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Presymptomatic Risk Assessment for Chronic Non-Communicable Diseases

Author

Listed:
  • Badri Padhukasahasram
  • Eran Halperin
  • Jennifer Wessel
  • Daryl J Thomas
  • Elana Silver
  • Heather Trumbower
  • Michele Cargill
  • Dietrich A Stephan

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.

Suggested Citation

  • Badri Padhukasahasram & Eran Halperin & Jennifer Wessel & Daryl J Thomas & Elana Silver & Heather Trumbower & Michele Cargill & Dietrich A Stephan, 2010. "Presymptomatic Risk Assessment for Chronic Non-Communicable Diseases," PLOS ONE, Public Library of Science, vol. 5(12), pages 1-15, December.
    • Handle: RePEc:plo:pone00:0014338
    DOI: 10.1371/journal.pone.0014338
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    References listed on IDEAS

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    1. Abdallah S. Daar & Peter A. Singer & Deepa Leah Persad & Stig K. Pramming & David R. Matthews & Robert Beaglehole & Alan Bernstein & Leszek K. Borysiewicz & Stephen Colagiuri & Nirmal Ganguly & Roger , 2007. "Grand challenges in chronic non-communicable diseases," Nature, Nature, vol. 450(7169), pages 494-496, November.
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