title: Genomic sequencing in clinical practice: applications, challenges, and opportunities.
abstract: The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screening for prenatal aneuploidy. Emerging applications, such as GS for preconception carrier screening and predisposition screening in healthy individuals, are being explored in research settings and utilized by members of the public eager to incorporate genomic information into their health management. The rapid pace of adoption has created challenges for all stakeholders in clinical GS, from standardizing variant interpretation approaches in clinical molecular laboratories to ensuring that nongeneticist clinicians are prepared for new types of clinical information. Clinical GS faces a pivotal moment, as the vast potential of new quantities and types of data enable further clinical innovation and complicated implementation questions continue to be resolved.
authors.affiliation: Genomes2People Research Program, Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Joel B
authors.initials: JB
authors.lastname: Krier
authors.forename: Sarah S
authors.initials: SS
authors.lastname: Kalia
authors.affiliation: Genomes2People Research Program, Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
authors.forename: Robert C
authors.initials: RC
authors.lastname: Green
mesh_terms: D005820:Genetic Testing; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans
keywords: clinical genomics; exome sequencing; genome sequencing; genomic sequencing; medical genomics