Agenda Share

APR 13, 2017 1:30 PM PDT

Title coming soon

Gabriel Otte, PhD

Founder, Chief Executive Officer, and Director, Freenome Ltd

Read More
APR 13, 2017 1:30 PM PDT

Ultra-sensitive single-molecule array (Simoa) technology to revolutionize CNS biomarkers

Andreas Jeromin, PhD

Chief Medical Officer (consulting), Quanterix Corp
BIOGRAPHY

The presentation will describe the principles of the ultra-sensitive single-molecule array (Simoa) developed by Quanterix and the application of the Simoa technology to the development of a toolbox of CNS biomarkers. The presentation will include several case studies across CNS diseases, ranging from traumatic brain injury to Alzheimer's Disease

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 12:00 PM PDT

Lyme Disease, Molecular Diagnostics, and Detection of New Causative Agents

Bobbi Pritt, MD

Pathologist, Laboratory Medicine and Pathology, Mayo Clinic
BIOGRAPHY

Lyme disease is a common tick-transmitted infection caused by spirochetes in the Borrelia burgdorferi sensu lato complex. Borrelia burgdorferi is the primary cause of Lyme disease in the United States, while B. burgdorferi, B. garinii and B. afzelii cause Lyme disease in Europe. Although Lyme disease is primarily diagnosed using clinical and serologic criteria, molecular testing may play an important adjunctive role in detection and have contributed greatly to our knowledge of Lyme disease epidemiology. Molecular tests also increase our ability to detect the presence of co-infecting organisms and allow for detection of previously unknown organisms, such as Borrelia mayonii. This presentation will provide an overview of the available molecular methods for diagnosing Lyme disease and discuss future applications of these technologies.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 10:30 AM PDT

Why Variants Matter: NGS Bioinformatics Simplified for Oncology & Virology

Sponsored By: Vela Diagnostics

Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies perfectly matched to the situation. However, adoption of this technology in the clinic has been slower than expected due to various factors including ease-of-use, expense, footprint, and data complexity. Today many of these hurdles have been overcome as NGS workflows have become increasingly automated, smaller, and less expensive. For many in the clinic, the key to making this technology more accessible is automated bioinformatics that supports clinical decision-making.

In this presentation we will delve into the sequencing world from the perspective of the variant. We’ll uncover how today’s sophisticated bioinformatics engines can take raw sequencing data and transform the results into accurate and actionable reports that point to therapies and clinical trials. We will explore this concept for clinical oncology and clinical virology and show how software today automates the process from sample-to -answer.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar

Condie Carmack, PhD
Vice President of Precision Oncology, Vela Dx

Ahmed Mahmoud, PhD
Director of Scientific Support for Vela Diagnostics, Bi...
APR 13, 2017 9:00 AM PDT

Keynote Presentation - DNA Standards and Bioinformatics Benchmarks for Metagenomics

Christopher Mason, PhD

Associate Professor, Department of Physiology and Biophysics, WorldQuant (WQ) Scholar, Director, WQ Init. for Quantitative Prediction, Weill Cornell Medicine
BIOGRAPHY

Genomics and metagenomics have become ubiquitous research efforts. Here we will show details of the development of physical, computational, and even space-based standards for metagenomics, as part of the International Metagenomics and Microbiome Standards Alliance (IMMSA). Also, pilot data will be shown for enabling patients to become more involved in their ‘omics data, including an integrative genomics view of entire cities (based on our MetaSUB project) that leverages longitudinal metagenome and microbiome profiles of the world’s subway systems and cites, including the 2016 Rio Olympics. All of these methods and molecular tools work together to guide the most comprehensive, longitudinal, mutli-omic view of integrated genomics with the NASA Twins Study and new technologies to mine, engineer, and sequence DNA in for long-term human space travel.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 7:30 AM PDT

The Essential Role of the Molecular Identification of Microorganisms in the Management of Chronic Infections

