title: A primer on precision medicine informatics.
abstract: In this review, we describe key components of a computational infrastructure for a precision medicine program that is based on clinical-grade genomic sequencing. Specific aspects covered in this review include software components and hardware infrastructure, reporting, integration into Electronic Health Records for routine clinical use and regulatory aspects. We emphasize informatics components related to reproducibility and reliability in genomic testing, regulatory compliance, traceability and documentation of processes, integration into clinical workflows, privacy requirements, prioritization and interpretation of results to report based on clinical needs, rapidly evolving knowledge base of genomic alterations and clinical treatments and return of results in a timely and predictable fashion. We also seek to differentiate between the use of precision medicine in germline and cancer.
authors.forename: Andrea
authors.initials: A
authors.lastname: Sboner
authors.forename: Olivier
authors.initials: O
authors.lastname: Elemento
mesh_terms: D019295:Computational Biology / Q000379:methods* / Q000639:trends; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data; D014644:Genetic Variation; D023281:Genomics / Q000706:statistics & numerical data; D059014:High-Throughput Nucleotide Sequencing / Q000706:statistics & numerical data; D006801:Humans; D057285:Precision Medicine / Q000706:statistics & numerical data* / Q000639:trends; D016415:Sequence Alignment / Q000706:statistics & numerical data; D017422:Sequence Analysis, DNA / Q000706:statistics & numerical data; D012984:Software
keywords: NGS testing; clinical genomics; computational biology; informatics; precision medicine