title: Is this the real time for genomics?
abstract: In the last decades, molecular biology has moved from gene-by-gene analysis to more complex studies using a genome-wide scale. Thanks to high-throughput genomic technologies, such as microarrays and next-generation sequencing, a huge amount of information has been generated, expanding our knowledge on the genetic basis of various diseases. Although some of this information could be transferred to clinical diagnostics, the technologies available are not suitable for this purpose. In this review, we will discuss the drawbacks associated with the use of traditional DNA microarrays in diagnostics, pointing out emerging platforms that could overcome these obstacles and offer a more reproducible, qualitative and quantitative multigenic analysis. New miniaturized and automated devices, called Lab-on-Chip, begin to integrate PCR and microarray on the same platform, offering integrated sample-to-result systems. The introduction of this kind of innovative devices may facilitate the transition of genome-based tests into clinical routine.
authors.affiliation: Functional Genomics Center, Institute of Neurological Sciences, Italian National Research Council, Via Paolo Gaifami 18, 95125 Catania, Italy. Electronic address: maria.guarnaccia@functional-genomics.it.
authors.forename: Maria
authors.initials: M
authors.lastname: Guarnaccia
authors.affiliation: Functional Genomics Center, Institute of Neurological Sciences, Italian National Research Council, Via Paolo Gaifami 18, 95125 Catania, Italy. Electronic address: giulia.gentile@functional-genomics.it.
authors.forename: Giulia
authors.initials: G
authors.lastname: Gentile
authors.affiliation: Analog, MEMS & Sensor Group - HealthCare Business Development Unit, STMicroelectronics, Stradale Primosole 50, 95121 Catania, Italy. Electronic address: enrico.alessi@st.com.
authors.forename: Enrico
authors.initials: E
authors.lastname: Alessi
authors.affiliation: National Laboratory of the Interuniversity Consortium for Biotechnology, Area Science Park, Padriciano 99, 34149 Trieste, Italy. Electronic address: schneide@lncib.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: Schneider
authors.affiliation: Analog, MEMS & Sensor Group - HealthCare Business Development Unit, STMicroelectronics, Stradale Primosole 50, 95121 Catania, Italy. Electronic address: salvatore.petralia@st.com.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Petralia
authors.affiliation: Functional Genomics Center, Institute of Neurological Sciences, Italian National Research Council, Via Paolo Gaifami 18, 95125 Catania, Italy. Electronic address: sebastiano.cavallaro@cnr.it.
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Cavallaro
mesh_terms: D000818:Animals; D023281:Genomics / Q000295:instrumentation* / Q000379:methods* / Q000639:trends; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation / Q000379:methods / Q000639:trends; D006801:Humans; D056656:Lab-On-A-Chip Devices; D020411:Oligonucleotide Array Sequence Analysis / Q000295:instrumentation / Q000379:methods / Q000639:trends; D016133:Polymerase Chain Reaction / Q000295:instrumentation / Q000379:methods / Q000639:trends
keywords: Diagnostics; Genome-based tests; Lab-on-Chip; Next-generation sequencing; Point-of-Care; Real-time microarray