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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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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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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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Principles of Pharmacogenetics: Types of Genetic Variants01:27

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Clinical Trials: Overview01:11

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Clinical development focuses on how the drug will interact with the human body and encompasses four key phases of clinical trials, each serving a specific purpose in assessing the safety and effectiveness of new drugs. These phases overlap and build upon one another. Phase I involves a small group of healthy volunteers (typically 20-80 individuals) or, in cases where significant toxicity is expected, patients with the targeted disease, such as cancer or AIDS. The volunteers are tested for...
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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.
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Related Experiment Video

Updated: Apr 27, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Genetics patients' perspectives on clinical genomic testing.

Michelle L McGowan1, Allison Glinka2, Janelle Highland3

  • 1Department of Bioethics, Case Western Reserve University, Cleveland, OH, USA ; Center for Genetic Research Ethics & Law, Case Western Reserve University, Cleveland, OH, USA.

Personalized Medicine
|June 24, 2014
PubMed
Summary

Patients and caregivers are enthusiastic about clinical genomic testing for diagnosis and medical benefits, but also express concerns about potential emotional and psychosocial burdens. Understanding these views is crucial for personalized medicine.

Keywords:
clinical genomic testinggenetics patientnext-generation sequencingpatient attitudesqualitative research

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Area of Science:

  • Genomics
  • Personalized Medicine
  • Patient Care

Background:

  • Next-generation sequencing advances enable new genomic tools for patient care.
  • Genomic testing offers potential diagnostic and therapeutic benefits.

Purpose of the Study:

  • To explore patient and caregiver perspectives on clinical genomic testing.
  • To understand views on the promises and perils of genomic technologies in healthcare.

Main Methods:

  • Conducted 51 interviews with patients and parents of pediatric patients.
  • Interviews focused on experiences seeking genetic evaluation at an academic medical center.

Main Results:

  • Participants expressed enthusiasm for diagnostic and medical benefits of genomic testing.
  • Concerns were raised regarding emotional and psychosocial burdens associated with genomic testing.

Conclusions:

  • Clarifying patient and caregiver views is essential for implementing genomic testing.
  • Findings can help anticipate patient reactions to personalized medicine advancements.