Faculty Collaboration Database

Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis. Pediatr Clin North Am 2017 Feb;64(1):265-272

Date

11/30/2016

Pubmed ID

27894449

DOI

10.1016/j.pcl.2016.08.017

Scopus ID

2-s2.0-84998891570 (requires institutional sign-in at Scopus site)   33 Citations

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.

Author List

Basel D, McCarrier J

Author

Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Child
Decision Making
Genetic Counseling
Genetic Predisposition to Disease
Genetic Testing
Humans
Rare Diseases