Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults

Nir Pillar, Ofer Isakov, Daphna Weissglas-Volkov, Shay Botchan, Eitan Friedman, Nadir Arber, Noam Shomron

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)433-439
Number of pages7
JournalMolecular genetics & genomic medicine
Issue number5
StatePublished - Sep 2015


  • Clinical decision
  • Exome sequencing
  • Genome
  • Genomic

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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