What is a Polygenic Risk Score (PGS) and Why Does it Matter in Cancer-Associated Thrombosis?

A polygenic risk score is like a “genetic fingerprint” built from thousands of small DNA variations (SNPs). Each variant adds a tiny bit of risk, but when combined, they provide a powerful measure of a person’s inherited predisposition to certain diseases — including blood clots (venous thromboembolism, VTE).

In lung cancer, VTE is one of the leading complications and can worsen prognosis. Traditional risk models (like the Khorana score) often miss patients truly at highest risk.

Our study shows:

Patients in the highest PGS quartile had a significantly higher risk of developing VTE within the first year of diagnosis.

This predictive power held true even when factoring in or excluding well-known mutations like Factor V Leiden or Prothrombin G20210A.

PGS could enable more personalized prophylaxis — giving anticoagulation only to those most likely to benefit, reducing both clotting and bleeding risks.

This is precision medicine in action: moving from “one-size-fits-all” to genetically tailored thrombosis prevention for patients with cancer.

Full article in Lung Cancer:

https://www.sciencedirect.com/science/article/abs/pii/S016950022500604X