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2014 Archived Content

Cambridge Healthtech Institute’s Fifth Annual

Personalized Diagnostics

Best Practices for Clinical Implementation

February 10-12, 2014 | Moscone North Convention Center | San Francisco, CA  


The ability to identify causal mutations and deliver a genetic diagnosis is the primary goal of personalized diagnostics. Identifying undiagnosed diseases with genomic tools will improve outcomes for patients and change the workflow in clinical centers. Furthermore, next gen sequencing (NGS) is being used with other techniques to offer a comprehensive diagnosis.

This conference will explore the best strategies for overcoming technical bottlenecks, gaining clinical adoption and commercializing tests for the personalized treatment of cancer, CV, and inherited diseases. Experts will be asked to share their experience on gaining regulatory approval.

Scientific Advisory Board

German Pihan, M.D., Director, Hematopathology Lab, Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School
Karl Voelkerding, M.D., Associate Professor, Pathology, University of Utah; Medical Director, Advanced Technology and Bioinformatics, ARUP Laboratories


Day 1 | Day 2 | Day 3Download Brochure 

Monday, February 10 

10:30 am Conference Program Registration 

11:50 Chairperson's Opening Remarks 

Julien N. Bradley, MBA, Senior Director, Sales & Marketing, Quanterix Corporation


CPT Coding

Moderator: Jill Hagenkord, M.D., CMO & Senior Vice President, InVitae (2013 AMP Economic Affairs Committee and 2014 AMP Training and Education Committee)
Elaine Lyon, Ph.D., Medical Director, Molecular Genetics, ARUP (2014 AMP President and 2013 AMP Economic Affairs, Professional Relations, Strategic Opportunities Committees)
Chris L. Jagmin, M.D., Senior Medical Director, National Medical Policy and Operations, Aetna

•          Overview of CPT codes
•          Transitioning to the molecular pathology codes from the clinical laboratory’s perspective
•          Understanding rationale behind new CPT codes

1:00 Session Break 

1:15 Luncheon Presentation I: Applications of Biomarkers in Oncology Clinical Development

Jelveh Lameh, Ph.D., Executive Director, BioPharma Services, Genoptix, Inc., A Novartis Company

The desire for personalized cancer treatments is increasing with the advent of new technologies and the changing regulatory landscape. This presentation will highlight applications of biomarker assays that have been developed and utilized in clinical trials for exploratory use, pharmacodynamic assessments, target enrichment, and patient preselection and stratification. Case studies utilizing genetic and protein tissue biomarkers in clinical trials will be discussed.   


1:45 Luncheon Presentation II (Sponsorship Opportunity Available)   

2:15 Session Break 


2:30 Chairperson's Remarks 

Daniel H. Farkas, Ph.D., HCLD, FACB, Laboratory Director, Sequenom Center for Molecular Medicine

2:35 Noninvasive Prenatal Testing by Maternal Plasma DNA Sequencing: From Aneuploidy Testing to Fetal Whole Genome and Methylome Sequencing 

Dennis Lo, M.D., Ph.D., Director, Li Ka Shing Institute of Health Sciences, Chinese University of Hong Kong

Over the last 5 years, there is much interest in the use of massively parallel sequencing of plasma DNA for noninvasive prenatal testing. Fetal chromosomal aneuploidies, genome-wide molecular karyotyping and even fetal whole genome sequencing were accomplished through the sequencing of maternal plasma DNA. We have shown that this approach can be used for noninvasive determination of the fetal methylome. This latter development has opened exciting opportunities for prenatal testing and research.

3:05 Noninvasive Fetal RHD Genotyping 

Daniel H. Farkas, Ph.D., HCLD, FACB, Laboratory Director, Sequenom Center for Molecular Medicine

Antepartum anti-D immunoprophylaxis is standard of care in pregnancy management but is administered unnecessarily to the approximately 40% of mothers who subsequently deliver Rh-negative babies. Clinical laboratory investigation using circulating, cell-free fetal DNA as an analyte provides the potential for more rational management of Rh-negative pregnant women.

3:35 Noninvasive Prenatal Testing 2014: The Basics and Beyond 

Christopher Robinson, M.D., MSCR, Associate Professor, Maternal Fetal Medicine, Obstetrics and Gynecology, University of Virginia

This presentation will present the current, state-of-the-art in applied screening and diagnostics involving cffDNA. A focus on the understanding of integration of bench science and bioinformatics will provide the attendee with an expanded understanding of the utilization of cffDNA as a substrate for clinical information and decision-making.

4:05 Sponsored Presentations (Opportunities Available)   

4:35 Refreshment Break and Transition to Plenary Keynote 

5:00 Plenary Keynote Session (Click Here For More Details) 

6:15 Grand Opening Reception in the Exhibit Hall with Poster Viewing 

7:45 Close of Day 

Day 1 | Day 2 | Day 3Download Brochure