Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges.

نویسندگان

  • Rajyalakshmi Luthra
  • Hui Chen
  • Sinchita Roy-Chowdhuri
  • R Rajesh Singh
چکیده

The application of next-generation sequencing (NGS) to characterize cancer genomes has resulted in the discovery of numerous genetic markers. Consequently, the number of markers that warrant routine screening in molecular diagnostic laboratories, often from limited tumor material, has increased. This increased demand has been difficult to manage by traditional low- and/or medium-throughput sequencing platforms. Massively parallel sequencing capabilities of NGS provide a much-needed alternative for mutation screening in multiple genes with a single low investment of DNA. However, implementation of NGS technologies, most of which are for research use only (RUO), in a diagnostic laboratory, needs extensive validation in order to establish Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP)-compliant performance characteristics. Here, we have reviewed approaches for validation of NGS technology for routine screening of tumors. We discuss the criteria for selecting gene markers to include in the NGS panel and the deciding factors for selecting target capture approaches and sequencing platforms. We also discuss challenges in result reporting, storage and retrieval of the voluminous sequencing data and the future potential of clinical NGS.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Strategies and Clinical Applications of Next Generation Sequencing

Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput se­quencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...

متن کامل

Molecular Testing in Microbiology

There are significant challenges associated with qualitative and quantitative nucleic acid tests performed in diagnostic laboratories. The development of internationally available certified reference materials which can be traced to reference measurements will contribute to a better understanding of the performance characteristics of nucleic acid tests and enhance reliability and comparability ...

متن کامل

Strategies and Clinical Applications of Next Generation Sequencing

Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput se­quencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...

متن کامل

Fourth Generation of Next‐Generation Sequencing Technologies: Promise and Consequences

In this review, we discuss the emergence of the fourth-generation sequencing technologies that preserve the spatial coordinates of RNA and DNA sequences with up to subcellular resolution, thus enabling back mapping of sequencing reads to the original histological context. This information is used, for example, in two current large-scale projects that aim to unravel the function of the brain. Al...

متن کامل

Precision medicine, technologies, and molecular diagnostics

Introduction: Genetics, cellular and molecular medicines are cutting-edge sciences and technologies that play an important role in improving human health and quality of life. In addition, medical and biological sciences have clearly shown that the onset of diseases differs from person to person due to their different genetic profiles and variations in molecular basis. Therefore, it is feasible ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Cancers

دوره 7 4  شماره 

صفحات  -

تاریخ انتشار 2015