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.
Highlights
Next-generation sequencing (NGS) has revolutionized both medical research and diagnostics (Koboldt et al.2013)
wholeexome sequencing (WES) is increasingly used in clinical medicine and has the potential to answer specific diagnostic questions presented by the relevant personal and/or family history and to uncover clinically important genetic findings unrelated to the primary indication for sequencing
More than 80% of the participants carried 1–3 genetic variants with an associated clinical guideline for an altered drug dosing or administration based on the Food and Drug Administration (FDA)’s table of pharmacogenomics
Summary
Next-generation sequencing (NGS) has revolutionized both medical research and diagnostics (Koboldt et al.2013). This innovative technology enabled generation of a multitude of DNA sequences and genomic data that is measured in Exabytes with a short turnaround time and low error rates. Applying this technology in the research a 2015 The Authors. NGS reduce time and resource-consuming diagnostic procedures by sequencing in parallel, rather than sequentially, all known genes that are relevant to the studied phenotype. Algorithms for identifying responders and nonresponders to medications, avoiding adverse events, and optimizing drug dosage and/or intervals based on genomic data are being explored (Bielinski et al 2014) and over 100 drugs are currently listed on the U.S Food and Drug Administration (FDA) pharmacogenomics biomarker list (Research n.d.)
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