Genetic epidemiology

Genetic epidemiology studies how genetic variation contributes to the distribution of health and disease in populations, including how genes interact with environments and behaviors.

Heritability: The proportion of variation in a trait within a population that is attributable to genetic differences under specified conditions. It quantifies population-level genetic contribution without measuring an individual's genetic destiny.
Genetic variation: Differences in DNA sequence among individuals, populations, or species. Population studies compare these differences to assess disease risk.
Polygenic risk score: A numerical estimate of genetic liability calculated by combining many genetic variants weighted by their associations with a trait. It summarizes numerous disease-associated variants into an individual's estimated inherited risk.
Molecular epidemiology: The study of molecular markers and mechanisms in the distribution and causes of disease in populations. It includes molecular exposures and biomarkers beyond inherited genetic variation.
Genetic discrimination: Unfair treatment based on actual or perceived genetic information. Risk estimates and genetic testing can affect access to employment, insurance, or services.
Linkage disequilibrium: The nonrandom association of alleles at different genetic loci in a population. Correlated alleles let studies locate disease-associated variants near causal ones.
Allele: One of two or more alternative forms of a genetic sequence at a particular genomic location. Allele frequencies are the basic quantities compared across populations.
Pharmacogenomics: The study of how genetic variation affects a person's response to drugs. Population evidence identifies genetic differences that can guide medication choices.
Clinical genetics: The medical specialty that diagnoses and manages conditions with genetic causes or contributions. It focuses on individuals and families rather than disease patterns across populations.
Genetic privacy: The control and protection of information about a person's genetic makeup and health risks. Population research relies on sensitive genetic and health data.

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