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

Abstract excerpt

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...

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