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Genetic testing: predictive value of genotyping for diagnosis and management of disease.

Ozgüç M - EPMA J (2011)

Bottom Line: This year marks the 10th anniversity of publishing of the sequence of the human genome.As it is usual for all technologies used in health care, bioethical concerns has to be delt with.The ethical, social and governance issues associated with genetic testing are discussed.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

ABSTRACT
This article describes predictive, preventive value of genetic tests and the implication of the use of testing for personalized treatment. This year marks the 10th anniversity of publishing of the sequence of the human genome. One important area of application of this mega project is a development of genetic tests for mutation detection in single gene disorders that has impact for pediatric age group patients and analyzing susceptibility genes as risk factors in common disorders. Types of genetic tests, new emerging technologies will enable developments of high-throughput approaches by microarrays of great application capacity as described here. As it is usual for all technologies used in health care, bioethical concerns has to be delt with. The ethical, social and governance issues associated with genetic testing are discussed.

No MeSH data available.


Basic steps of microarray analysis: The synthetic oligonucleotides are either plotted or directly synthesized on a solid surface that can be described as a “chip” (1). Fluorescent labelled DNA samples can be used for techniques such as SNP analysis, re-sequencing applications or cDNA samples utilized in transcriptomics for gene expression analysis (2). Sequence complementarity between the probe and the sample target allows for hybridization (3). Bioinformatics tools are used to process the generated signals followed by hybridization and washing steps (4)
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Fig1: Basic steps of microarray analysis: The synthetic oligonucleotides are either plotted or directly synthesized on a solid surface that can be described as a “chip” (1). Fluorescent labelled DNA samples can be used for techniques such as SNP analysis, re-sequencing applications or cDNA samples utilized in transcriptomics for gene expression analysis (2). Sequence complementarity between the probe and the sample target allows for hybridization (3). Bioinformatics tools are used to process the generated signals followed by hybridization and washing steps (4)

Mentions: Arrays may be described as chips depicted as in Fig. 1, carrying multiples of assays that allow for testing of tens of thousands of different variants simultaneously, and they are beginning to find wide clinical use [37]. Single nucleotide polymorphism (SNP) genotyping arrays and resequencing are two high throughput examples used to identify genetic variants. HGP has led to the discovery of many SNPs as a source of genetic variation, and genotyping for SNPs has played a major role in international efforts to map for disease susceptibility genes [38].Fig. 1


Genetic testing: predictive value of genotyping for diagnosis and management of disease.

Ozgüç M - EPMA J (2011)

Basic steps of microarray analysis: The synthetic oligonucleotides are either plotted or directly synthesized on a solid surface that can be described as a “chip” (1). Fluorescent labelled DNA samples can be used for techniques such as SNP analysis, re-sequencing applications or cDNA samples utilized in transcriptomics for gene expression analysis (2). Sequence complementarity between the probe and the sample target allows for hybridization (3). Bioinformatics tools are used to process the generated signals followed by hybridization and washing steps (4)
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3405385&req=5

Fig1: Basic steps of microarray analysis: The synthetic oligonucleotides are either plotted or directly synthesized on a solid surface that can be described as a “chip” (1). Fluorescent labelled DNA samples can be used for techniques such as SNP analysis, re-sequencing applications or cDNA samples utilized in transcriptomics for gene expression analysis (2). Sequence complementarity between the probe and the sample target allows for hybridization (3). Bioinformatics tools are used to process the generated signals followed by hybridization and washing steps (4)
Mentions: Arrays may be described as chips depicted as in Fig. 1, carrying multiples of assays that allow for testing of tens of thousands of different variants simultaneously, and they are beginning to find wide clinical use [37]. Single nucleotide polymorphism (SNP) genotyping arrays and resequencing are two high throughput examples used to identify genetic variants. HGP has led to the discovery of many SNPs as a source of genetic variation, and genotyping for SNPs has played a major role in international efforts to map for disease susceptibility genes [38].Fig. 1

Bottom Line: This year marks the 10th anniversity of publishing of the sequence of the human genome.As it is usual for all technologies used in health care, bioethical concerns has to be delt with.The ethical, social and governance issues associated with genetic testing are discussed.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

ABSTRACT
This article describes predictive, preventive value of genetic tests and the implication of the use of testing for personalized treatment. This year marks the 10th anniversity of publishing of the sequence of the human genome. One important area of application of this mega project is a development of genetic tests for mutation detection in single gene disorders that has impact for pediatric age group patients and analyzing susceptibility genes as risk factors in common disorders. Types of genetic tests, new emerging technologies will enable developments of high-throughput approaches by microarrays of great application capacity as described here. As it is usual for all technologies used in health care, bioethical concerns has to be delt with. The ethical, social and governance issues associated with genetic testing are discussed.

No MeSH data available.