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