title: Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.
abstract: High throughput molecular and functional profiling of patients is a key driver of precision medicine. DNA and RNA characterization has been enabled at unprecedented cost and scale through rapid, disruptive progress in sequencing technology, but challenges persist in data management and interpretation. We analyze the state-of-the-art of large-scale unbiased sequencing in drug discovery and development, including technology, application, ethical, regulatory, policy and commercial considerations, and discuss issues of LUS implementation in clinical and regulatory practice.
authors.affiliation: Pfizer Worldwide Research & Development, La Jolla, California, Collegeville, Pennsylvania, and New York, New York, USA.
authors.forename: P
authors.initials: P
authors.lastname: Vicini
authors.affiliation: Pfizer Worldwide Research & Development, La Jolla, California, Collegeville, Pennsylvania, and New York, New York, USA.
authors.forename: O
authors.initials: O
authors.lastname: Fields
authors.affiliation: Takeda Pharmaceuticals International, Deerfield, Illinois, USA.
authors.forename: E
authors.initials: E
authors.lastname: Lai
authors.affiliation: Food and Drug Administration, Silver Spring, Maryland, USA.
authors.forename: E D
authors.initials: ED
authors.lastname: Litwack
authors.affiliation: GlaxoSmithKline, Collegeville, Pennsylvania, USA.
authors.forename: A-M
authors.initials: AM
authors.lastname: Martin
authors.affiliation: Novartis Institutes for Biomedical Research, Cambridge, Massachusetts, and East Hanover, New Jersey, USA.
authors.forename: T M
authors.initials: TM
authors.lastname: Morgan
authors.affiliation: Food and Drug Administration, Silver Spring, Maryland, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Pacanowski
authors.affiliation: European Medicines Agency, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Papaluca
authors.affiliation: Pfizer Worldwide Research & Development, La Jolla, California, Collegeville, Pennsylvania, and New York, New York, USA.
authors.forename: O D
authors.initials: OD
authors.lastname: Perez
authors.affiliation: Boston Consulting Group, Boston, Massachusetts, USA.
authors.forename: M S
authors.initials: MS
authors.lastname: Ringel
authors.affiliation: Novartis Institutes for Biomedical Research, Cambridge, Massachusetts, and East Hanover, New Jersey, USA.
authors.forename: M
authors.initials: M
authors.lastname: Robson
authors.affiliation: Pfizer Worldwide Research & Development, La Jolla, California, Collegeville, Pennsylvania, and New York, New York, USA.
authors.forename: H
authors.initials: H
authors.lastname: Sakul
authors.affiliation: Inova Translational Medicine Institute, Falls Church, Virginia, USA.
authors.forename: J
authors.initials: J
authors.lastname: Vockley
authors.affiliation: Sanofi, Cambridge, Massachusetts, USA.
authors.forename: T
authors.initials: T
authors.lastname: Zaks
authors.affiliation: Pfizer Worldwide Research & Development, La Jolla, California, Collegeville, Pennsylvania, and New York, New York, USA.
authors.forename: M
authors.initials: M
authors.lastname: Dolsten
authors.affiliation: Pfizer Worldwide Research & Development, La Jolla, California, Collegeville, Pennsylvania, and New York, New York, USA.
authors.forename: M
authors.initials: M
authors.lastname: Søgaard
mesh_terms: D016208:Databases, Factual / Q000331:legislation & jurisprudence / Q000592:standards / Q000639:trends*; D003695:Delivery of Health Care / Q000639:trends; D055808:Drug Discovery / Q000331:legislation & jurisprudence / Q000592:standards / Q000639:trends*; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D010597:Pharmacogenetics / Q000331:legislation & jurisprudence / Q000592:standards / Q000639:trends*; D057285:Precision Medicine; D014481:United States; D014486:United States Food and Drug Administration