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Presymptomatic risk assessment for chronic non-communicable diseases.

ABSTRACT: The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for pre-symptomatic risk assessment. Common single nucleotide polymorphisms (SNPs) that tag risk haplotypes across the genome currently account for a non-trivial portion of the germ-line genetic risk and we will likely continue to identify the remaining missing heritability in the form of rare variants, copy number variants and epigenetic modifications. Here, we describe a novel measure for calculating the lifetime risk of a disease, called the genetic composite index (GCI), and demonstrate its predictive value as a clinical classifier. The GCI only considers summary statistics of the effects of genetic variation and hence does not require the results of large-scale studies simultaneously assessing multiple risk factors. Combining GCI scores with environmental risk information provides an additional tool for clinical decision-making. The GCI can be populated with heritable risk information of any type, and thus represents a framework for CNCD pre-symptomatic risk assessment that can be populated as additional risk information is identified through next-generation technologies.

SUBMITTER: Padhukasahasram B

PROVIDER: S-EPMC3013091 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Presymptomatic risk assessment for chronic non-communicable diseases.

Padhukasahasram Badri B Halperin Eran E Wessel Jennifer J Thomas Daryl J DJ Silver Elana E Trumbower Heather H Cargill Michele M Stephan Dietrich A DA

PloS one 20101231 12

The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for pre-symptomatic risk assessment. Common single nucleotide polymorphisms (SNPs) that tag risk haplotypes across the genome currently account for a non-trivial portion of the germ-line genetic risk and we will likely continue to identify the remai ...[more]

PMID: 21217814

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Presymptomatic risk assessment for chronic non-communicable diseases.

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Presymptomatic risk assessment for chronic non-communicable diseases.

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