Role of patient advocacy in public health screening for hereditary breast and ovarian cancer, lynch syndrome, and familial hypercholesterolemia

We often hear that, other than newborn screening programs, genetics isn't yet ready for prime time in public health practice. Yet the evidence is clear that strategies such as 'Cascade Screening' exist that can save lives and prevent disease. When an individual is diagnosed with an autosomal dominant condition, cascade screening allows the identification of other affected family members through testing. Targeted cascade screening has the potential to provide a higher rate of identification than general population screening. Applying what we know today in Hereditary Breast and Ovarian Cancer, Lynch Syndrome (otherwise known as Hereditary Nonpolyposis Colorectal Cancer), and Familial Hypercholesterolemia could help us identify the estimated two million individuals in the US population who have one of these three conditions, most of whom are unaware of their risk. Through screening, we can catch individuals before they develop cancer or heart disease and offer them preventive strategies.

And yet, our current public health and medical system is not set up to effectively reach family members and conduct screening, especially in instances where economic or cultural barriers exist. And, issues such as privacy, stigma, misinformation, and insufficient coverage are serious deterrents to the use of genetic testing. Because of this fact, innovative strategies must be explored that harness the strength of patients, providers, and public health practitioners. This session will explore existing patient advocacy-led initiatives to identify and screen at-risk family members and will describe ways in which these projects could be amplified through existing clinical and public health infrastructure.