Open AccessIdentification and Management of Women at High Risk for Hereditary Breast/Ovarian Cancer Syndrome
Author(s) -
Ozanne Elissa M.,
Loberg Andrea,
Hughes Sherwood,
Lawrence Christine,
Drohan Brian,
Semine Alan,
Jellinek Michael,
Cronin Claire,
Milham Frederick,
Dowd Dana,
Block Caroline,
Lockhart Deborah,
Sharko John,
Grinstein Georges,
Hughes Kevin S.
Publication year - 2009
Publication title -
the breast journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.533
H-Index - 72
eISSN - 1524-4741
pISSN - 1075-122X
DOI - 10.1111/j.1524-4741.2009.00690.x
Subject(s) - medicine , genetic testing , family history , risk assessment , lynch syndrome , breast cancer , population , ovarian cancer , genetic counseling , family medicine , gynecology , cancer , environmental health , genetics , colorectal cancer , computer security , dna mismatch repair , biology , computer science
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.