Incorporating medical interventions into carrier probability estimation for genetic counseling.

ABSTRACT:

Background

Mendelian models for predicting who may carry an inherited deleterious mutation of known disease genes based on family history are used in a variety of clinical and research activities. People presenting for genetic counseling are increasingly reporting risk-reducing medical interventions in their family histories because, recently, a slew of prophylactic interventions have become available for certain diseases. For example, oophorectomy reduces risk of breast and ovarian cancers, and is now increasingly being offered to women with family histories of breast and ovarian cancer. Mendelian models should account for medical interventions because interventions modify mutation penetrances and thus affect the carrier probability estimate.

Methods

We extend Mendelian mod

SUBMITTER: Katki HA 

PROVIDER: S-EPMC1847675 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature