Population-Based Universal Screening for Lynch Syndrome: Ready, Set… How?

Joanne Ngeow and
Charis Eng⇑

+ Author Affiliations

Cleveland Clinic Genomic Medicine Institute, Cleveland, OH

Corresponding author: Charis Eng, MD, PhD, Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Ave, NE-50, Cleveland, OH 44195; e-mail: engc@ccf.org.

Although the fields of health care and public health have many evidence-based innovations, the failure to implement health interventions that have been rigorously demonstrated to be cost effective hampers health care delivery.^1,2 The identification of individuals who are at increased risk of hereditary cancer allows for the possibility of heightened surveillance and early cancer detection, resulting in decreased disease-specific mortality.³ Such data-driven identification and risk stratification to guide management is one of the foundations of value-based health care delivery.⁴ However, it is not always easy to identify those in the general population who may be at increased risk. As clinicians, we rely on our collective observations and clinical acumen to identify patients with observed clinical red flags that signal heritable cancers. However, clinical criteria may not be optimal, either because it is not sufficiently sensitive or because of a lack of clinical utility in a public health setting.