Advanced Search
Korean J Pediatr 2010 March;53(3) :273-285.
Genetic testing in clinical pediatric practice
Han Wook Yoo (Yoo HW)
Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center Children`s Hospital, University of Ulsan College of Medicine
Corresponding Author: Han Wook Yoo ,Email:
Copyright © 2010 by The Korean Pediatric Society
Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes pre- and postnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a genes structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.
Keywords: Genetic testing | DNA-based testing | Clinical application
PDF Links  PDF Links
Full text via DOI  Full text via DOI
Download Citation  Download Citation
Supplementary Material  Supplementary Material
Sleep problems in children and adolescents at pediatric clinics  2017 May;60(5)
Genetics of hereditary nephrotic syndrome: a clinical review  2017 March;60(3)
Debriefing in pediatrics  2015 February;58(2)
Magnetoencephalography in pediatric epilepsy  2013 October;56(10)
Therapeutic monitoring of vancomycin according to initial dosing regimen in pediatric patients  2010 December;53(12)
Register for e-submission
Register here to access the e-submission system of Korean J Pediatr for authors and reviewers.
Manuscript Submission
To submit a manuscript, please visit the Korean J Pediatr e-submission management system at, read the Instructions for Authors, and log into the Korean J Pediatr e-submission system. For assistance with manuscript submission, please contact:
Free archive
Anyone may access any past or current articles without logging in.
Korean Pediatric Society Office
#1606, Seocho World Officetel, 19 Seoun-ro, Seocho-gu, Seoul 137-070, Korea
TEL : +82-2-3473-7305    FAX : +82-2-3473-7307   E-mail:
BrowseCurrent IssueFor Authors and ReviewersAbout
Copyright© The Korean Pediatric Society. All right reserved.