title: Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges.
abstract: There has been an academic "gold rush" with researchers mining the deep seams of whole-exome and whole-genome sequencing since 2008. Although undoubtedly a major advance initially for identifying new disease-associated genes for rare monogenetic disorders--more recently, common and complex conditions have been successfully studied using these techniques. With great power comes great responsibility, however, and we must not forget that next generation sequencing produces unique ethical conundrums and validation challenges. We review the progression of published papers using whole-exome sequencing from a clinical and technical viewpoint before then reflecting on the key arguments that need to be fully understood before these tools can become a routine part of clinical practice and we ask what may be the role for the biomedical scientists?
authors.affiliation: Welsh Centre for Learning Disabilities, Cardiff University, Cardiff, UK.
authors.forename: Rose
authors.initials: R
authors.lastname: Thompson
authors.forename: Cheney J G
authors.initials: CJ
authors.lastname: Drew
authors.forename: Rhys H
authors.initials: RH
authors.lastname: Thomas
mesh_terms: D000818:Animals; D004827:Epilepsy / Q000235:genetics; D059472:Exome / Q000235:genetics; D005817:Genetic Counseling; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods / Q000639:trends; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000639:trends*