title: Phenotyping: targeting genotype's rich cousin for diagnosis.
abstract: There are many current and evolving tools to assist clinicians in their daily work of phenotyping. In medicine, the term 'phenotype' is usually taken to mean some deviation from normal morphology, physiology and behaviour. It is ascertained via history, examination and investigations, and a primary aim is diagnosis. Therefore, doctors are, by necessity, expert 'phenotypers'. There is an inherent and partially realised power in phenotypic information that when harnessed can improve patient care. Furthermore, phenotyping developments are increasingly important in an era of rapid advances in genomic technology. Fortunately, there is an expanding network of phenotyping tools that are poised for clinical translation. These tools will preferentially be implemented to mirror clinical workflows and to integrate with advances in genomic and information-sharing technologies. This will synergise with and augment the clinical acumen of medical practitioners. We outline key enablers of the ascertainment, integration and interrogation of clinical phenotype by using genetic diseases, particularly rare ones, as a theme. Successes from the test bed or rare diseases will support approaches to common disease.
authors.affiliation: Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.forename: Mark
authors.initials: M
authors.lastname: Walters
authors.forename: Peter
authors.initials: P
authors.lastname: Claes
authors.forename: Stefanie
authors.initials: S
authors.lastname: Kung
authors.forename: Peter
authors.initials: P
authors.lastname: LeSouef
authors.forename: Hugh
authors.initials: H
authors.lastname: Dawkins
authors.forename: Matthew
authors.initials: M
authors.lastname: Bellgard
authors.forename: Marta
authors.initials: M
authors.lastname: Girdea
authors.forename: Michael
authors.initials: M
authors.lastname: Brudno
authors.forename: Peter
authors.initials: P
authors.lastname: Robinson
authors.forename: Andreas
authors.initials: A
authors.lastname: Zankl
authors.forename: Tudor
authors.initials: T
authors.lastname: Groza
authors.forename: David
authors.initials: D
authors.lastname: Gillett
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005838:Genotype; D006801:Humans; D008487:Medical History Taking; D010641:Phenotype; D010808:Physical Examination; D057285:Precision Medicine
keywords: deep phenotyping; general paediatrics; genetics; international child health; phenotype; precision medicine