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Secondary findings in trio family members of probands undergoing diagnostic exome sequencing

Clinical Genomics

Date:

Wednesday, Sep 28, 2016 11:00am – 12:00pm

Conference:

Authors:

Christina L. Alamillo, Kelly Hagman, MS, CGC, LGC, Layla Shahmirzadi, Sha Tang, Taylor Cain, Zöe Powis

Many parents did not choose SF testing for themselves but opted for their child.
Identification of positive SF alterations, especially when findings are not present or declined in family members, contributes to the complexity of results disclosure.
Comprehensive genetic counseling is essential, as clinical utility and penetrance varies within alteration, gene, and personal and family histories