Next Generation Sequencing Diagnosis in Neurological Disorders

سال انتشار: 1396
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 490

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شناسه ملی سند علمی:

NGCMED10_129

تاریخ نمایه سازی: 16 تیر 1397

چکیده مقاله:

In the vast majority of neurological diseases, there are remarkable clues of a genetic contribution, in additionthere are many conditions with monogenic inheritance. In both group of complex and monogenic neurologicaldisorders, there are wide spectrum and diverse clinical manifestation, severity, age of onset, prognosis andtreatment responses. Specifically, neurogenetic diseases can be subcategorized as neonatal neurodevelopmentaldisorders, monogenic disorders, trinucleotide expansion disorders, childhood or adult-onset neuropsychiatricdisorders as well as the late onset neurodegenerative diseases. Besides, in the revolutionizing era of personalizedgenomic medicine, next generation sequencing technologies as highthrouput and state-of-the-art approaches arecommonly used as diagnostic and prognostic tools in a clinical setting. The choice of employing which NGSapproach among whole genome sequencing (WGS), Whole exome sequencing (WES) and targeted panels,depends on the genetic profile of a particular neurogenetic disorder. WES is best for diagnostic odyssey casesin which neurologic localization is not well proven or the genetic differential diagnosis is not restricted to anycertain disease category. Among those with a clear genetic differential diagnosis, targeted-panel NGS are the bestchoice.In Neurogenetics clinic, translating NGS enormous output data into tangible advantage for patients and clinicianscan be challenging. In fact, there are several hurdles and caveats to deliberate even before a NGS diagnostictesting can be optimally practical. These challenges include definition a certain phenotype due to the bothclinically and genetically heterogenous nature of these disorders, interpretation of NGS results particularly thevariants with uncertain significance and navigating this type of uncertainty, trustworthiness of NGS serviceproviders, cost-effectiveness and socio-cultural and ethical considerations which all influence the diagnosticprocedure.

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نویسندگان

Mohamad Dehstani

Medical Genetics Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

Pedram Torabian

Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran

Ariane Sadr-Nabavi

Medical Genetics Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran- Genetics Laboratory & Counseling Center, Academic Center for Education, Culture & Research (ACECR), Mashhad, Iran