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Related Concept Videos

Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Pharmacogenetics and Pharmacogenomics: Overview01:29

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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Issues And Trends In Healthcare Delivery System01:29

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The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Genomics in Health and Biomedicine.

Maria Luís Cardoso1,2, Hugo Martiniano1,2, Luisa Mota-Vieira2,3

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Summary
This summary is machine-generated.

Genomic medicine is revolutionizing healthcare by enabling personalized diagnosis, treatment, and prevention strategies. Integrating genetic data with other health information enhances clinical decisions for better patient outcomes.

Keywords:
Cancer genomicsData governanceGenomicsPersonalized medicinePharmacogenomicsPolygenic risk scoresRare diseases

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Area of Science:

  • Genomic Medicine
  • Personalized Healthcare
  • Bioinformatics

Background:

  • Genomic information is crucial for personalized medicine, transforming clinical practice.
  • Advances in sequencing, data integration, and bioinformatics enable tailored healthcare solutions.
  • Integration with EHRs, mHealth, and AI enhances clinical decision-making.

Purpose of the Study:

  • To explore the role of genomics in personalized medicine.
  • To highlight applications in oncology, rare diseases, and pharmacogenomics.
  • To discuss challenges and priorities for advancing genomic healthcare.

Main Methods:

  • Review of current genomic medicine applications.
  • Analysis of data integration strategies (clinical, lifestyle, environmental).
  • Examination of technological enablers (sequencing, AI, mHealth).

Main Results:

  • Genomics facilitates earlier diagnosis, precise treatment, and risk prediction.
  • Polygenic risk scores are increasingly relevant for chronic diseases.
  • International initiatives promote collaboration and standardization in genomic healthcare.

Conclusions:

  • Genomic medicine offers transformative potential for earlier diagnosis, precise treatment, and prevention.
  • Equitable implementation requires harmonized data governance, infrastructure, training, and public engagement.
  • Addressing challenges is key to advancing the future of personalized genomic healthcare.