InheRET: A SaaS solution to identifying patients at increased risk for hereditary disease - Project Summary
This project is to complete the development, integration with the electronic medical record and human testing
of the InheRET Inherited Risk Evaluation Tool. InheRET’s aim is to quickly and easily identify individuals at
increased risk for hereditary diseases, thereby facilitating their to access downstream risk-appropriate care,
reducing morbidity and mortality. InheRET’s unique features reduces clinical ascertainment barriers by
gathering a patient provided family history, produces a report based on patient and family history that
streamlines workflows and enhances patient outcomes and cost effectiveness within health systems. The aims
for this project are to complete in silico (computer generated) testing of the algorithms driving the InheRET
data analytics for the case of cancer risk, followed by pilot testing in a variety of clinical settings to determine if
further refinements are needed to the product, prior to commercialization. As part of this STTR project, we will
integrate the InheRET program with an EPIC electronic health record system to seamlessly communicate
InheRET reports within the patient medical records, to be accessible to both patient and practitioner. Success
will be determined if we achieve 100% concordance with the in silico testing (i.e. concluding that all algorithms
function correctly), 98% concordance with clinical determinations in the clinical pilot testing, and 100%
concordance in the integration testing (all patient reports are appropriately routed to the proper medical
records). Our primary objective is to produce an accurate, easy-to-use and understandable report to ensure
individuals who may unknowingly harbor inherited genetic mutations are identified, thereby enabling them to
access genetic counselors and testing along with appropriate downstream care. By doing so, patients can
reduce their risk of disease, receive tailored treatment if they incur disease, and reduce overall mortality.
Moreover, InheRET will cut costs by assisting in focusing resources on those whose risk warrants enhanced
measures. Conversely, by reducing incidence of hereditary cancers or the advanced presentation of cancers or
other hereditary chronic illnesses, a multitude of costs associated with complex treatments can likewise be
reduced, while increasing quality and length of life.
