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Next Generation Sequencing Applications, Challenges & Opportunities

Posted on Thu, Feb 13, 2014 @ 05:05 PM

Physicians currently rely on a variety of techniques to diagnose disease, from imaging to physical examinations to laboratory tests. Personalized medicine, which allows targeted therapies to be confidently prescribed, i.e. getting the right medication to the right patient at the right time, relies on a diagnosis that takes into account the molecular characteristics of the patient and the disease.

Many new capabilities have arisen in the past decade for increasing the precision of diagnosis, but none have greater potential than sequencing of a patient’s genome. Next-generation sequencing (NGS) has now made it possible to sequence a patient’s entire genome quickly and inexpensively. Such technologies are becoming widespread in biomedical research and the consensus in the community is that they will be more widely adopted in general medical care in the coming decade. However, there are significant challenges to this adoption, largely driven by the volume and complexity of the data, but also including regulatory, legal, and ethical considerations.

NxtGenMdXWP1Download the White-Paper Here



Applications, Challenges & Opportunities 

This whitepaper examines applications, challenges, and opportunities arising from NGS technologies in the field of Molecular Diagnostics (MDx). It focuses in particular on its utility in companion diagnostics, whereby molecular assays that measure levels of gene expression or specific mutations are used to provide a specific therapy for an individual’s condition by stratifying disease status, selecting the proper medication, and tailoring dosages to that patient’s specific needs. Topics in this paper include

  • How NGS can Advance Personalized Medicine
  • Companion Diagnostics
  • A Brief Description of Clinical Genomic Analysis Pipeline
  • Challenges to NGS in the Clinic
  • Regulatory Approval Pathways For Molecular Diagnostic Technology
  • Reimbursement

There is a growing body of knowledge that links genomic variation to an individual’s disease risk and drug response—both key insights required by personalized medicine. This progress has fostered a growing industry that targets the use of medical genomics to improve patient outcomes. Genes, or variations in the DNA of genes, are used as biomarkers of disease. They are all working to translate knowledge of medical genomics into clinical practice: developing better drugs, using existing drugs for new indications, predict adverse drug reactions, and identifying diseases before symptoms arise.


Will FitzHugh

Will FitzHugh








Tags: personalized medicine, NGS Sequencing, Companion Diagnostics


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