Randall D. Wolcott, MD

Medical Director, Southwest Regional Wound Care Center
BIOGRAPHY

Microorganisms growing in biofilm phenotype are the cause of chronic infections. Several universal properties of biofilm communities are they are overwhelmingly polymicrobial, difficult to culture (viable but not culturable), and the individual constituents are very tolerant of antimicrobial agents, especially antibiotics. Just like in medical imaging utilizes multiple technological platforms such as ultrasound, magnetic resonance or x-ray, microbial identification requires multiple technologies and methods. However, when dealing with biofilm phenotype microorganisms, molecular methods are superior. Molecular methods have the ability to identify microorganisms with very high sensitivity, specificity and also can be quantitative. Utilizing a quantitative PCR methodology, specific targets can be identified as present/not present but also an absolute quantitative determination for each target present can be made. This allows for the determination of “bacterial load”. Sequencing platforms can reveal crucial relative quantification of the different microorganisms present, allowing for the determination of dominant microbes. Timely and accurate diagnostic information of microorganisms, which are the primary cause of the chronic infection, are essential for improving outcomes. PCR information can be returned rapidly, allowing the clinician to rule out antibiotic resistant microbes which allows for the selection of appropriate empiric antibiotics. Sequencing data, which returns several days later, allows for great sensitivity and specificity in the identification of microorganisms while also providing the information on what is dominant within the community. Antibiotic therapy can then be tailored to the chronic infection. Molecular diagnosis also provides a way to assess the efficacy of treatment. Chronic infections are more prevalent and costly than heart disease, cancer, diabetes or any other disease in our healthcare system. Molecular methods for identifying microorganisms provide a powerful diagnostic tool for the management of chronic infections.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 6:00 AM PDT

The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers

John A. Martignetti, MD, PhD

Icahn School of Medicine at Mount Sinai Departments of Genetics and Genomic Sciences, Pediatrics, Obstetrics/Gynecology & Reproductive Sciences and Oncological Sciences
BIOGRAPHY

Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival rates are dramatically improved. Despite this, no screening methods have been developed which can effectively detect either pre-malignant lesions or early-stage cancers. We conducted a prospective study to analyze the effectiveness of molecular analysis of uterine lavage fluid, taken at the time of evaluation for a definitive tissue-based diagnosis, to assess the use of targeted next generation sequencing (NGS) for detecting endometrial carcinomas. The women in this study were primarily either experiencing abnormal uterine bleeding or had abnormal pelvic ultrasound findings and were being evaluated by hysteroscopy and curettage for a tissue diagnosis. We detected somatic mutations in all women who were later diagnosed with endometrial cancer, even microscopic stage IA, grade 1. In addition, we also identified that half of the women in our study who did not have clinical evidence of cancer, nonetheless possessed a significant landscape of driver mutations. Our findings therefore suggest the apparently inimicable possibilities of a genomics- based approach for endometrial cancer screening and the discovery of prevalent driver mutations in clinically-defined non-cancerous tissue.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 1:30 PM PDT

Perspectives for Whole Cell Microbial Reference Materials

J. Russ Carmical, PhD

Sequencing Director/Director of Operations, Alkek Center for Metagenomics and Micobiome Research (CMMR) at Baylor College of Medicine and Director of Operation of Diversigen
BIOGRAPHY

With the exception of the Microbiome Quality Control (MBQC), very little has been published on best practices and reference standards for microbiome and metagenomic studies. As evidenced by recent publication trends, researchers are moving the field toward commercial development at a rapid pace. If these analyses are to ever evolve into reliable assays (e.g. for clinical diagnostics), the measurement process must be regularly assessed to ensure measurement quality. A key aspect of this validation is the routine analysis of reference materials as positive controls. A reference material (RM) is any stable, abundant, and well characterized specimen that is used to assess the quantitative and/or qualitative validity of a measurement process. The focus will be on the use of whole cell microbial reference materials to characterize metagenomic analyses from start to finish. We’ll discuss 3 key categories (environmental samples, in vitro models for microbial ecosystems, pure microbial isolates) of reference standards and the challenges in characterizing those standards.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 12:00 PM PDT

PAMA: The First Reporting Period is Over. What Does This Legislation Mean for Laboratorie

Roger D. Klein MD, JD, FCAP

Principal at Roger D. Klein, MD JD Consulting and Klein & Klein Co., L.P.A. Faculty Fellow at the Arizona State University Sandra Day O'Connor College of Law's Center for Law, Science &
BIOGRAPHY

This presentation describes the new process by which the Centers for Medicare and Medicaid Services (CMS) will establish the prices the Agency pays for clinical diagnostic laboratory tests. This revolutionary approach was
mandated by Congress in the clinical laboratory provisions contained within Section 216 of the Protecting Access to Medicare Act of 2014. In his talk Dr. Klein will discuss this legislation, accompanying CMS regulations, and their
potential impacts on the laboratory industry

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 10:30 AM PDT

Prediction of enzalutamide sensitivity in triple negative breast cancer

Joel Parker, PhD

Director, Bioinfomatics, Associate Professor, University of North Carolina, Chapel Hill
BIOGRAPHY
Sponsored By: NanoString Technologies

