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J Am Med Inform Assoc ; 27(9): 1443-1449, 2020 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-32940694

RESUMO

OBJECTIVE: The genetic testing for hereditary breast cancer that is most helpful in high-risk women is underused. Our objective was to quantify the risk factors for heritable breast and ovarian cancer contained in the electronic health record (EHR), to determine how many women meet national guidelines for referral to a cancer genetics professional but have no record of a referral. METHODS AND MATERIALS: We reviewed EHR records of a random sample of women to determine the presence and location of risk-factor information meeting National Comprehensive Cancer Network (NCCN) guidelines for a further genetic risk evaluation for breast and/or ovarian cancer, and determine whether the women were referred for such an evaluation. RESULTS: A thorough review of the EHR records of 299 women revealed that 24 (8%) met the NCCN criteria for referral for a further genetic risk evaluation; of these, 12 (50%) had no referral to a medical genetics clinic. CONCLUSIONS: Half of the women whose EHR records contain risk-factor information meeting the criteria for further genetic risk evaluation for heritable forms of breast and ovarian cancer were not referred.


Assuntos
Neoplasias da Mama/genética , Registros Eletrônicos de Saúde , Testes Genéticos , Neoplasias Ovarianas/genética , Neoplasias da Mama/prevenção & controle , Feminino , Doenças Genéticas Inatas/diagnóstico , Humanos , Neoplasias Ovarianas/prevenção & controle , Encaminhamento e Consulta , Fatores de Risco
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