Cogulu, O.

Demkow, U.

Durmaz, A.A.

Karaca, E.

Schoumans, J.

Toruner, G.

PubMed

Serveur académique lausannois

EditorialLaboratory Genetic Testing in Clinical Practice 2016Ozgur Cogulu,1 Jacqueline Schoumans,2 Gokce Toruner,3 Urszula Demkow,4Emin Karaca,1 and Asude Alpman Durmaz11Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey2Cancer Cytogenetic Unit, Department of Medical Genetics, Lausanne University Hospital, 1011 Lausanne, Switzerland3Institute of Genomic Medicine, UMDNJ-NJ Medical School, Newark, NJ 07103, USA4Department of Laboratory Diagnostics and Clinical Immunology, Medical University of Warsaw, 00-576 Warsaw, PolandCorrespondence should be addressed to Ozgur Cogulu; ozgur.cogulu@ege.edu.trReceived 21 November 2016; Accepted 22 November 2016; Published 4 January 2017Copyright © 2017 Ozgur Cogulu et al. This is an open access article distributed under the Creative Commons Attribution License,which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.The genetic testing in various clinical conditions emergesto 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 thesetechnologies have been widely applied for genome, exome,transcriptome sequencing, and epigenomics.The conclusionsfrom basic research resulted in the development of new pro-tocols with great potential for clinical application. Selectedexamples of their clinical use include breakthroughs in prena-tal screening, identification of rare genetic variants associatedwith monogenic Mendelian disorders, and efficient detectionof either inherited or somatic mutations in cancer genes.Thisspecial issue is addressing laboratory genetic testing in prac-tice, moving beyond classical concept of patient approach.Personalized medicine, which may provide accurate andeffective treatment option in most of the human diseases inthe future, will offer the promise of altering conventionalmedicine. Diagnosis, clinical findings, and treatment optionsvary in every individual. Thus, it is important to clarify widespectrum of clinical and laboratory findings in examinedpatients. In this special issue, researchers present variouscases and studies emphasizing the importance of clinical,laboratory, and genetic findings which will be beneficial inclinical practice. Among them there is ischemic stroke (IS)which is one of the important causes of morbidity and mor-tality. The authors showed that Vitamin K epoxide reductasecomplex subunit 1- (VKORC1-) 1639A allele can be a possiblegenetic risk factor for IS in Ukrainian population. On theother hand precisionmedicine mentioned above is one of thecurrent models, which tries to explain the genetic indicatorsto improve the quality of medical care in recent days.Another paper points to molecular diagnostics for precisionmedicine in colorectal cancer (CRC). The authors discussthe future perspectives of CRC heterogeneity associatedwith anti-EGFR resistance and immune checkpoint blockagetherapy. Authors of another paper find NGS data analysisproblematic when the differentiation of the indel errors andfalse positive mutations is needed. The authors propose newsoftware AGSA helping to detect false positive mutations inhomopolymeric sequences at lower costs and in shorted timewhile increasing reliability, notably for homopolymer tracts.Tissue sampling and microdissection are very importantsteps in the molecular genetic analysis of cancer samples.This was described on the basis of microdissection strategy inpulmonary tumor. The authors demonstrate the importanceof microdissection in morphologically different tumor com-ponents for pyrosequencing in KRAS and BRAF mutations.Despite rapid technological advances in medicine, essentialhypertension (EH) etiology remains largely unknown. Wepublish the first research assessing the atrial natriureticpeptide gene polymorphisms in both EH and type 2 diabetesmellitus patients amongMalaysian population. Copy numbervariations (CNVs) have attracted increasing attention as can-cer susceptibility regulators. Further paper describes CNV-67048 of WW domain-containing oxidoreductase which isshown to be a risk factor of epithelial ovarian cancer inChinese population. CNV based microarray is an importantHindawi Publishing CorporationBioMed Research InternationalVolume 2017, Article ID 5798714, 2 pageshttp://dx.doi.org/10.1155/2017/57987142 BioMed Research Internationaltechnology which provides to investigate the CNV of wholegenome. The detection rate and pathogenic yield of chro-mosomalmicroarray analysis (CMA) in neurodevelopmentaldisorders are described.The authors established the detectionrate and pathogenic yield of CMA as depending on theprimary indications for testing, the age of the individualstested, and the specialty of the ordering doctor. Targetedsequencing is the method of choice for examining genes inspecific pathways or in genetic heterogeneity which is respon-sible for many systemic disorders. Further article describestargeted sequencing in inherited retinal dystrophies (IRD).The study demonstrates that NGS represents a comprehen-sive cost-effective approach for IRDs molecular diagnosis.The identification of the genetic alterations underlying thephenotype enabled the clinicians to achieve a more accuratediagnosis.The results emphasize the importance ofmoleculardiagnosis coupled with clinic information to unravel theextensive phenotypic heterogeneity of these diseases.Ozgur CoguluJacqueline SchoumansGokce TorunerUrszula DemkowEmin KaracaAsude Alpman Durmaz

Laboratory Genetic Testing in Clinical Practice 2016.

