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Family Health History Workshop
Challenges in Utilizing Family Health History for Better Care
November 17, 2011
Organized by IBM Haifa Research Lab


Family Health History Applications in Intermountain Healthcare
Grant Wood, Intermountain Healthcare

With new computerized tools, the collection and use of family health history data in clinical care can be elevated to a higher level. Grant will demonstrate an Internet-based family history application for patients, and propose how the patient-entered data can be used by electronic health records to aid clinical providers in risk assessment and decision making.

Prenatal and Pre-implantation Genetic Diagnosis for BRCA1/2 Mutations in Families with Hereditary Breast-ovarian Cancer Syndrome
Efrat Dagan, Department of Nursing, University of Haifa and Institute of Human Genetics, Rambam HealthCare Campus

Breast cancer is the leading cause of cancer, in women, in the Western world and the second cause of death. Three mutations in BRCA1/2 predominate in high risk breast-ovarian cancer Ashkenazi Jewish families with carrier frequencies of 2-3% in this population; and 20% and 40% in breast-ovarian cancer patients, respectively. Harboring a mutation in BRCA1⁄2 genes increases the lifetime risk substantially for breast cancer to 60–80% and for ovarian cancer to 16–40%; and for early onset disease, bilaterality and aggressive 'triple' negative tumors, all subsequently resulting poor prognosis. Therefore, BRCA1/2 carriers are recommended to maintain intensive follow-up and prophylactic risk reduction surgeries. The situation of being at high risk for life threatening inherited disease, impact daily decision making processes and functioning, overall well being and quality of life. Two options are available to prevent a BRCA1/2 mutation carriage status, prenatal diagnosis (PND) and pre implantation genetic diagnosis (PGD). Reviewing the regulation, the selection of indications and the criteria for reimbursement regarding PGD/PND procedure, have revealed differences between countries, that reflecting the cultural and ethical values of diverse societies.

As genetic diagnosis becomes more and more at hand these days, ethical questions, such as, whether to do a PND and/or PGD for BRCA1/2 mutation carriers are at front door. Comprehensively, the ethical aspects of genetic counseling and diagnosis in late onset diseases, either cancer and/or others are in the everyday clinical setting.

These issues invite a broad discussion among professionals from diverse interest.