A recent clinical trial of the AR inhibitor enzalutamide in patients with TNBC included an exploratory endpoint using RNA sequencing to identify a genomic signature of patients likely to respond to treatment. Tumor samples were collected from all patients enrolled in the single-arm, open-label phase 2 trial. The primary endpoint was clinical benefit rate at 16 weeks (CBR16). Samples were assayed by whole transcriptome RNA-sequencing and divided into a training and blinded validation cohort for model development and evaluation. The gene expression model of enzalutamide sensitivity demonstrated strong association with progression free survival (HR = 0.40, Wald p = 0.0001). This signature is being used to select patients enrolling in a phase 3 trial of enzalutamide in patients with advanced TNBC. Biological associations and translation of the assay for clinical use will highlighted.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 9:00 AM PDT

Keynote Presentation - Assessing Risk in Cervical Cancer Screening Management: The Role of HPV Genotyping

Catherine Behrens, MD, PhD, FACOG

Consultant Senior Director, Clinical Research
BIOGRAPHY
Sponsored By: Roche Diagnostics

Screening for cervical cancer represents one of the greatest successes achieved in disease prevention. Cytology has been central to cervical cancer screening programs for over 50 years and has contributed to the 70% decline in rates of cervical cancer in the developed world.³ By the 1990’s, HPV was recognized as a single, necessary cause of cancer of the cervix that was detected in 99.7% of cases of cervical cancer.⁴ Therefore, tests that detect infection with these high-risk HPV genotypes are now being used increasingly in cervical cancer screening programs. The 2007 Consensus Guidelines for the Management of Women with Abnormal Cervical Cancer Screening Tests⁶ recognized the utility of using a combination of cervical cytology, tests for HPV, and genotype-specific HPV testing for women undergoing screening for cervical cancer. These guidelines were subsequently revised and now recommend the combination of cytology and HR HPV testing (cotesting) as the preferred method of screening in women ≥30 years, with HPV 16/18 genotype–specific testing an added option to triage women with negative cytology to colposcopy.⁷ Most recently, the FDA approved the use of the cobas HPV Test as the first-line primary screen and interim guidance for this screening strategy has been issued and supported by 3 professional societies.

The numerous guideline changes have presented challenges to both laboratories and clinicians. For laboratories, decisions needed to be made regarding which HPV assay to run and how to re-organize resources and workflow to accommodate changing guidelines. For clinicians, choosing the optimal screening strategy and then understanding how to manage the results has become a difficult task.

Today we will try to simplify approaches to cervical cancer screening and management by reviewing the role of HPV genotyping in risk management. Cytology and HPV genotyping results can be used to quantify risks so that we can identify women at the highest risk of having or developing cervical disease and conversely, to identify women at the lowest risk. By utilizing this risk assessment approach, laboratorians and clinicians will better be able to choose the most efficient screening methodology and also more easily manage results that are often confounding and confusing.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 7:30 AM PDT

Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps

Robert L. Nussbaum MD, FACP, FACMG

Chief Medical Officer, Invitae
BIOGRAPHY

As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence between individuals has become more and more apparent. This diversity is not only seen in single nucleotide variants but also deletions/duplications, insertions/deletions, and copy number variants. Sorting the wheat from the chaff when performing molecular diagnostics of single-gene (Mendelian) disorders such as Hereditary Breast and Ovarian Cancer, Hypertrophic Cardiomyopathy, Hereditary Spastic Paraplegia, Cystic Fibrosis, is an enormous challenge because very serious medical decision making rests on a correct interpretation of the clinical meaning of variants, both in affected individuals and when sequencing is used for screening purposes. The American College of Medical Genetics and the Association of Molecukar Pathologists took a first major step when they proposed that variant interpretations fall into one of five classes: Benign, Likely Benign, Likely Pathogenic, Pathogenic, and Variant of Uncertain Significance (VUS). The also proposed a set of criteria to apply to guide the placement of any variant into on of these buckets. This proposal has improved the rigor and reproducibility of variant interpretation but much remains to be done to make variant interpretation more accurate and scalable if we are to deploy genomics more widely in medicine.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 6:00 AM PDT

Standards for Microbiome and Metagenomics: Supporting the Commercial Translation of Microbiome Science

Jason Kralj, PhD

Leader of the Metagenomic Pathogen Detection Program, National Institute of Standards and Technology
BIOGRAPHY

