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The clinical utility of whole‐exome sequencing in the context of rare diseases – the changing tides of medical practice
Author(s) -
Nguyen M.T.,
Charlebois K.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12546
Subject(s) - exome sequencing , context (archaeology) , rare disease , relevance (law) , identification (biology) , medicine , exome , disease , clinical practice , family medicine , pathology , biology , genetics , mutation , paleontology , botany , gene , political science , law
Whole‐exome sequencing ( WES ) carries the potential to facilitate the identification of disease causing genes. This is particularly relevant concerning rare diseases, which proves particularly difficult for physicians to diagnose. However, the complexity of this technology renders its applicability onto the clinical setting uncertain. Our study thus aims to understand physicians' perspectives regarding the clinical utility of WES , particularly for providing a diagnosis for patients with rare diseases. Ten semi‐structured interviews were conducted with physicians with experience and familiarity with WES , and the major themes that emerged from our interviews were (i) the relevance of WES in diagnosing patients with rare diseases (appropriateness); (ii) the cost‐effectiveness of WES (accessibility), (iii) the practical issues related to the clinical implementation of WES (practicability); and (iv) ethical, legal and social issues (acceptability). Our study highlights how the clinical implementation of WES presents additional challenges where rare diseases are taken into consideration.