Genetic testing: predictive value of genotyping for diagnosis and management of disease

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EPMA JOURNAL, vol.2, no.2, pp.173-179, 2011 (ESCI) identifier identifier

  • Publication Type: Article / Review
  • Volume: 2 Issue: 2
  • Publication Date: 2011
  • Doi Number: 10.1007/s13167-011-0077-y
  • Journal Name: EPMA JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.173-179
  • Hacettepe University Affiliated: Yes


This article describes predictive, preventive value of genetic tests and the implication of the use of testing for personalized treatment. This year marks the 10th anniversity of publishing of the sequence of the human genome. One important area of application of this mega project is a development of genetic tests for mutation detection in single gene disorders that has impact for pediatric age group patients and analyzing susceptibility genes as risk factors in common disorders. Types of genetic tests, new emerging technologies will enable developments of high-throughput approaches by microarrays of great application capacity as described here. As it is usual for all technologies used in health care, bioethical concerns has to be delt with. The ethical, social and governance issues associated with genetic testing are discussed.