Clinical Genomics and Contextualizing Genome Variation in the Diagnostic Laboratory

Overview

Journal Expert Rev Mol Diagn

Specialty Molecular Biology

Date 2020 Sep 21

PMID 32954863

Citations 10

Authors

James R Lupski

Pengfei Liu

Pawel Stankiewicz

Claudia M B Carvalho

Jennifer E Posey

Affiliations

Soon will be listed here.

Abstract

Introduction: The human genome contains the instructions for the development and biological homeostasis of the human organism and the genetic transmission of traits. Genome variation in human populations is the basis of evolution; individual or personal genomes vary tremendously, making each of us truly unique.

Areas Covered: Assaying this individual variation using genomic technologies has many applications in clinical medicine, from elucidating the biology of disease to designing strategies to ameliorate perturbations from homeostasis. Detecting pathogenic rare variation in a genome may provide a molecular diagnosis that can be informative for patient management and family healthcare.

Expert Opinion: Despite the increasing clinical use of unbiased genomic testing, including chromosome microarray analysis (CMA) with array comparative genomic hybridization (aCGH) or SNP arrays, clinical exome sequencing (cES), and whole-genome sequencing (WGS), to survey genome-wide for molecular aberrations, clinical acumen paired with an understanding of the limitations of each testing type will be needed to achieve molecular diagnoses. Potential opportunities for improving case solved rates, functionally annotating the majority of genes in the human genome, and further understanding genetic contributions to disease will empower clinical genomics and the precision medicine initiative.

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