Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

The Healthy Oregon Project (HOP) is a statewide effort that aims to build a large research repository and influence the health of Orego-nians through providing no-cost genetic screening to participants for a next-generation sequencing 32-gene panel comprising genes related to inherited cancers and familial hypercholesterolemia. This type of unbiased population screening can detect at-risk individuals who may otherwise be missed by conventional medical approaches. However, challenges exist for this type of high-throughput testing in an academic setting, including developing a low-cost high-efficiency test and scaling up the clinical laboratory for processing large numbers of samples. Modifications to our academic clinical laboratory including efficient test design, robotics, and a streamlined anal-ysis approach increased our ability to test more than 1,000 samples per month for HOP using only one dedicated HOP laboratory tech-nologist. Additionally, enrollment using a HIPAA-compliant smartphone app and sample collection using mouthwash increased effi-ciency and reduced cost. Here, we present our experience three years into HOP and discuss the lessons learned, including our successes, challenges, opportunities, and future directions, as well as the genetic screening results for the first 13,670 participants tested. Overall, we have identified 730 pathogenic/likely pathogenic variants in 710 participants in 24 of the 32 genes on the panel. The carrier rate for pathogenic/likely pathogenic variants in the inherited cancer genes on the panel for an unselected population was 5.0% and for familial hypercholesterolemia was 0.3%. Our laboratory experience described here may provide a useful model for population screening projects in other states.

Automated summary

The Healthy Oregon Project is a statewide initiative that aims to improve the health of Oregonians by providing no-cost genetic screening for inherited cancers and familial hypercholesterolemia. This unbiased population screening has successfully detected at-risk individuals who may have been missed by conventional medical approaches. The project has faced challenges in terms of developing a cost-effective test and scaling up the clinical laboratory to process a large number of samples.