Genetic testing: predictive value of genotyping for diagnosis and management of disease
Author:
Open Access
- 6 May 2011
- journal article
- review article
- Published by Springer Nature in EPMA Journal
- Vol. 2 (2) , 173-179
Abstract
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.Keywords
This publication has 55 references indexed in Scilit:
- Definitions of genetic testing in European legal documentsJournal of Community Genetics, 2012
- A map of human genome variation from population-scale sequencingNature, 2010
- Mechanisms of trinucleotide repeat instability during human developmentNature Reviews Genetics, 2010
- Statement of the ESHG on direct-to-consumer genetic testing for health-related purposesEuropean Journal of Human Genetics, 2010
- Next-generation genomics: an integrative approachNature Reviews Genetics, 2010
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesThe American Journal of Human Genetics, 2010
- Cystic fibrosis: Exploiting its genetic basis in the hunt for new therapiesPharmacology & Therapeutics, 2010
- Genetic association analysis of copy-number variation (CNV) in human disease pathogenesisGenomics, 2009
- Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaProceedings of the National Academy of Sciences, 2008
- Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature, 2007