From the earliest recognition of families with a high rate of cancer over 100 years ago, researchers have been
focused on the genetic underpinnings of inherited cancers; however, identification remains a significant
challenge due to persistent barriers across patient, provider and health system stakeholders, despite recent
advances in the development of electronic medical records (EMR) and risk prediction tools that use family
health history (FHH) information. Innovations in bioinformatic technology hold great promise in overcoming
many of these barriers, particularly with the development of FHH applications that collect and analyze family
data, and SMART-on-FHIR capabilities that can integrate third party apps with the EMR. MeTree, a patient
facing risk assessment platform for 23 hereditary cancer syndromes with integrated education and evidence-
based clinical decision support, is one such platform that served as the backbone of the Implementing
Genomics in Practice (IGNITE) network's FHH clinical utility study, where it demonstrated improvements in the
identification of those at risk, yet, also highlighted ongoing challenges particularly around undergoing genetic
counseling and testing, and awareness of risk. We submit that these barriers can be overcome and that we
can significantly improve identification and management of those at risk for hereditary cancer syndromes by
bringing together a single clinical care platform that contains: a patient-facing risk assessment program
integrated into the EMR, automated risk calculation with clinical decision support for patients and physicians for
multiple hereditary cancer syndromes, systematic assessment of risk across a variety of clinic settings,
guidance and education on family health history, genomics, risk management, and cascade screening, and an
implementation sciences framework to allow us to build a novel and scalable clinical care paradigm for
hereditary cancer risk assessment and risk management. To do this we will: 1) deploy a care delivery model
that will facilitate systematic risk assessment for hereditary cancers in diverse clinical environments
(in primary care and cancer care clinics at two different medical centers) in a randomized controlled trial of
4000 patients; 2) improve access to genetic healthcare providers for participants at risk for hereditary
cancer syndromes by deploying the care delivery model in the cancer genetic counseling clinics in a
randomized controlled trial of 300 patients; and 3) explore the feasibility of our care delivery model to
improve family engagement for cancer risk assessment for patients who are found to have cancer gene
variants or strong family histories of cancer.
Wiesner GL and Orlando LA 1
If you are accessing this page during weekend or evening hours, the database may currently be offline for maintenance and should operational within a few hours. Otherwise, we have been notified of this error and will be addressing it immediately.
Please contact us
if this error persists.
We apologize for the inconvenience.
- The DCCPS Team.