Criteria Used by Medical Labs in the United States to Assess Variant Pathogenicity in Genetic Testing Results
Summary
- Medical labs in the United States use a variety of criteria to determine variant pathogenicity in Genetic Testing results.
- These criteria often include population frequency, computational predictive tools, functional studies, and segregation analysis.
- Understanding how medical labs assess variant pathogenicity is crucial for accurate diagnosis and treatment in Genetic Testing.
Introduction
Genetic Testing has become an essential tool in diagnosing and treating a variety of medical conditions. As technology advances, medical labs in the United States are faced with the challenge of determining the pathogenicity of genetic variants detected in testing results. In this article, we will explore the criteria that medical labs use to assess variant pathogenicity in Genetic Testing results.
Population Frequency
One of the key criteria that medical labs use to determine variant pathogenicity in Genetic Testing results is population frequency. Variants that are commonly found in the general population are less likely to be pathogenic. On the other hand, variants that are rare or absent in the population are more likely to be pathogenic. Medical labs use databases such as the Exome Aggregation Consortium (ExAC) and the Genome Aggregation Database (gnomAD) to determine the frequency of variants in the population.
Computational Predictive Tools
Medical labs also rely on computational predictive tools to assess variant pathogenicity in Genetic Testing results. These tools use algorithms to predict the impact of genetic variants on protein function. Commonly used tools include SIFT, PolyPhen-2, and CADD. By inputting the genetic variant data into these tools, medical labs can gain insight into the potential pathogenicity of the variant.
Functional Studies
In addition to population frequency and computational predictive tools, medical labs may conduct functional studies to assess variant pathogenicity in Genetic Testing results. These studies involve testing the impact of the genetic variant on protein function in a laboratory setting. Functional studies can provide valuable information about the biological effects of a variant and help determine its pathogenicity.
Segregation Analysis
Another criterion that medical labs use to determine variant pathogenicity in Genetic Testing results is segregation analysis. This involves analyzing the inheritance pattern of the variant within a family to determine its pathogenicity. If the variant segregates with the disease phenotype in multiple affected family members, it is more likely to be pathogenic. Segregation analysis can provide important evidence for the pathogenicity of a genetic variant.
Conclusion
Understanding the criteria that medical labs use to determine variant pathogenicity in Genetic Testing results is crucial for accurate diagnosis and treatment. By considering population frequency, computational predictive tools, functional studies, and segregation analysis, medical labs can effectively assess the pathogenicity of genetic variants and provide valuable information to Healthcare Providers and patients.
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