • Much of the knowledge on substrate specificity and genetic identification of the various CYP isoforms is derived from research in rodents and humans and only limited information has been captured in the dog.

    Challenges in exploring the cytochrome P450 system as a source of variation in canine drug pharmacokinetics · 2013 · DOI

  • The barriers to wider adoption and implementation of PGx include lack of education and understanding by prescribing physicians regarding the available tests, lack of consensus guidelines on interpretation and use of genotype results and scarcity of randomized controlled trials demonstrating the clinical utility of PGx testing.

    Clinical pharmacogenomics and concept of personalized medicine / Klinička farmakogenomika i koncept personalizovane medicine · 2012 · DOI

  • Future research should explore integrating secondary pharmacology panels and gene expression perturbation data to refine ADR predic- tions further.

    A genomic-led strategy to anticipate drug safety effects · 2026 · DOI

  • Increased awareness of the common use of these CYP2C9 inhibitors and further research into the genetic architecture underlying herbal remedy use are warranted.

    Survey to inform personalised prescribing in a British South Asian community: pharmacogenomics and traditional medicine use · 2026 · DOI

  • adoption Herein is the first step toward educating healthcare practitioners on the relevance of pharmacogenomics and its implementation in clinical practice to maximize patients' efficacy and safety; future studies should evaluate the efficiency of such oriented educational courses on healthcare practitioners' knowledge. Moreover, investigations concerning the application of pharmacogenomics into clinical decision-making systems may yield important learning of the practical aspects of the clinical advantage of individualized drug therapy. It is also essential to expand research on institutional-level barriers to adopting pharmacogenomics to facilitate its widespread implementation.

    <b>ADVANCING PRECISION MEDICINE: THE ROLE OF PHARMACOGENOMICS IN PERSONALIZED DRUG THERAPY</b> · 2026 · DOI

  • Limited data exists for African populations, despite the fact that this knowledge is critically important for these populations who experience a heavy burden of communicable and non-communicable diseases.

    Cytochrome P450 pharmacogenetics in African populations · 2013 · DOI

  • Pharmacogenomic research of cardiovascular medicine in the majority of cases has provided conflicting results thus delaying the implementation of genetic testing to create genotype-based medication dosing algorithms.

    Pharmacogenomics: a perspective of personalized medicine in CHD treatment as a model · 2011 · DOI

  • It remains unclear whether personalized medicine or individualized drug therapy will ever be achievable by means of DNA testing alone.

    From Human Genetics and Genomics to Pharmacogenetics and Pharmacogenomics: Past Lessons, Future Directions · 2008 · DOI

  • Although the relationship of CYP2C19 polymorphism to citalopram disposition has been studied in healthy subject, this relationship in combination with dynamic effects (clinical adverse effect of citalopram) has not been well studied in patients.

    Phenotype-genotype Relationship and Clinical Effects of Citalopram in Chinese Patients · 2006 · DOI

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33 open questions have been extracted from the limitations and future-work passages of 308 Pharmacogenetics and Drug Metabolism papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

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