Clinical implementation of an oncology-specific family health history risk assessment tool.



The presence of hereditary cancer syndromes in cancer patients can have an impact on current clinical care and post-treatment prevention and surveillance measures. Several barriers inhibit identification of hereditary cancer syndromes in routine practice. This paper describes the impact of using a patient-facing family health history risk assessment platform on the identification and referral of breast cancer patients to genetic counselling services.


This was a hybrid implementation-effectiveness study completed in breast cancer clinics. English-literate patients not previously referred for genetic counselling and/or gone through genetic testing were offered enrollment. Consented participants were provided educational materials on family health history collection, entered their family health history into the platform and completed a satisfaction survey. Upon completion, participants and their clinicians were given personalized risk reports. Chart abstraction was done to identify actions taken by patients, providers and genetic counsellors.


Of 195 patients approached, 102 consented and completed the study (mean age 55.7, 100 % women). Sixty-six (65 %) met guideline criteria for genetic counseling of which 24 (36 %) were referred for genetic counseling. Of those referred, 13 (54 %) participants attended and eight (33 %) completed genetic testing. On multivariate logistic regression, referral was not associated with age, cancer stage, or race but was associated with clinical provider (p = 0.041). Most providers (71 %) had higher referral rates during the study compared to prior. The majority of participants found the experience useful (84 %), were more aware of their health risks (83 %), and were likely to recommend using a patient-facing platform to others (69 %).


65 % of patients attending breast cancer clinics in this study are at-risk for hereditary conditions based on current guidelines. Using a patient-facing risk assessment platform enhances the ability to identify these patients systematically and with widespread acceptability and recognized value by patients. As only a third of at-risk participants received referrals for genetic counseling, further understanding barriers to referral is needed to optimize hereditary risk assessment in oncology practices.

Trial registration

NIH Clinical Trials registry, NCT04639934 . Registered Nov 23, 2020 -- Retrospectively registered.





Published Version (Please cite this version)


Publication Info

Fung, Si Ming, R Ryanne Wu, Rachel A Myers, Jasper Goh, Geoffrey S Ginsburg, David Matchar, Lori A Orlando, Joanne Ngeow, et al. (2021). Clinical implementation of an oncology-specific family health history risk assessment tool. Hereditary cancer in clinical practice, 19(1). p. 20. 10.1186/s13053-021-00177-y Retrieved from

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Rebekah Ryanne Wu

Adjunct Associate Professor in the Department of Medicine

Dr. Wu is an internal medicine physician and health services researcher. Her main research interest is studying the implementation of precision medicine applications to improve clinical care. She is involved in projects currently looking at a patient-facing family history risk assessment tool, MeTree, which provides individualized risk stratification and clinical decision support recommendations to clinicians and patients. In addition she is also involved in a large scale sequencing program in Singapore looking at the intersection of family health history and genomics to better understand how these data elements can complement one another and create more precise risk predictions.  She is a member of NHGRI's IGNITE network as a co-investigator on a multi-site pragmatic clinical trial of the impact of pharmacogenetic testing on management of depression and acute, and chronic pain.  She is the implementation science advisor for the VA's Pharmacogenomic Testing for Veterans (PHASER) program, which is working to complete preemptive PGx testing on up to 250,000 Veterans by 2024.


David Bruce Matchar

Professor of Medicine

My research relates to clinical practice improvement - from the development of clinical policies to their implementation in real world clinical settings. Most recently my major content focus has been cerebrovascular disease. Other major clinical areas in which I work include the range of disabling neurological conditions, cardiovascular disease, and cancer prevention.
Notable features of my work are: (1) reliance on analytic strategies such as meta-analysis, simulation, decision analysis and cost-effectiveness analysis; (2) a balancing of methodological rigor the needs of medical professionals; and (3) dependence on interdisciplinary groups of experts.
This approach is best illustrated by the Stroke Prevention Patient Outcome Research Team (PORT), for which I served as principal investigator. Funded by the AHCPR, the PORT involved 35 investigators at 13 institutions. The Stroke PORT has been highly productive and has led to a stroke prevention project funded as a public/private partnership by the AHCPR and DuPont Pharma, the Managing Anticoagulation Services Trial (MAST). MAST is a practice improvement trial in 6 managed care organizations, focussing on optimizing anticoagulation for individuals with atrial fibrillation.
I serve as consultant in the general area of analytic strategies for clinical policy development, as well as for specific projects related to stroke (e.g., acute stroke treatment, management of atrial fibrillation, and use of carotid endarterectomy.) I have worked with AHCPR (now AHRQ), ACP, AHA, AAN, Robert Wood Johnson Foundation, NSA, WHO, and several pharmaceutical companies.
Key Words: clinical policy, disease management, stroke, decision analysis, clinical guidelines


Lori Ann Orlando

Professor of Medicine

Dr. Lori A. Orlando, MD MHS MMCI is a Professor of Medicine and Director of the Precision Medicine Program in the Center for Applied Genomics and Precision Medicine at Duke University. She attended Tulane Medical Center for both medical school (1994-1998) and Internal Medicine residency (1998-2000). There she finished AOA and received a number of awards for teaching and clinical care from the medical school and the residency programs, including the Musser-Burch-Puschett award in 2000 for academic excellence. After completing her residency, she served as Chief Medical Resident in Internal Medicine (2001) and then completed a Health Services Research Fellowship at Duke University Medical Center (2002-2004). In 2004 she also received her MHS from the Clinical Research Training Program at Duke University and joined the academic faculty at Duke. In 2005 she received the Milton W. Hamolsky Award for Outstanding Junior Faculty by the Society of General Internal Medicine. Her major research interests are decision making and patient preferences, implementation research, risk stratification for targeting preventive health services, and decision modeling. From 2004-2009 she worked with Dr. David Matchar in the Center for Clinical Heath Policy Research (CCHPR), where she specialized in decision modeling, decision making, and technology assessments. In 2009 she began working with Dr. Geoffrey Ginsburg in what is now the Center for Applied Genomics and Precision Medicine (CAGPM) and in 2014 she became the director of the Center’s Precision Medicine Program. Since joining the CAGPM she has been leading the development and implementation of MeTree, a patient-facing family health history based risk assessment and clinical decision support program designed to facilitate the uptake of risk stratified evidence-based guidelines. MeTree was designed to overcome the major barriers to collecting and using high quality family health histories to guide clinical care and has been shown to be highly effective when integrated into primary care practices. This effort started with the Genomic Medicine Model, a multi-institutional project, whose goal was to implement personalized medicine in primary care practices. The success of that project has led to funding as part of NHGRI’s IGNITE (Implementing Genomics in Clinical Practice) network. She is currently testing methods for integrating patient preferences and decision making processes into clinical decision support recommendations for patients and providers to facilitate management of patients’ risk for chronic disease using mHealth and other behavioral interventions.

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