2016 ADX
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SC5 Clinical Assay Development

9:00 NCI's Clinical Assay Development Program

Barbara A. Conley, M.D., Associate Director, Cancer Diagnosis Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute

The Clinical Assay Development Program (CADP) was created by NCI to provide resources to applicants wishing to transition promising markers/signatures into validated assays for clinical trials. Resources include the Clinical Assay Development Network (8 contracted CLIA-accredited labs and research lab) and Tissue Resources. Six projects have been accepted. Advice and resources to improve development strategy remains a critical need.

9:30 Laboratory-Developed Tests in the Genomic Medicine Era: Validation, Regulation and Challenges Faced by New Technologies and Clinical Applications

Andrea Ferreira-Gonzalez, Ph.D., Professor and Chair, Division of Molecular Diagnostics; Director, Molecular Diagnostics Laboratory, Department of Pathology, Virginia Commonwealth University

Laboratory-developed tests are those tests developed, validated and performed by clinical laboratories. There are standards and regulations in place for the validation of these tests before they are introduced into clinical practice. This presentation will discuss the process of validation under the current regulatory framework, and regulatory challenges posed by new technologies such as NGS and its clinical applications.

10:00 Clinical NGS Assays in S, M, L, XL, XXL or One Size Fits All?

Andrew Grupe, Ph.D., Senior Director, Pharmacogenomics, Celera/Quest Diagnostics

The throughput of next generation sequencing platforms continues to increase. How does this increase in scale influence clinical assay development?
This presentation will offer a user's perspective.

  • Translating NGS applications from a research environment to a standardized test offering in a clinical reference laboratory
  • Keeping step with technology and scientific discoveries
  • Providing clinical value beyond existing tests on traditional platforms
  • Infrastructure to interpret and report results
  • Consequences of hardware, software and reagent updates

10:30-10:45 Coffee Break

10:45 Public Policy for Clinical Laboratory Processes

Elaine Lyon, Ph.D., Medical Director, Molecular Genetics; Co-Medical Director, Pharmacogenomics, ARUP Laboratories; Associate Professor, University of Utah

This presentation will cover:

  • Validation of laboratory-developed tests in CLIA-certified laboratories
  • Analytical accuracy and reproducibility in molecular genetic testing
  • Clinical validity and utility

11:15 Assessment of the Analytical and Clinical Performance of Biomarker Assays

Gene Pennello, Ph.D., Team Leader, Division of Biostatistics, U.S. Food and Drug Administration

Biomarker assay validation has two components: analytical validation (assay measurement accuracy and reproducibility) and clinical validation (clinically and statistical significance of the assay result to inform for the clinical condition of interest). Additionally, a biomarker assay has clinical utility if it ultimately improves patient outcomes when used as intended. In this talk, I'll review analytical and clinical evaluation studies for biomarker assays.

11:45 Q&A with the Instructors

12:00 Close of Course


Barbara ConleyBarbara A. Conley, M.D., is Associate Director of the Cancer Diagnosis Program (CDP) in the Division of Cancer Treatment and Diagnosis (DCTD), National Cancer Institute. She is also a member of the Division's experimental therapeutics clinic. Her previous positions at the Institute included Chief of the Diagnostics Research Branch (Cancer Diagnosis Program), Senior Investigator in the Clinical Investigations Branch (Cancer Therapy Evaluation Program), and Head, Aerodigestive Diseases in the Intramural Medicine Branch.

Her positions outside of NCI have included Chief of the Division of Hematology/Oncology at Michigan State University (MSU) 2005-2010, and Assistant and Associate Professor at the University of Maryland from 1987-1997. Dr. Conley has been the principal investigator on several NCI grants or contracts.

Dr. Conley holds an undergraduate degree from the University of Michigan and received her M.D. from Michigan State University. She is board-certified in Internal Medicine and Medical Oncology, and has research interests in diagnostic markers, drug development, and cancers of the aerodigestive tract. She has published extensively in many journals, and serves on the editorial board of several professional publications.

