Morning Short Course

Next-Generation Sequencing in Molecular Pathology 

Monday, February 10, 2014 | 8:30 - 11:30 am | Moscone North Convention Center | San Fransisco, CA 

Scientific Advisor:

Nazneen Aziz, Ph.D., Director of Molecular Medicine in the College of American Pathologists

Technology and Interpretation of Next Generation Sequencing

Wayne Grody, M.D., Ph.D., FCAP, FACMG, Professor, Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine.
Karl Voelkerding, M.D., Professor, Pathology, University of Utah; Medical Director, Genomics and Bioinformatics, ARUP Laboratories.

The advent of massively parallel or “next generation” DNA sequencing has finally brought into reach the ability to sequence an individual’s entire genome at reasonable cost. Some are predicting that this achievement will supplant the single-gene genetic testing that largely comprises molecular medicine today. But if so, how will we handle the massive amounts of data produced, distinguish benign variants from pathologic mutations, and convey their clinical implications to doctors and patients?

This presentation will review:

  • technical aspects, tremendous power and pitfalls of next-generation sequencing
  • data analysis approaches and challenges in next-generation sequencing
  • new challenges in test interpretation and genetic counseling
  • applications emphasizing genetic disorders
  • new requirements for informed consent
  • risks of genetic discrimination
  • impacts of gene patents, government regulation, and direct-to-consumer marketing

Development of Laboratory Standards for Next-Generation Sequencing as a Clinical Tool

Nazneen Aziz, Ph.D., Director of Molecular Medicine, Transformation Program Office, College of American Pathologists

The rapid evolution of next generation sequencing (NGS) technologies presents significant opportunities and challenges for researchers and clinicians for improving health outcomes; particularly with respect to an increased emphasis on personalized and preventive medicine. Adoption of NGS in the clinical laboratory setting requires the adoption of many processes and procedures, such as, the analytic and clinical validation of the test, CLIA/CAP certification, standards for reference materials for proficiency testing, and questions regarding reimbursement and informed consent. This talk will cover what is practically needed for clinical adoption of NGS such as regulatory and professional standards, development, availability, and access to reference materials, and the laboratory professional's role for ensuring high quality test results that are useful for informing clinical decision making. Dr. Aziz will focus on the laboratory accreditation standards being developed at CAP for NGS in collaboration with ACMG and AMP.

> You may also be interested in the Digital Pathology conference taking place from February 10-12.

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