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Identification and Management of Women at High Risk for Hereditary Breast/Ovarian Cancer Syndrome
Authors:Elissa M Ozanne  PhD  rea Loberg  Sherwood Hughes  Christine Lawrence  Brian Drohan  MS    Alan Semine  MD    Michael Jellinek  MD    Claire Cronin  MD    Frederick Milham  MD  MBA    Dana Dowd  RN  NP    Caroline Block  MD    Deborah Lockhart  John Sharko  MS    Georges Grinstein  PhD    Kevin S Hughes  MD
Institution:Institute for Technology Assessment, Massachusetts General Hospital, Harvard Medical School;;Surgical Oncology Division, Massachusetts General Hospital;;Director of Project Development, Applied Informatics, Center for Quality &Safety, Massachusetts General Hospital;;Surgical Oncology Division, Massachusetts General Hospital;;Computer Science Department, University of Massachusetts Lowell;;Chief, Division of Breast Imaging, Radiology, Newton-Wellesley Hospital;;President, Newton Wellesley Hospital;Chief, Child Psychiatry Massachusetts General Hospital and Professor of Psychiatry and of Pediatrics, Harvard Medical School;;Department of Surgery, Newton-Wellesley Hospital;;Chair of Surgery, Newton-Wellesley Hospital;;Ambulatory Care Coordinator, Auerbach Breast Center, Newton-Wellesley Hospital;;Director of Medical Oncology, Auerbach Breast Center, Newton-Wellesley Hospital and Department of Medicine, Tufts University School of Medicine;;Operations Manager, Women's Imaging Department, Newton-Wellesley Hospital;;Computer Science Department, University of Massachusetts Lowell;;Professor, Computer Science Department, Director, Institute for Visualization and Perception Research and Director, Center for Biomolecular and Medical Informatics;University of Massachusetts Lowell;;and Co-Director, Avon Breast Evaluation Center, Massachusetts General Hospital, Newton-Wellesley Hospital and Assistant Professor of Surgery, Harvard Medical School, Boston, Massachusetts
Abstract:Abstract:  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.
Keywords:BRCA mutations  Decision Support Software  hereditary breast cancer  hereditary ovarian cancer
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