Gil McVean

Ph.D.

Genomics plc

Chief Scientific Officer

PLCO (Learn more about this study)

PLCO-1106

Nov 22, 2022

Investigating polygenic prediction of cancer risk and cancer-related phenotypes

Genomics plc aims to transform the discovery and development of new medicines using the power of genomics and to bring genomic prevention to healthcare, improving the health of entire populations through the advanced estimation of personal disease risk. Our in-house research engine contains the largest collection of human genotype and phenotype data available, and we are continuously seeking to expand it to help meet our goals.

One area of focus for Genomics plc is the generation of polygenic risk scores (PRSs) to inform personalised treatment and screening pathways across a wide range of diseases, including common cancers.

Our prostate cancer PRS identifies men who are most likely to develop the disease. To optimise the clinical value of the PRS, we would like to use the rich PLCO dataset to assess the relationships between our PRS and PSA level, DRE outcome, cancer stage and Gleason score. We would also like to see whether the PRS is differentially associated with screen-detected or interval cancers. Similarly, we would like to assess whether our ovarian cancer PRS is associated with CA-125 levels.

For colorectal cancer, we would like to use the PLCO dataset to test the association between our colorectal PRS and flexible sigmoidoscopy outcomes, between PRS and the occurrence of polyps of different sizes and histologies, and between PRS and cancer stage.

For all of the above analyses, we would particularly value the opportunity to include more individuals with non-European ancestries in our PRS validation