Genomic markers for decision making: what is preventing us from using markers?
Vicky M Coyle1, Patrick G Johnston
1Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast BT9 7BL, UK.
Nature Reviews. Clinical Oncology
|December 17, 2009
Summary
Novel genomic technologies are transforming cancer research, but challenges in study design hinder the clinical use of genomic markers. A focused approach with robust validation and adaptive trials is crucial for personalized cancer therapy.
Area of Science:
- Oncology
- Genomics
- Biomarker Research
Background:
- Genomic technologies enable genome-wide analysis of alterations in solid tumors.
- Shift from single to multiple genomic marker evaluation in clinical studies.
- New challenges arise in study design, reproducibility, and interpretation of genomic markers.
Approach:
- Review explores challenges in genomic marker research, focusing on microarray-based gene-expression profiling.
- Highlights common study design flaws impacting clinical utility of genomic markers.
- Discusses the need for rational evaluation and validation of genomic markers.
Key Points:
- Despite technological advances, few genomic markers are in routine clinical use.
- Analytical validation of markers is essential before clinical investigation.
- Clinical studies require adequate power, pre-defined populations, and endpoints.
Conclusions:
- Novel adaptive clinical trial designs can rigorously evaluate genomic markers.
- Implementation of validated markers can enable tailored cancer therapies.
- Rational and focused approaches are needed for genomic marker validation and clinical integration.
More Related Videos
05:53Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Related Concept Videos
01:29Pharmacogenomics: Identification of New Drug Targets
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...
01:28Human Genetics
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.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:29Pharmacogenetics and Pharmacogenomics: Overview
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...
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
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...
01:11Genome-wide Association Studies-GWAS
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.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...