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2014 Archived Content

Cambridge Healthtech Institute’s Eleventh Annual

Clinical Sequencing

Translating NGS to Practice

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


The implementation of next-generation sequencing has drastically impacted clinical decision-making, but the process for doing so has not been carefully examined nor fully understood. Sequencing data increases our understanding of the biology of cancer and inherited disorders, and has the capacity to enable less invasive methods for prenatal and newborn diagnosis. This session will review the efforts that are underway to standardize and regulate the use of sequence information, and to understand how it will usher in a new era of screening and diagnosis of human diseases.

Day 1 | Day 2 | Day 3 | Download 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

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

1:00 Session Break

1:15 Luncheon Presentation I: Simoa HD-1: A Fully Automated, Multiplexed Immunoanalyzer with Single Molecule Sensitivity 

David C. Duffy, Ph.D., CTO, Quanterix Corporation

Single Molecule Array (Simoa) technology allows multiple proteins to be detected at concentrations 1000-fold lower than currently possible. Simoa is based on the capture of single molecules on paramagnetic beads, and their detection in arrays of femtoliter wells. We will illustrate the power of this analytical sensitivity in diagnosing cancer, neurological diseases, and infectious diseases using the Simoa HD-1 Analyzer, a fully automated instrument designed for use in clinical research and diagnosis.

1:45 Luncheon Presentation II: A Novel Exosome RNA Extraction Platform Enabling Biomarker Discovery and Diagnostic Development for Personalized Medicine

Johan Skog, Ph.D., CSO, Exosome Diagnostics

Exosomes are released by cells as an active process of communication, and contain stable, intact nucleic acids, making them an ideal source for biomarker discovery and diagnostic development. ExoRNeasy was optimized to extract RNA, including mRNA, microRNAs, and other RNAs, from plasma and serum. The high quality RNA generated from the ExoRNeasy kit enables profiling of tumor associated mutations as well as RNA levels in biofluids of cancer patients.

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 3 | Download Brochure