Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

Shelin Adam; Jan M Friedman

doi:10.1016/j.jclinepi.2017.08.020

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

J Clin Epidemiol. 2017 Dec:92:7-10. doi: 10.1016/j.jclinepi.2017.08.020. Epub 2017 Sep 12.

Authors

Shelin Adam¹, Jan M Friedman²

Affiliations

¹ Department of Medical Genetics, Children and Women's Hospital, University of British Columbia, 4500 Oak Street, Vancouver, British Columbia V6H 3V4, Canada. Electronic address: [email protected].
² Department of Medical Genetics, Children and Women's Hospital, University of British Columbia, 4500 Oak Street, Vancouver, British Columbia V6H 3V4, Canada.

PMID: 28916491
DOI: 10.1016/j.jclinepi.2017.08.020

Abstract

Genome-wide (exome or whole genome) sequencing with appropriate genetic counseling should be considered for any patient with a suspected Mendelian disease that has not been identified by conventional testing. Clinical genome-wide sequencing provides a powerful and effective means of identifying specific genetic causes of serious disease and improving clinical care.

Keywords: Exome sequencing; Genetic counseling; Genetic testing; Incidental findings; Mendelian disease; Whole genome sequencing.

Publication types

Review

MeSH terms

Exome / genetics*
Exome Sequencing
Female
Genetic Counseling
Genetic Diseases, Inborn / diagnosis*
Genetic Predisposition to Disease*
Genetic Testing / methods*
Genome-Wide Association Study / methods*
Genomics
Humans
Incidental Findings
Male
Mendelian Randomization Analysis
Sensitivity and Specificity