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Current Pharmacogenomics and Personalized Medicine (Formerly Current Pharmacogenomics) - Current Issue

Volume 21, Issue 2

Volume 21, Issue 2, 2024

    • Genomic Medicine: Perspective of the Challenges for the Implementation of Preventive, Predictive, and Personalized Medicine in Latin America

      https://doi.org/10.2174/0118756921304274240819071740

      Genomic information plays an essential role in personalized medicine, with the main objective of determining risk and predisposition to disease, as well as guiding diagnosis, selection, and prioritization of therapeutic options, and even predicting prognosis. Research in the second half of the 20th century allowed genomics to move from the laboratory to clinical practice. The Human Genome Project showed the structure of the genome, the genes, and several of their regulatory pathways, which allowed obtaining exact knowledge about the molecular origin of a growing number of diseases and the development of next-generation sequencing technologies. In the second decade of the 21st century, the decrease in testing costs has allowed genomic medicine to begin to be applied in hospital institutions and outpatient services with a positive impact on public health. However, it has been evidenced that these potential benefits have not been experienced equitably throughout the world. This commentary explores the main challenges and obstacles to the implementation of genomic medicine services in order to expand their use as part of clinical practice in the Latin American context. Finally, six main barriers have been identified: i) high costs and poor access, ii) lack of trained personnel in the genomic field, iii) negative personal and social beliefs, iv) lack of representation of Latin American populations in genomic databases, v) scarce evidence of impact on clinical practice, and vi) lack of understanding of genomic test results by patients and clinicians.

    • Navigating the Future of PCOS Treatment: The Precision Medicine Paradigm

      https://doi.org/10.2174/0118756921331801240820115132

      Polycystic Ovary Syndrome (PCOS) is a condition affecting women of reproductive age, characterized by a heterogeneous array of symptoms. This study aims to examine the role of Precision and Personalized Medicine (PPM) in managing PCOS, given the diverse manifestations of the disease and any genetic factors involved. In this review, we have analyzed the existing literature on the heterogeneity in PCOS symptoms, efforts to acquire PPM data for the characterization of molecular changes in PCOS, and the impact of advances in artificial intelligence on precision medicine. PCOS symptoms present differently in each individual, making traditional therapies ineffective. By tailoring treatment to each individual's genetic and molecular profile, PPM offers a promising approach to address the complex nature of PCOS. Understanding PCOS molecular underpinnings requires continuous acquisition of PPM data. Advances in artificial intelligence have greatly enhanced precision medicine's potential applications. Precision medicine could become a standard component of PCOS care, similar to its application in treating serious conditions like cancer and heart disease, due to its ability to address the condition's complexity through individualized treatment approaches.

    • Association of Single Nucleotide Polymorphism in and Genes with the Efficacy of Metformin Response in North Indian Type 2 Diabetes Mellitus Patients

      https://doi.org/10.2174/0118756921316739240816095335
      Introduction

      Variability in the effectiveness of metformin treatment among individuals with type 2 diabetes mellitus (T2DM) has been linked to various genetic factors. Understanding the genetic mechanisms underlying the action of metformin can greatly aid the personalized management of T2DM. Our investigation aimed to explore the impact of genetic variations in the organic cation transporters () genes on the efficacy of metformin therapy in T2DM individuals from North India.

      Methods

      This observational cross-sectional study assessed the influence of (rs628031) and (rs2292334) polymorphisms on metformin response in T2DM patients. Metformin response was determined based on HbA1c levels, dividing patients (n = 177) into two categories: responders (HbA1C<7%; n = 127) and non-responders (HbA1C≥7%; n = 50). Responders were further classified as T2DM patients receiving either monotherapy (n = 55) or combination therapy (n = 72). Genotyping was conducted using the PCR-RFLP method.

      Results

      No significant association was observed between (rs628031) polymorphism and metformin response in T2DM patients. However, a notable association was found between (rs2292334) polymorphism and metformin response. Carriers of the AA genotype exhibited enhanced efficacy of metformin in both monotherapy (OR (CI)= 0.29(0.11-0.72), =0.007) and combination therapy (OR (CI)= 0.41(0.16-1.0), =0.047). Additionally, the A allele was more prevalent in responders (OR (CI)= 0.48(0.28-0.84), =0.010), while the G allele was associated with reduced efficacy of metformin in T2DM patients (OR (CI)= 2.07(1.19-3.61), =0.010).

      Conclusion

      Genotyping of (rs2292334) may serve as a valuable tool in predicting the response to metformin in T2DM patients.

    • Estrogen Receptor-α Polymorphism Influences Bone Mineral Density in Women Over 60 Years of Age and Women Who are Postmenopausal for More than 10 Years

      https://doi.org/10.2174/0118756921315583240906100230
      Background

      Osteoporosis is a multifactorial disorder where genetic and environmental factors contribute to changes in bone mineral density. Several genetic polymorphisms are associated with low bone mineral density and osteoporosis risk, including estrogen receptor-α and single nucleotide polymorphisms.

      Objective

      To determine the allele frequencies of these polymorphisms among postmenopausal Jordanian women and to assess their association with low bone mineral density and osteoporosis among studied subjects.

      Methods

      This cross-sectional study enrolled 450 postmenopausal Jordanian women having dual-energy X-ray absorptiometry scans at the National Center for Diabetes, Endocrinology, and Genetics. The study protocol was approved by this center “Institutional Review Board.” The estrogen receptor-α gene sequence containing and polymorphisms was identified by polymerase chain reaction, followed by restriction fragment length polymorphism.

      Results

      The wild-type allele frequencies of () and () were 54% and 59%, respectively. The genotype was significantly associated with lower femoral neck T-scores in women who were postmenopausal for more than 10 years ( = 0.023) and was significantly associated with lower lumbar spine ( = 0.033) and femoral neck ( = 0.002) T-scores in women older than 60 years of age. However, there was no association between , , or their haplotypes with osteoporosis or bone mineral density T-score values. The two polymorphisms were in Hardy-Weinberg equilibrium and exhibited strong but incomplete linkage disequilibrium.

      Conclusion

      The data suggest that polymorphism may render some women more susceptible to osteoporosis than others.

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