Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis

Abstract

Genomic sequencing is the diagnostic test of choice for families with undiagnosed or rare diseases seeking an explanation for their child's complex medical concerns. The desire to find answers can easily bias interpretation of sequencing results, and thus the counseling process is designed to facilitate informed decision making and set realistic expectations for possible outcomes. The patient case examples serve to highlight the various challenges and complexities encountered with the clinical application of genomic sequencing and to reflect some of the data that has been accrued during the past 5 years of clinical experience.

Keywords: Categorical model for WES results disclosure; Diagnostic odyssey; Genetic counseling; Patient experiences-Case series; Variant calling; Whole exome sequencing.