Genetic testing in clinical pediatric practice

  • Yoo, Han Wook (Department of Pediatrics, Medical Genetics Clinic & Laboratory Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • Received : 2010.02.18
  • Accepted : 2010.02.22
  • Published : 2010.03.15


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 preandpostnatal 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 gene's 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.


Supported by : Ministry of Health, Welfare and Family Affairs


  1. McPherson E. Genetic diagnosis and testing in clinical practice. Clin Med & Res 2006;4:123-9
  2. Matsuda I, Niikawa N, Sato K, Suzumori K, Fukushima Y, Fujiki N, et al. Guidelines for genetic testing. The Japan Society of Human Genetics, Council Committee of Ethics. J Hum Genet 2001;46:163-5
  3. Strachen T, Read AP. Human molecular genetics. 3rd ed. London: Garland Science, 2004:509-36
  4. Gene Tests. Available from: http//
  5. Lewis R. Human genetics; concepts and application. 6th ed. Boston: McGraw Hill, 2005:1-20
  6. Simpson JL, Elias S. Genetics in obstetrics and gynecology. 3rd ed. Philadelphia:WB Saunders Co, 2003:345-456
  7. Donnai D. Genetic counselling and the prepregnancy clinic. In: Brock DJH, Rock CH, Ferguson-Smith M, editors. Prenatal diagnosis and screening. Edinburgh, Churchill Livingstone, 1992:3-10
  8. EuroGentest. Recommendations for genetic counseling related to genetic testing. Available from: http//
  9. OECD programme on biotechnology: Genetic testing-guidelines for millennium. Available from: http//
  10. Goodin K, Chen M, Lose E, Mikhail FM, Korf BR. Advances in genetic testing and applications in newborn medicine. NeoReviews 2008;9:e282-90
  11. Committee on genetics, American Academy of Pediatrics. Molecular genetic testing in pediatric practice: A subject review. Pediatrics 2000;106:1494-7
  12. Norton ME. Genetic screening and counseling. Curr Opin Obstet Gynecol 2008;20:157-63
  13. Burke W. Genetic testing. N Engl J Med 2002;347:1867-75
  14. Thompson RM, McInnes RR, Willard HF. Genetics in medicine. 7th ed. Philadelphia: WB Saunders Co, 2007:497-506
  15. Goldstein DB, Tate SK, Sisodiya SM. Pharmacogenomics goes genomic. Nat Rev Genet 2003;4:937-47
  16. Grossman I. Routine pharrmacogenetic testing in clinical practice: dream or reality? Pharmacogenomics 2007;8:1449-59
  17. Ingelman-Sundberg M. Pharmacogenomic biomarkers for prediction of severe adverse drug reactions. N Engl J Med 2008;358:637-9
  18. Khoury MJ. Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease. Genet Med 2003;5:261-8
  19. Lamberts SWJ, Uitterlinden AG. Genetic testing in clinical practice. Ann Rev Med 2009;60:431-42
  20. Burke W. Genetic testing in primary care. Ann Rev Genomics Hum Genet 2004;5:1-14
  21. Yoo HW. Clinical application of genetic testing. Korean J Med Ass 2006;49:589-96
  22. Hogarth S, Javitt G, Melzer D. The current landscape for direct-to-consumer genetic testing: Legal, ethical, and policy issues. Ann Rev Genomics Hum Genet 2008;9:161-82
  23. American College of Medical Genetics Board of Directors. ACMG statement on direct-to-consumer genetic testing 2008. Available from: http//
  24. Clayton EW. Ethical, legal, and social implications of genomic medicine. New Engl J Med 2003;349:562-9
  25. American Society of Human Genetics Board of Directors, American Board of Medical Genetics Board of Directors. Points to consider; ethical, legal and psychological implications of genetic testing in children and adolescents. Am J Hum Genet 1995;57:1233-41
  26. Lose EJ. The emerging role of primary care in genetics. Curr Opin Pediatr 2008;20:634-8
  27. Martin JR, Wilikofsky AS. Genetic counseling in primary care: longitudinal, psychological issues in genetic diagnosis and counseling. Primary Care Clin Office Pract 2004;31:509-24
  28. Harper PS. Practical genetic counseling. 6th ed. London: Hodder Arnold, 2004:77-130