Presymptomatic risk assessment for chronic non-communicable diseases

Badri Padhukasahasram, Eran Halperin, Jennifer Wessel, Daryl J. Thomas, Elana Silver, Heather Trumbower, Michele Cargill, Dietrich A. Stephan

Research output: Contribution to journalArticle

10 Citations (Scopus)

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 nextgeneration technologies.

Original languageEnglish
Article numbere14338
JournalPLoS One
Volume5
Issue number12
DOIs
StatePublished - 2010

Fingerprint

noninfectious diseases
Risk assessment
risk assessment
Inborn Genetic Diseases
genetic disorders
Composite materials
Asymptomatic Diseases
Epigenomics
epigenetics
Germ Cells
Haplotypes
single nucleotide polymorphism
infectious diseases
Single Nucleotide Polymorphism
Communicable Diseases
Polymorphism
decision making
germ cells
haplotypes
heritability

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Padhukasahasram, B., Halperin, E., Wessel, J., Thomas, D. J., Silver, E., Trumbower, H., ... Stephan, D. A. (2010). Presymptomatic risk assessment for chronic non-communicable diseases. PLoS One, 5(12), [e14338]. https://doi.org/10.1371/journal.pone.0014338

Presymptomatic risk assessment for chronic non-communicable diseases. / Padhukasahasram, Badri; Halperin, Eran; Wessel, Jennifer; Thomas, Daryl J.; Silver, Elana; Trumbower, Heather; Cargill, Michele; Stephan, Dietrich A.

In: PLoS One, Vol. 5, No. 12, e14338, 2010.

Research output: Contribution to journalArticle

Padhukasahasram, B, Halperin, E, Wessel, J, Thomas, DJ, Silver, E, Trumbower, H, Cargill, M & Stephan, DA 2010, 'Presymptomatic risk assessment for chronic non-communicable diseases', PLoS One, vol. 5, no. 12, e14338. https://doi.org/10.1371/journal.pone.0014338
Padhukasahasram B, Halperin E, Wessel J, Thomas DJ, Silver E, Trumbower H et al. Presymptomatic risk assessment for chronic non-communicable diseases. PLoS One. 2010;5(12). e14338. https://doi.org/10.1371/journal.pone.0014338
Padhukasahasram, Badri ; Halperin, Eran ; Wessel, Jennifer ; Thomas, Daryl J. ; Silver, Elana ; Trumbower, Heather ; Cargill, Michele ; Stephan, Dietrich A. / Presymptomatic risk assessment for chronic non-communicable diseases. In: PLoS One. 2010 ; Vol. 5, No. 12.
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