Learning Healthcare System for the Prescription of Genetic Testing in the Gynecological Cancer Risk

Stud Health Technol Inform. 2017:235:96-100.

Abstract

Clinical evidence demonstrates that BRCA 1 and BRCA2 mutations can develop a gynecological cancer but genetic testing has a high cost to the healthcare system. Besides, several studies in the literature indicate that performing these genetic tests to the population is not cost-efficient. Currently, our physicians do not have a system to provide them the support for prescribing genetic tests. A Decision Support System for prescribing these genetic tests in BRCA1 and BRCA2 and preventing gynecological cancer risks has been designed, developed and deployed in the Virgen del Rocío University Hospital (VRUH). The technological architecture integrates a set of open source tools like Mirth Connect, OpenClinica, OpenCDS, and tranSMART in addition to several interoperability standards. The system allows general practitioners and gynecologists to classify patients as low risk (they do not require a specific treatment) or high risk (they should be attended by the Genetic Council). On the other hand, by means of this system we are also able to standardize criteria among professionals to prescribe these genetic tests. Finally, this system will also contribute to improve the assistance for this kind of patients.

Keywords: Learning Healthcare System; breast cancer; genetic testing; gynecological cancer; ovarian cancer.

MeSH terms

  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics
  • Decision Support Systems, Clinical*
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Genital Neoplasms, Female / diagnosis*
  • Genital Neoplasms, Female / genetics
  • Humans
  • Mutation
  • Risk Factors