title: Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome.
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.
authors.affiliation: Institute for Technology Assessment, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
authors.forename: Elissa M
authors.initials: EM
authors.lastname: Ozanne
authors.forename: Andrea
authors.initials: A
authors.lastname: Loberg
authors.forename: Sherwood
authors.initials: S
authors.lastname: Hughes
authors.forename: Christine
authors.initials: C
authors.lastname: Lawrence
authors.forename: Brian
authors.initials: B
authors.lastname: Drohan
authors.forename: Alan
authors.initials: A
authors.lastname: Semine
authors.forename: Michael
authors.initials: M
authors.lastname: Jellinek
authors.forename: Claire
authors.initials: C
authors.lastname: Cronin
authors.forename: Frederick
authors.initials: F
authors.lastname: Milham
authors.forename: Dana
authors.initials: D
authors.lastname: Dowd
authors.forename: Caroline
authors.initials: C
authors.lastname: Block
authors.forename: Deborah
authors.initials: D
authors.lastname: Lockhart
authors.forename: John
authors.initials: J
authors.lastname: Sharko
authors.forename: Georges
authors.initials: G
authors.lastname: Grinstein
authors.forename: Kevin S
authors.initials: KS
authors.lastname: Hughes
mesh_terms: D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008403:Mass Screening; D008487:Medical History Taking; D010051:Ovarian Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D010353:Patient Education as Topic; D010802:Phylogeny; D010817:Physician-Patient Relations; D017410:Practice Guidelines as Topic; D018570:Risk Assessment