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 journalArticlepeer-review


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
Issue number12
StatePublished - 2010


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