The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more comprehensive BRCA testing at lower prices. Most of these laboratories also offered BRCA1 and 2 on a panel with many genes involved in cancer development. Most of these genes are lesser studied and understood than BRCA1 and 2 and often include variants of uncertain significance. Deciphering if a mutation is clinically relevant, how that patient should be followed, if the genetic finding is actually responsible for the cancers in the family and segregates with disease, and determining whether carrier status is important to the surveillance, chemoprovention and prophylactic surgery recommendations made to the patient has greatly increased the complexity of the field. All of this information will be discussed as well as what we can expect from the field as whole-exome sequencing becomes a clinical reality.
Research And Development