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Mol Genet Genomic Med. 2015 Sep;3(5):433-9. doi: 10.1002/mgg3.154. Epub 2015 May 6.

Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults.

Author information

1
Faculty of Medicine, Tel Aviv University Tel Aviv, 69978, Israel.
2
The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center Tel-Hashomer, Israel.
3
The Integrated Cancer Prevention Center, Tel Aviv Medical Center, Tel Aviv University Tel Aviv, Israel.

Abstract

Whole-exome sequencing (WES) arises as a new approach in diagnosing individuals affected by multigenic and complex phenotypes. Herein, we aim to examine whether WES is useful in screening asymptomatic individuals for actionable interventions, which has not yet been established. Twenty-five healthy adults underwent WES, bioinformatics, and manual curation of their exomes. Six participants (24%) harbored significant, management-changing variants in cancer predisposition genes, American College of Medical Genetics, and genomics reportable cardiac diseases and pharmacogenomic biomarkers that have led to clinical recommendations and interventions. Furthermore, more than 80% of the participants (21) carried 1-3 genetic variants with an associated clinical guideline for an altered drug dosing or administration based on the FDA's table of pharmacogenomics. These results support WES potential not only to answer specific diagnostic questions presented by the relevant personal and/or family history but also to uncover clinically important genetic findings unrelated to the primary indication for sequencing.

KEYWORDS:

Exome sequencing; clinical decision; genome; genomic

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