Andrea Ferreira-GonzalezAndrea Ferreira-Gonzalez, Ph.D., is currently Professor and Chair of the Division of Molecular Diagnostics, in the Department of Pathology at Virginia Commonwealth University. She is also Director of the Molecular Diagnostics Laboratory at Virginia Commonwealth University Health System. She is an expert in molecular diagnostics in the area of genetics, oncology, coagulation and infectious diseases. She has been recognized both nationally and internationally for her work in the field of molecular diagnostics. Her publication record demonstrates over 80 publications in peer-reviewed literature and she has been sought after to contribute eight chapters to books in clinical molecular analysis. Dr Ferreira-Gonzalez is a consultant on the Clinical Genetics Panel of the Medical Devices Advisory Committee, Center for Devices and Radiological Health at the FDA. She served as a member of the Secretary's HHS Advisory Committee on Genetics, Health and Society (SACGHS) and the Chair of the SACGHS Task Force on Genetic Testing Oversight. In addition, she served on the Secretary of HHS Personalized Healthcare Workgroup. She also served as member of the Clinical Laboratory Improvement Advisory Committee (CLIAC) to HHS. She has been involved in the development of clinical guidelines with the Clinical and Laboratory Standards Institute. Dr. Ferreira-Gonzalez also served as President and Chair of the Professional Relations Committee for the Association for Molecular Pathology, Chair of the Nominating Committee and Chair of the Capital Section for the American Association of Clinical Chemistry.

Andrew GrupeAndrew Grupe, Ph.D., has spent over 17 years working in the diagnostics, biotechnology and pharmaceutical industries. Throughout his career Andrew's work has contributed to understanding the molecular causes of disease and treatment response. Andrew has been with Celera since 2001, where he serves as the Senior Director for Pharmacogenomics. His team applies next-generation sequencing, genotyping, and expression profiling in collaborations with pharma to identify and validate predictive biomarkers. Before taking on the pharmacogenomics responsibilities, he served as Director of Celera's CNS Research Group and studied genetic variants that contribute to Alzheimer's disease and Parkinson's disease. His group described the results of these studies in the scientific literature. Between 1996 and 2001 he was a Principal Scientist at Roche in Palo Alto where his group identified novel drug targets through genetic and gene expression analyses of murine model systems for human diseases and advanced small molecules to proof of principle in animal models up to early toxicity screening.

Prior to Roche, Andrew held a postdoctoral position at Genentech in the Endocrinology department, where he developed cell and animal models to analyze the contribution of specific proteins to diabetes. Andrew graduated with a PhD in 1991 from the Department of Chemistry at the University of Bochum, Germany, and spent one year at the Center for Molecular Neurobiology at the Universitaetsklinik Hamburg Eppendorf in Hamburg, Germany, to study the molecular function of potassium channels with Professor Olaf Pongs.

Elaine LyonElaine Lyon, Ph.D., is an Associate Professor in the Department of Pathology, University of Utah School of Medicine. In addition to her academic duties, Dr. Lyon is the Medical Director of Molecular Genetics and Genomics and Co-medical director of Pharmacogenetics at ARUP Laboratories, where she has overseen the growth of these laboratories for over 15 years. As a Medical Director, Dr. Lyon transitions new instrumentation and new molecular assays for inherited conditions into clinical diagnostics applications. In addition, she reviews molecular test results and provides sequence variant interpretation.

Gene PennelloGene A. Pennello, Ph.D., is an FDA Team Leader and Expert Mathematical Statistician in the Center for Devices and Radiological Health (CDRH), residing in the Diagnostics Devices Branch of the Division of Biostatistics. He has been with the Agency for fourteen years. Before joining FDA, Gene was a postdoctoral training fellow at the National Cancer Institute, Division of Cancer Epidemiology and Genetics. In 1993, he obtained his Ph.D. in Statistics from Oregon State University. He also has from the University California at Davis a Master's degree in Statistics, a Bachelor of Science degree in Statistics, and a Bachelor of Science degree in Computer Science and Mathematics. Dr. Pennello has experience in the FDA review of in vitro diagnostic (IVD) tests, in particular IVDs that measure biomarkers for prognostic or predictive claims. He also has experience in the review of diagnostic imaging systems. His current statistical research interests include Bayesian methods, multiple comparisons, and missing data.

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