Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges

Thompson, Rose, Drew, Cheney ORCID: https://orcid.org/0000-0002-4397-6252 and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2012. Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges. Advances in Protein Chemistry and Structural Biology 89 , pp. 27-63. 10.1016/B978-0-12-394287-6.00002-1

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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?

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Additional Information:	Available online 6 October 2012
Publisher:	Elsevier
ISSN:	1876-1623
Last Modified:	28 Oct 2022 10:28
URI:	https://orca.cardiff.ac.uk/id/eprint/78484

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