Identification and Management of Women at High Risk for Hereditary Breast/Ovarian Cancer Syndrome

Institute for Technology Assessment, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
The Breast Journal (Impact Factor: 1.41). 03/2009; 15(2):155-62. DOI: 10.1111/j.1524-4741.2009.00690.x
Source: PubMed


Despite advances in identifying genetic markers of high risk patients and the availability of genetic testing, it remains challenging to efficiently identify women who are at hereditary risk and to manage their care appropriately. HughesRiskApps, an open-source family history collection, risk assessment, and Clinical Decision Support (CDS) software package, was developed to address the shortcomings in our ability to identify and treat the high risk population. This system is designed for use in primary care clinics, breast centers, and cancer risk clinics to collect family history and risk information and provide the necessary CDS to increase quality of care and efficiency. This paper reports on the first implementation of HughesRiskApps in the community hospital setting. HughesRiskApps was implemented at the Newton-Wellesley Hospital. Between April 1, 2007 and March 31, 2008, 32,966 analyses were performed on 25,763 individuals. Within this population, 915 (3.6%) individuals were found to be eligible for risk assessment and possible genetic testing based on the 10% risk of mutation threshold. During the first year of implementation, physicians and patients have fully accepted the system, and 3.6% of patients assessed have been referred to risk assessment and consideration of genetic testing. These early results indicate that the number of patients identified for risk assessment has increased dramatically and that the care of these patients is more efficient and likely more effective.

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Available from: Kevin S Hughes, Jun 01, 2014
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    • "While other electronic FHH and CDS tools exist, to our knowledge this is the first trial exploring direct integration of a FHH tool into real world primary care practices and the first to show that known barriers in the clinic can be successfully overcome [33-39]. The finding that patients talked with their family members, acquired new knowledge about their FHH, and changed their perception of risk, awareness, and attitude towards health supports the idea that by educating patients on the importance of collecting their FHH and its impact, the model has the potential to empower patients to take more responsibility for their care and can improve the dynamic of the patient-provider relationship. "
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    ABSTRACT: Family health history (FHH) is the single strongest predictor of disease risk and yet is significantly underutilized in primary care. We developed a patient facing FHH collection tool, MeTree(c), that uses risk stratification to generate clinical decision support for breast cancer, colorectal cancer, ovarian cancer, hereditary cancer syndromes, and thrombosis. Here we present data on the experience of patients and providers after integration of MeTree(c) into 2 primary care practices. This was a Type 2 hybrid controlled implementation-effectiveness study in 3 community-based primary care clinics in Greensboro, NC. All non-adopted adult English speaking patients with upcoming routine appointments were invited. Patients were recruited from December 2009 to the present and followed for one year. Ease of integration of MeTree(c) into clinical practice at the two intervention clinics was evaluated through patient surveys after their appointment and at 3 months post-visit, and physician surveys 3 months after tool integration. Total enrollment =1,184. Average time to complete MeTree(c) = 27 minutes. Patients found MeTree(c): easy to use (93%), easy to understand (97%), useful (98%), raised awareness of disease risk (85%), and changed how they think about their health (86%). Of the 26% (N = 311) asking for assistance to complete the tool, age (65 sd 9.4 vs. 57 sd 11.8, p-value < 0.00) and large pedigree size (24.4 sd 9.81 vs. 22.2 sd 8.30, p-value < 0.00) were the only significant factors; 77% of those requiring assistance were over the age of 60. Providers (N = 14) found MeTree(c): improved their practice (86%), improved their understanding of FHH (64%), made practice easier (79%), and worthy of recommending to their peers (93%). Our study shows that MeTree(c) has broad acceptance and support from both patients and providers and can be implemented without disruption to workflow.
    Full-text · Article · Aug 2013 · BMC Family Practice
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    • "The Standard Survey was used in the current study. This software is also described in more detail elsewhere (Drohan et al. 2009; Ozanne et al. 2009b). With Institutional Review Board (IRB) approval, a retrospective review was performed of cancer family histories collected between October 12, 2005 and March 10, 2009. "
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    ABSTRACT: Family history of cancer is critical for identifying and managing patients at risk for cancer. However, the quality of family history data is dependent on the accuracy of patient self reporting. Therefore, the validity of family history reporting is crucial to the quality of clinical care. A retrospective review of family history data collected at a community hospital between 2005 and 2009 was performed in 43,257 women presenting for screening mammography. Reported numbers of breast, colon, prostate, lung, and ovarian cancer were compared in maternal relatives vs. paternal relatives and in first vs. second degree relatives. Significant reporting differences were found between maternal and paternal family history of cancer, in addition to degree of relative. The number of paternal family histories of cancer was significantly lower than that of maternal family histories of cancer. Similarly, the percentage of grandparents' family histories of cancer was significantly lower than the percentage of parents' family histories of cancer. This trend was found in all cancers except prostate cancer. Self-reported family history in the community setting is often influenced by both bloodline of the cancer history and the degree of relative affected. This is evident by the underreporting of paternal family histories of cancer, and also, though to a lesser extent, by degree. These discrepancies in reporting family history of cancer imply we need to take more care in collecting accurate family histories and also in the clinical management of individuals in relation to hereditary risk.
    Full-text · Article · Jan 2012 · Journal of Genetic Counseling

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