Conflict of interest: None declared.
Phenotyping: Targeting genotype's rich cousin for diagnosis
Version of Record online: 11 AUG 2014
© 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
Journal of Paediatrics and Child Health
Volume 51, Issue 4, pages 381–386, April 2015
How to Cite
Baynam, G., Walters, M., Claes, P., Kung, S., LeSouef, P., Dawkins, H., Bellgard, M., Girdea, M., Brudno, M., Robinson, P., Zankl, A., Groza, T., Gillett, D. and Goldblatt, J. (2015), Phenotyping: Targeting genotype's rich cousin for diagnosis. Journal of Paediatrics and Child Health, 51: 381–386. doi: 10.1111/jpc.12705
- Issue online: 1 APR 2015
- Version of Record online: 11 AUG 2014
- Manuscript Accepted: 11 JUL 2014
- deep phenotyping;
- general paediatrics;
- international child health;
- precision medicine
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.