Cogulu, Ozgur

Schoumans, Jacqueline

Toruner, Gokce

Demkow, Urszula

Karaca, Emin

Durmaz, Asude Alpman

Ege University Institutional Repository

BioMed Research International

Laboratory Genetic Testing in Clinical Practice 2016

Ozgur Cogulu

Jacqueline Schoumans

Gokce Toruner

Urszula Demkow

Emin Karaca

Asude Alpman Durmaz

Crossref

EditorialLaboratory Genetic Testing in Clinical Practice 2016Ozgur Cogulu,1 Jacqueline Schoumans,2 Gokce Toruner,3 Urszula Demkow,4Emin Karaca,1 and Asude Alpman Durmaz11Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey2Cancer Cytogenetic Unit, Department of Medical Genetics, Lausanne University Hospital, 1011 Lausanne, Switzerland3Institute of Genomic Medicine, UMDNJ-NJ Medical School, Newark, NJ 07103, USA4Department of Laboratory Diagnostics and Clinical Immunology, Medical University of Warsaw, 00-576 Warsaw, PolandCorrespondence should be addressed to Ozgur Cogulu; ozgur.cogulu@ege.edu.trReceived 21 November 2016; Accepted 22 November 2016; Published 4 January 2017Copyright © 2017 Ozgur Cogulu et al. This is an open access article distributed under the Creative Commons Attribution License,which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.The genetic testing in various clinical conditions emergesto 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 thesetechnologies have been widely applied for genome, exome,transcriptome sequencing, and epigenomics.The conclusionsfrom basic research resulted in the development of new pro-tocols with great potential for clinical application. Selectedexamples of their clinical use include breakthroughs in prena-tal screening, identification of rare genetic variants associatedwith monogenic Mendelian disorders, and efficient detectionof either inherited or somatic mutations in cancer genes.Thisspecial issue is addressing laboratory genetic testing in prac-tice, moving beyond classical concept of patient approach.Personalized medicine, which may provide accurate andeffective treatment option in most of the human diseases inthe future, will offer the promise of altering conventionalmedicine. Diagnosis, clinical findings, and treatment optionsvary in every individual. Thus, it is important to clarify widespectrum of clinical and laboratory findings in examinedpatients. In this special issue, researchers present variouscases and studies emphasizing the importance of clinical,laboratory, and genetic findings which will be beneficial inclinical practice. Among them there is ischemic stroke (IS)which is one of the important causes of morbidity and mor-tality. The authors showed that Vitamin K epoxide reductasecomplex subunit 1- (VKORC1-) 1639A allele can be a possiblegenetic risk factor for IS in Ukrainian population. On theother hand precisionmedicine mentioned above is one of thecurrent models, which tries to explain the genetic indicatorsto improve the quality of medical care in recent days.Another paper points to molecular diagnostics for precisionmedicine in colorectal cancer (CRC). The authors discussthe future perspectives of CRC heterogeneity associatedwith anti-EGFR resistance and immune checkpoint blockagetherapy. Authors of another paper find NGS data analysisproblematic when the differentiation of the indel errors andfalse positive mutations is needed. The authors propose newsoftware AGSA helping to detect false positive mutations inhomopolymeric sequences at lower costs and in shorted timewhile increasing reliability, notably for homopolymer tracts.Tissue sampling and microdissection are very importantsteps in the molecular genetic analysis of cancer samples.This was described on the basis of microdissection strategy inpulmonary tumor. The authors demonstrate the importanceof microdissection in morphologically different tumor com-ponents for pyrosequencing in KRAS and BRAF mutations.Despite rapid technological advances in medicine, essentialhypertension (EH) etiology remains largely unknown. Wepublish the first research assessing the atrial natriureticpeptide gene polymorphisms in both EH and type 2 diabetesmellitus patients amongMalaysian population. Copy numbervariations (CNVs) have attracted increasing attention as can-cer susceptibility regulators. Further paper describes CNV-67048 of WW domain-containing oxidoreductase which isshown to be a risk factor of epithelial ovarian cancer inChinese population. CNV based microarray is an importantHindawiBioMed Research InternationalVolume 2017, Article ID 5798714, 2 pageshttps://doi.org/10.1155/2017/57987142 BioMed Research Internationaltechnology which provides to investigate the CNV of wholegenome. The detection rate and pathogenic yield of chro-mosomalmicroarray analysis (CMA) in neurodevelopmentaldisorders are described.The authors established the detectionrate and pathogenic yield of CMA as depending on theprimary indications for testing, the age of the individualstested, and the specialty of the ordering doctor. Targetedsequencing is the method of choice for examining genes inspecific pathways or in genetic heterogeneity which is respon-sible for many systemic disorders. Further article describestargeted sequencing in inherited retinal dystrophies (IRD).The study demonstrates that NGS represents a comprehen-sive cost-effective approach for IRDs molecular diagnosis.The identification of the genetic alterations underlying thephenotype enabled the clinicians to achieve a more accuratediagnosis.The results emphasize the importance ofmoleculardiagnosis coupled with clinic information to unravel theextensive phenotypic heterogeneity of these diseases.Ozgur CoguluJacqueline SchoumansGokce TorunerUrszula DemkowEmin KaracaAsude Alpman DurmazSubmit your manuscripts athttps://www.hindawi.comHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014 Anatomy Research InternationalPeptidesInternational Journal ofHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Hindawi Publishing Corporation http://www.hindawi.com International Journal ofVolume 2014ZoologyHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Molecular Biology International GenomicsInternational Journal ofHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014The Scientific World JournalHindawi Publishing Corporation http://www.hindawi.com Volume 2014Hindawi Publishing Corporationhttp://www.hindawi.com Volume 2014BioinformaticsAdvances inMarine BiologyJournal ofHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Hindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Signal TransductionJournal ofHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014BioMed Research InternationalEvolutionary BiologyInternational Journal ofHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Hindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Biochemistry Research InternationalArchaeaHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Hindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Genetics Research InternationalHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Advances inVirolog yHindawi Publishing Corporationhttp://www.hindawi.comNucleic AcidsJournal ofVolume 2014Stem CellsInternationalHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Hindawi Publishing Corporationhttp://www.hindawi.com Volume 2014Enzyme ResearchHindawi Publishing Corporationhttp://www.hindawi.com Volume 2014International Journal ofMicrobiology

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