Highly Sensitive Cancer Mutation Profiling and Single-Cell Genomics Research Using Droplet Digital™ Technology Presented at ASHG 2016

ASHG 2016
Research using Droplet Digital technology from Dr. Curtis B. Hughesman (top), Dr. Miguel Alcaide (middle), and Dr. Maroof Adil (bottom) will be presented at the ASHG Annual Meeting.

Vancouver, BC — October 18, 2016 — New research demonstrating the power of Bio-Rad’s Droplet Digital™ technology for cancer mutation and single-cell transcriptome profiling will be presented at Bio-Rad’s Exhibitor Education Event during The American Society of Human Genetics (ASHG) Annual Meeting in Vancouver, British Columbia, October 18–22.

Bio-Rad’s Exhibitor Education Event entitled “Advanced Applications of Droplet Digital Technology: Liquid Biopsies to Single-Cell Transcriptome Profiling” will feature three researchers from universities in the U.S. and Canada. Two of the presentations will illustrate the robust ability of Droplet Digital PCR (ddPCR™) technology to rapidly detect and quantify somatic cancer mutations in both tissues and cell-free DNA. The third presentation will demonstrate the utility of the Illumina® | Bio-Rad® Single-Cell Sequencing Solution, which is used to understand human pluripotent stem cell (hPSC) population heterogeneity. Bio-Rad will also exhibit Droplet Digital instrumentation and offer more information about their current and forthcoming offerings at booth #618.

The event will be held from 1–2:30 PM on Friday, October 21, in Room 16 of the East Building. Please find further details of the featured presentations below:

New Approaches to Detect and Profile Diverse Cancers
Dr. Curtis B. Hughesman, postdoctoral researcher in Dr. Charles Haynes’ laboratory at the Michael Smith Laboratories, University of British Columbia, will present recent work demonstrating the utility of ddPCR for the clinical detection and quantification of cancerous DNA biomarkers. Dr. Hughesman’s talk is entitled “Thinking ‘inside’ the droplet: Re-envisioned molecular diagnostic assays using ddPCR for the detection of somatic mutations in cancer.”

The Haynes laboratory has developed novel methods that achieve exceptional sensitivity in ddPCR quantification of closely related alleles. Differentiating between wild-type and mutant genes with only a single base-pair difference can be very challenging. Their work demonstrates a novel model for predicting melting thermodynamics of dual-labeled hydrolysis probes, which they used to discriminate between and quantify clinically relevant mutant alleles such as BRAF V600E and KIT D816V in a ddPCR assay.

In addition, the Haynes laboratory has demonstrated a robust method for measuring copy number alterations (CNAs) in DNA extracted from frozen or formalin-fixed paraffin embedded (FFPE) tissue biopsy samples. These common clinical samples typically have a low quantity and quality of genomic DNA making it difficult to quantify gene copy numbers. The group’s strategy involves a novel experimental design, data analysis tool, and optimized primer and probe design in a multiplexed ddPCR assay offering reliable quantification of biomarker CNAs.

The Haynes laboratory has also achieved reliable and accurate quantification of the frequency of the fusion gene BCR-ABL. Using a novel ddPCR assay, this known chronic myelogenous leukemia (CML) oncogene can be quantified with a detection limit of 0.25 percent. In contrast, the standard approach for detecting BCR-ABL, fluorescence in situ hybridization (FISH), is a tedious assay that requires direct visualization and has a limit of detection of roughly two percent. The more sensitive and specific ddPCR assay provides a basis for the development of a potential molecular diagnostic for CML.

Multiplexing to Quantify Somatic Mutations in Lymphoma
Dr. Miguel Alcaide, research associate in the laboratory of Dr. Ryan Morin at the Simon Fraser University, will present a novel approach for detecting multiple recurrent somatic mutations in B-cell non-Hodgkin lymphoma (NHLs) samples in a talk entitled “Novel Droplet Digital PCR assays to detect and quantify somatic mutations in cancer tissues and cell-free DNA.”

Research from the Morin laboratory has produced a suite of ddPCR assays for detecting prevalent mutations in B-cell NHLs in fresh tumor, FFPE and liquid biopsies samples. These assays allow for differentiation between and counting of mutant and wild-type molecules using a single hydrolysis probe. Multiplexing was also implemented in assay design, allowing for the simultaneous detection of distinct mutations. These novel techniques overcome limitations in analytical sensitivity, cost, and scalability seen in current mutation detection options and offer a superior option for potential prognosis and therapeutic management in B-cell NHLs.

Scalable Single-Cell Sequencing
Dr. Maroof Adil, postdoctoral researcher in the laboratory of Dr. David Schaffer at the University of California, Berkeley, will present the final talk entitled “Investigating population heterogeneity in 3-D biomaterial human pluripotent stem cell (hPSC) cultures.” This unpublished research aims to understand hPSC population heterogeneity using the Illumina® | Bio-Rad® Single-Cell Sequencing Solution.

Human pluripotent stem cells (hPSCs) can be an unlimited cell source for a variety of biomedical applications including cell replacement therapy, disease modeling, drug and toxicology screening, and in vitro organogenesis. Dr. Adil will present exciting new findings in which single-cell RNA sequencing is used to determine population variation among human induced pluripotent stem cells. The cells were expanded within a chemically-defined 3-D biomaterial platform, which has the potential for scalable production for biomedical and clinical application.

For more information about the Illumina® | Bio-Rad® Single-Cell Sequencing Solution, visit bio-rad.com/ddSEQ.

To learn about additional applications for ddPCR, please visit bio-rad.com/digitalPCR.

The QX200™ Droplet Digital PCR System is intended for research use only.

About Bio-Rad
Bio-Rad Laboratories, Inc. (NYSE: BIO and BIOb) develops, manufactures, and markets a broad range of innovative products and solutions for the life science research and clinical diagnostic markets. The company is renowned for its commitment to quality and customer service among university and research institutions, hospitals, public health and commercial laboratories, as well as the biotechnology, pharmaceutical, and food safety industries. Founded in 1952, Bio-Rad is based in Hercules, California, and serves more than 100,000 research and healthcare industry customers through its global network of operations. The company employs over 8,000 people worldwide and had revenues exceeding $2 billion in 2015. For more information, please visit www.bio-rad.com.

For more information contact:
Viresh Patel
Bio-Rad Laboratories, Inc.

Ken Li
Chempetitive Group