title: The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
abstract: 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.
authors.affiliation: Centre of Genomics and Policy, McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
authors.forename: M T
authors.initials: MT
authors.lastname: Nguyen
authors.affiliation: Centre of Genomics and Policy, McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Charlebois
mesh_terms: D003362:Cost-Benefit Analysis; D003657:Decision Making; D059472:Exome; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics / Q000379:methods / Q000639:trends*; D006801:Humans; D035583:Rare Diseases / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000639:trends
keywords: clinical utility; consent; diagnosis; genetic testing; rare diseases; thematic analysis; whole-exome sequencing