As polygenic risk scores mature, opportunities emerge for disease interception

How polygenic risk scores could help find clues to interrupting disease mechanisms before symptoms start

With comprehensive genetic risk profiling inching closer to clinical use, the biggest opportunity for drug developers could be the new territory it opens up in disease prevention and interception, particularly for common diseases.

Much of industry has piled into Orphan diseases, which are often caused by mutations in single genes, leaving more prevalent, complex diseases lagging.

BioCentury’s 2018 Back to School issue identified disease prediction, prevention and interception as key for creating a new model of drug development that goes beyond Orphan diseases to address population health, and generates value throughout the entire care continuum (see “A Pathway to Biopharma 3.0”).

Metrics called polygenic risk scores could help create this change by identifying individuals at risk for common diseases, before symptoms set in.

A polygenic risk score reflects a person’s overall genetic risk for a disease. The metric takes the complex genetic architecture of common diseases, which are typically influenced by many genes, and simplifies it into a single readout (see “Everyone Counts in GWAS” ; “Bundled Inheritance”).

“As we learn more about human genetics, we’re learning it’s a highly complex, polygenic architecture. Thousands of variants scattered across the genome are contributing in small, incremental

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