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Evaluation of the genetic test components
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Shahram Nemati   |
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Abstract: (986 Views) |
The sequencing of human genome leads to obtain an important data on genetic elements having a crucial role in the molecular pathology of genetic disorders. This is the reason of introducing genetic tests to medical field. Genetic testing looks for changes at chromosomes, genes and protein level to detect heritable conditions for clinical purposes. Genetic tests used in routine practice are vary in their accuracy and ability for improving patients outcomes. Regarding this, the ACCE from 2000-2004 is founded by CDC (Center for disease control and prevention) to assess accuracy, quality and usefulness of genetic tests. The ACCE taking its name from the four key components for assessing of genetic tests: Analytic validity which refers to the potential of test for accurate and reliable detection of the genotype of interest. Clinical validity which refers to the ability of genetic tests for finding associated phenotype (genotype-phenotype correlation). Clinical utility denotes the test usefulness in medical practice and clinical endpoints. Ethical, legal and social implication of genetic test explains the concerns such as insurance discrimination and stigmatization which can arise after genetic tests. This article focuses on the explanation of these elements in more detail and determination of their importance in genetic test selection and interpretation. |
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| Keywords: Genetic Tests, Analytic Validity, Clinical Validity, Clinical Utility |
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Full-Text [PDF 482 kb]
(761 Downloads)
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Type of Study: Review |
Subject:
ژنتیک
Received: 2022/12/15 | Accepted: 2022/12/15 | Published: 2022/12/15
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