A primer on precision medicine informatics.

TitleA primer on precision medicine informatics.
Publication TypeJournal Article
Year of Publication2016
AuthorsSboner A, Elemento O
JournalBrief Bioinform
Date Published2016 Jan
KeywordsComputational Biology, DNA Mutational Analysis, Genetic Variation, Genomics, High-Throughput Nucleotide Sequencing, Humans, Precision Medicine, Sequence Alignment, Sequence Analysis, DNA, Software

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.

Alternate JournalBrief. Bioinformatics
PubMed ID26048401