The Limits of Genomic Science: What We Don't Know

Genomic science has advanced rapidly, but most of the human genome's function remains poorly understood. A Variant of Uncertain Significance (VUS) in ClinVar means insufficient evidence exists to classify a variant as pathogenic or benign.

Polygenic Risk Score Limitations

Most GWAS discoveries explain only a small fraction of disease heritability. Polygenic risk scores from GWAS Catalog associations capture population-level statistics, not individual destiny. Environmental factors, lifestyle, and gene-gene interactions are not captured. Read about how GWAS works.

Population Diversity Gaps

The majority of published GWAS studies sampled European-ancestry participants. Risk estimates may be less accurate for individuals of African, Asian, or mixed ancestry. GenomeNarrator uses ancestry-matched allele frequencies from gnomAD v4.1 where available. Return to GenomeNarrator or analyze your genome.