Laboratory Genetic Testing in Clinical Practice 2016


The genetic testing in various clinical conditions emerges to have an important role in both diagnosis and treatment. Recently, a revolution in genomic technologies from the first-generation Sanger method to next-generation high through-put sequencing and microarrays has occurred. All of these technologies have been widely applied for genome, exome, transcriptome sequencing, and epigenomics. The conclusions from basic research resulted in the development of new protocols with great potential for clinical application. Selected examples of their clinical use include breakthroughs in prena-tal screening, identification of rare genetic variants associated with monogenic Mendelian disorders, and efficient detection of either inherited or somatic mutations in cancer genes. This special issue is addressing laboratory genetic testing in practice , moving beyond classical concept of patient approach. Personalized medicine, which may provide accurate and effective treatment option in most of the human diseases in the future, will offer the promise of altering conventional medicine. Diagnosis, clinical findings, and treatment options vary in every individual. Thus, it is important to clarify wide spectrum of clinical and laboratory findings in examined patients. In this special issue, researchers present various cases and studies emphasizing the importance of clinical, laboratory, and genetic findings which will be beneficial in clinical practice. Among them there is ischemic stroke (IS) which is one of the important causes of morbidity and mortality. The authors showed that Vitamin K epoxide reductase complex subunit 1-(VKORC1-) 1639A allele can be a possible genetic risk factor for IS in Ukrainian population. On the other hand precision medicine mentioned above is one of the current models, which tries to explain the genetic indicators to improve the quality of medical care in recent days. Another paper points to molecular diagnostics for precision medicine in colorectal cancer (CRC). The authors discuss the future perspectives of CRC heterogeneity associated with anti-EGFR resistance and immune checkpoint blockage therapy. Authors of another paper find NGS data analysis problematic when the differentiation of the indel errors and false positive mutations is needed. The authors propose new software AGSA helping to detect false positive mutations in homopolymeric sequences at lower costs and in shorted time while increasing reliability, notably for homopolymer tracts. Tissue sampling and microdissection are very important steps in the molecular genetic analysis of cancer samples. This was described on the basis of microdissection strategy in pulmonary tumor. The authors demonstrate the importance of microdissection in morphologically different tumor components for pyrosequencing in …

DOI: 10.1155/2017/5798714

Cite this paper

@inproceedings{Cogulu2017LaboratoryGT, title={Laboratory Genetic Testing in Clinical Practice 2016}, author={Ozgur Cogulu and Jacqueline Schoumans and Gokce Toruner and Urszula Demkow and Emin Karaca and Asude Alpman Durmaz}, booktitle={BioMed research international}, year={2017} }