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

Pillar N, Isakov O, Weissglas-Volkov D, Botchan S, Friedman E, Arber N, Shomron N - Mol Genet Genomic Med (2015)

Bottom Line: Herein, we aim to examine whether WES is useful in screening asymptomatic individuals for actionable interventions, which has not yet been established.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.

View Article: PubMed Central - PubMed

Affiliation: Faculty of Medicine, Tel Aviv University Tel Aviv, 69978, 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.

No MeSH data available.


Related in: MedlinePlus

Dispersion of variants per participant in cancer, cardiovascular, and pharmacogenomics categories. Each number on the horizontal axis represents individual underwent WES. The vertical axis represent predicted deleterious variants in cancer, cardiovascular, and pharmacogenomics.
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fig02: Dispersion of variants per participant in cancer, cardiovascular, and pharmacogenomics categories. Each number on the horizontal axis represents individual underwent WES. The vertical axis represent predicted deleterious variants in cancer, cardiovascular, and pharmacogenomics.

Mentions: After genetic variants discovery in all participants was concluded and deleterious variants were flagged and validated, a multidisciplinary team assessed all seemingly deleterious variants. The dispersion of variants predicted to harbor deleterious mutations are displayed in Figure2.


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

Pillar N, Isakov O, Weissglas-Volkov D, Botchan S, Friedman E, Arber N, Shomron N - Mol Genet Genomic Med (2015)

Dispersion of variants per participant in cancer, cardiovascular, and pharmacogenomics categories. Each number on the horizontal axis represents individual underwent WES. The vertical axis represent predicted deleterious variants in cancer, cardiovascular, and pharmacogenomics.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4585451&req=5

fig02: Dispersion of variants per participant in cancer, cardiovascular, and pharmacogenomics categories. Each number on the horizontal axis represents individual underwent WES. The vertical axis represent predicted deleterious variants in cancer, cardiovascular, and pharmacogenomics.
Mentions: After genetic variants discovery in all participants was concluded and deleterious variants were flagged and validated, a multidisciplinary team assessed all seemingly deleterious variants. The dispersion of variants predicted to harbor deleterious mutations are displayed in Figure2.

Bottom Line: Herein, we aim to examine whether WES is useful in screening asymptomatic individuals for actionable interventions, which has not yet been established.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.

View Article: PubMed Central - PubMed

Affiliation: Faculty of Medicine, Tel Aviv University Tel Aviv, 69978, 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.

No MeSH data available.


Related in: MedlinePlus