Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

TitleClinical genomics and contextualizing genome variation in the diagnostic laboratory.
Publication TypeJournal Article
Year of Publication2020
AuthorsLupski, JR, Liu, P, Stankiewicz, P, Carvalho, CMB, Posey, JE
JournalExpert Rev Mol Diagn
Date Published2020 Oct
KeywordsClinical Laboratory Techniques, Computational Biology, DNA Copy Number Variations, Gene Dosage, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Genome, Human, Genomics, Humans, Molecular Sequence Annotation, Mutation, Phenotype, Rare Diseases

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.

Alternate JournalExpert Rev Mol Diagn
PubMed ID32954863
PubMed Central IDPMC8208305
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States
R35 NS105078 / NS / NINDS NIH HHS / United States
K08 HG008986 / HG / NHGRI NIH HHS / United States
R03 HD092569 / HD / NICHD NIH HHS / United States
R01 HD087292 / HD / NICHD NIH HHS / United States
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