2013 Archived Content
Fourth Annual

Personalized Diagnostics

Getting Ready for Clinical Use


Day 1 | Day 2 | Day 3

Friday, February 15

8:00 am Morning Coffee


Cancer Molecular Markers 

8:30 Chairperson’s RemarksRob Mohney, Ph.D., Director, Projects (North American Pharma-Biotech), Metabolon, Inc. 

8:35 Epigenetically Modified Highly Methylated Coding and Non-Coding RNA Promoter CpG Islands as Early Diagnostics Markers for Human Melanomas

Ranjan Perera, Ph.D., Associate Professor and Scientific Director, Analytical Genomics and Bioinformatics, Metabolic Signaling & Disease, Sanford-Burnham Medical Research Institute

Identification of previously uncharacterized methylated CpG islands in the regulatory regions as well as gene bodies of coding and non-coding genes in melanoma genome opens the possibility of using this extensive genome-wide epigenetic information for future melanoma stratification in patients.

9:05 NGS of Immune Repertoire for Cancer Biomarker Discovery

Jian Han, M.D., Ph.D., Faculty Investigator, HudsonAlpha Institute for Biotechnology, Director, R10K Project

We have developed a inclusive and semi-quantitative multiplex PCR method to amplify immune repertoire from a sample. A free online software package is developed to aid CDR3 analyses that featuring a dynamic error removal filter. The repertoire sequencing library can be generated automatically with iCubate instrument. We have launched an international collaboration project called R10K (R10K.org), aimed at sequencing 10,000 samples and study 100 diseases for biomarker discoveries.

9:35 Mutation Detection in Plasma Tumor DNA

Andrea L. Richardson, M.D., Ph.D., Associate Professor, Pathology, Harvard Medical School; Department of Cancer Biology, Dana-Farber Cancer Institute; Senior Staff Pathologist, Brigham and Women’s Hospital, Department of Pathology

The presentation will describe the BEAMING technology for mutation detection from free tumor DNA in plasma, present data from published studies on the specificity and sensitivity of the method, describe the potential applications of the technology to clinical management, and discuss the limitations of the method.

10:05 Coffee Break

Gene Panels in Oncology and Inherited Disorders 

10:25 Chairperson's Remarks
Karl Voelkerding, M.D., Associate Professor, Pathology, University of Utah; Medical Director, Advanced Technology and Bioinformatics, ARUP Laboratories 

10:30 Implementing Next-Generation Sequencing for Cancer Diagnostics

Colin C. Pritchard, M.D., Ph.D., Assistant Professor & Associate Director, Genetics and Solid Tumors Laboratory, Laboratory Medicine, University of Washington

Next-generation sequencing technology is especially promising for cancer diagnostics, both for germline sequencing for hereditary cancer risk, and for tumor-based sequencing for precision cancer therapy. However, there are important challenges related to clinical assay validation, data interpretation, and effective reporting of complex results. This presentation will review considerations related to clinical implementation of next-generation sequencing based gene panels for diagnosis of inherited cancer predisposition, and for identification of somatic mutations in tumor tissue to guide therapy.

11:00 The Impact of Expanded Next-Generation Sequencing Panel Testing for Inherited Cardiomyopathies on Disease Diagnosis: Lessons from the First 500 Cases

Birgit H. Funke, Ph.D., FACMG, Assistant Professor of Pathology, MGH/Harvard Medical School; Director of Clinical Research and Development, Laboratory for Molecular Medicine, PCPGM

Next generation sequencing has radically changed the landscape of genetic testing.  This presentation will review the evolution of medical sequencing for inherited cardiomyopathies and review results from next generation sequencing for 46 cardiomyopathy genes on over 500 cases.

11:30 pm Exome Sequencing for Candidate Gene Discovery in Inherited Disorders

Karl Voelkerding, M.D., Associate Professor, Pathology, University of Utah; Medical Director, Advanced Technology and Bioinformatics, ARUP Laboratories

Exome sequencing has increasingly been employed for candidate gene identification in the clinical research setting and multiple, successful applications have been reported. Now, exome sequencing is actively being translated into the clinical diagnostic arena for patient care. This presentation will describe principles of exome sequencing including technical process steps and approaches for analyzing exome data. Specifically, bioinformatics approaches for candidate gene identification will be presented in the context of clinical examples. Translation of exome sequencing into clinical diagnostics requires appropriate methodological characterization and validation to achieve standards necessary for clinical care. In this context, the diagnostic advantages, utility and limitations of exome sequencing will be discussed.

12:00 Development of Exosome-Based Blood, Urine, and CSF Molecular Diagnostics

Hannah Mamuszka, Vice President, Business Development, Exosome Diagnostics

Exosome Diagnostics is developing biofluid-based molecular diagnostic tests for use in personalized medicine. Exosomes and other microvesicles are shed into all biofluids, including blood, urine, and cerebrospinal fluid, forming a highly enriched source of intact, stable, disease-specific nucleic acids, including mRNA. Recent clinical data has demonstrated significant utility in brain cancer, prostate cancer, and lung cancer.

12:30 Lunch on Your Own


Companion Diagnostics Post-Approval 

1:45 PANEL DISCUSSION: Companion Diagnostics Post-Approval: Communicating Information to the Patient in a Global Environment

Remaining challenges of selling and marketing a companion diagnostic in the global marketplace and communicating information to the patient.

Moderator:Glenn A. Miller, Ph.D., Vice President and Head, Personalized Healthcare and Biomarkers, Strategy, Portfolio and Alliances, AstraZeneca Pharmaceuticals LP

Panelists: Richard E. Buller, M.D., Ph.D., Vice President, Translational Oncology, Pfizer, La Jolla

Walter H. Koch, Ph.D., Vice President and Head, Global Research, Roche Molecular Diagnostics

William Pignato, Global Head, Regulatory Affairs, Novartis Institutes for BioMedical Research, Inc.

3:20 Close of Conference


Day 1 | Day 2 | Day 3

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Premier Sponsors

Beckman Coulter Life Sciences 

Boston Healthcare



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Cofactor Genonics


Menarini Silicon Biosystems






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