In spite of the huge potential impact of microbiome science, current measurement capabilities are insufficient, particularly for translating discoveries and correlations observed in the lab into commercially viable products and services that improve our quality of life. Data are difficult to compare between experimenters, laboratories, or institutions. Emerging capabilities (e.g., next generation sequencing, metabolomics) are new and not fully characterized for microbiome investigations. Reference samples (i.e., for calibration or quality control) that mimic the complexity of naturally occurring communities are not available. Bioinformatic analysis packages and reference databases remain incomplete. At NIST, we are improving microbiome science and supporting the National Microbiome Initiative by developing standards for microbiome measurements that will enable federal, academic, and industry labs to reliably reproduce and advance each other's results. Microbiome standards will support research investigations and commercial translation of microbiome science by providing measurement assurance tools: standardized protocols, reference materials, validated measurements and critically evaluated reference data.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar

Microbiome Standards related to Diagnostics
APR 12, 2017 6:00 AM PDT

Standards for Microbiome and Metagenomics: Supporting the Commercial Translation of Microbiome Science

Jason Kralj, PhD

Leader of the Metagenomic Pathogen Detection Program, National Institute of Standards and Technology
BIOGRAPHY

In spite of the huge potential impact of microbiome science, current measurement capabilities are insufficient, particularly for translating discoveries and correlations observed in the lab into commercially viable products and services that improve our quality of life. Data are difficult to compare between experimenters, laboratories, or institutions. Emerging capabilities (e.g., next generation sequencing, metabolomics) are new and not fully characterized for microbiome investigations. Reference samples (i.e., for calibration or quality control) that mimic the complexity of naturally occurring communities are not available. Bioinformatic analysis packages and reference databases remain incomplete. At NIST, we are improving microbiome science and supporting the National Microbiome Initiative by developing standards for microbiome measurements that will enable federal, academic, and industry labs to reliably reproduce and advance each other's results. Microbiome standards will support research investigations and commercial translation of microbiome science by providing measurement assurance tools: standardized protocols, reference materials, validated measurements and critically evaluated reference data.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 1:30 PM PDT

Perspectives for Whole Cell Microbial Reference Materials

J. Russ Carmical, PhD

Sequencing Director/Director of Operations, Alkek Center for Metagenomics and Micobiome Research (CMMR) at Baylor College of Medicine and Director of Operation of Diversigen
BIOGRAPHY

With the exception of the Microbiome Quality Control (MBQC), very little has been published on best practices and reference standards for microbiome and metagenomic studies. As evidenced by recent publication trends, researchers are moving the field toward commercial development at a rapid pace. If these analyses are to ever evolve into reliable assays (e.g. for clinical diagnostics), the measurement process must be regularly assessed to ensure measurement quality. A key aspect of this validation is the routine analysis of reference materials as positive controls. A reference material (RM) is any stable, abundant, and well characterized specimen that is used to assess the quantitative and/or qualitative validity of a measurement process. The focus will be on the use of whole cell microbial reference materials to characterize metagenomic analyses from start to finish. We’ll discuss 3 key categories (environmental samples, in vitro models for microbial ecosystems, pure microbial isolates) of reference standards and the challenges in characterizing those standards.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 9:00 AM PDT

Keynote Presentation - DNA Standards and Bioinformatics Benchmarks for Metagenomics

Christopher Mason, PhD

Associate Professor, Department of Physiology and Biophysics, WorldQuant (WQ) Scholar, Director, WQ Init. for Quantitative Prediction, Weill Cornell Medicine
BIOGRAPHY

Genomics and metagenomics have become ubiquitous research efforts. Here we will show details of the development of physical, computational, and even space-based standards for metagenomics, as part of the International Metagenomics and Microbiome Standards Alliance (IMMSA). Also, pilot data will be shown for enabling patients to become more involved in their ‘omics data, including an integrative genomics view of entire cities (based on our MetaSUB project) that leverages longitudinal metagenome and microbiome profiles of the world’s subway systems and cites, including the 2016 Rio Olympics. All of these methods and molecular tools work together to guide the most comprehensive, longitudinal, mutli-omic view of integrated genomics with the NASA Twins Study and new technologies to mine, engineer, and sequence DNA in for long-term human space travel.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
Diseases and Disorders
APR 12, 2017 7:30 AM PDT

Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps

Robert L. Nussbaum MD, FACP, FACMG

Chief Medical Officer, Invitae
BIOGRAPHY

As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence between individuals has become more and more apparent. This diversity is not only seen in single nucleotide variants but also deletions/duplications, insertions/deletions, and copy number variants. Sorting the wheat from the chaff when performing molecular diagnostics of single-gene (Mendelian) disorders such as Hereditary Breast and Ovarian Cancer, Hypertrophic Cardiomyopathy, Hereditary Spastic Paraplegia, Cystic Fibrosis, is an enormous challenge because very serious medical decision making rests on a correct interpretation of the clinical meaning of variants, both in affected individuals and when sequencing is used for screening purposes. The American College of Medical Genetics and the Association of Molecukar Pathologists took a first major step when they proposed that variant interpretations fall into one of five classes: Benign, Likely Benign, Likely Pathogenic, Pathogenic, and Variant of Uncertain Significance (VUS). The also proposed a set of criteria to apply to guide the placement of any variant into on of these buckets. This proposal has improved the rigor and reproducibility of variant interpretation but much remains to be done to make variant interpretation more accurate and scalable if we are to deploy genomics more widely in medicine.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 12:00 PM PDT

Lyme Disease, Molecular Diagnostics, and Detection of New Causative Agents

Bobbi Pritt, MD

Pathologist, Laboratory Medicine and Pathology, Mayo Clinic
BIOGRAPHY

Lyme disease is a common tick-transmitted infection caused by spirochetes in the Borrelia burgdorferi sensu lato complex. Borrelia burgdorferi is the primary cause of Lyme disease in the United States, while B. burgdorferi, B. garinii and B. afzelii cause Lyme disease in Europe. Although Lyme disease is primarily diagnosed using clinical and serologic criteria, molecular testing may play an important adjunctive role in detection and have contributed greatly to our knowledge of Lyme disease epidemiology. Molecular tests also increase our ability to detect the presence of co-infecting organisms and allow for detection of previously unknown organisms, such as Borrelia mayonii. This presentation will provide an overview of the available molecular methods for diagnosing Lyme disease and discuss future applications of these technologies.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 1:30 PM PDT

Ultra-sensitive single-molecule array (Simoa) technology to revolutionize CNS biomarkers

Andreas Jeromin, PhD

Chief Medical Officer (consulting), Quanterix Corp
BIOGRAPHY

The presentation will describe the principles of the ultra-sensitive single-molecule array (Simoa) developed by Quanterix and the application of the Simoa technology to the development of a toolbox of CNS biomarkers. The presentation will include several case studies across CNS diseases, ranging from traumatic brain injury to Alzheimer's Disease

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
Oncology
APR 12, 2017 9:00 AM PDT

Keynote Presentation - Assessing Risk in Cervical Cancer Screening Management: The Role of HPV Genotyping

Catherine Behrens, MD, PhD, FACOG

Consultant Senior Director, Clinical Research
BIOGRAPHY
Sponsored By: Roche Diagnostics

Screening for cervical cancer represents one of the greatest successes achieved in disease prevention. Cytology has been central to cervical cancer screening programs for over 50 years and has contributed to the 70% decline in rates of cervical cancer in the developed world.³ By the 1990’s, HPV was recognized as a single, necessary cause of cancer of the cervix that was detected in 99.7% of cases of cervical cancer.⁴ Therefore, tests that detect infection with these high-risk HPV genotypes are now being used increasingly in cervical cancer screening programs. The 2007 Consensus Guidelines for the Management of Women with Abnormal Cervical Cancer Screening Tests⁶ recognized the utility of using a combination of cervical cytology, tests for HPV, and genotype-specific HPV testing for women undergoing screening for cervical cancer. These guidelines were subsequently revised and now recommend the combination of cytology and HR HPV testing (cotesting) as the preferred method of screening in women ≥30 years, with HPV 16/18 genotype–specific testing an added option to triage women with negative cytology to colposcopy.⁷ Most recently, the FDA approved the use of the cobas HPV Test as the first-line primary screen and interim guidance for this screening strategy has been issued and supported by 3 professional societies.

The numerous guideline changes have presented challenges to both laboratories and clinicians. For laboratories, decisions needed to be made regarding which HPV assay to run and how to re-organize resources and workflow to accommodate changing guidelines. For clinicians, choosing the optimal screening strategy and then understanding how to manage the results has become a difficult task.

Today we will try to simplify approaches to cervical cancer screening and management by reviewing the role of HPV genotyping in risk management. Cytology and HPV genotyping results can be used to quantify risks so that we can identify women at the highest risk of having or developing cervical disease and conversely, to identify women at the lowest risk. By utilizing this risk assessment approach, laboratorians and clinicians will better be able to choose the most efficient screening methodology and also more easily manage results that are often confounding and confusing.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 12, 2017 10:30 AM PDT

Prediction of enzalutamide sensitivity in triple negative breast cancer

Joel Parker, PhD

Director, Bioinfomatics, Associate Professor, University of North Carolina, Chapel Hill
BIOGRAPHY
Sponsored By: NanoString Technologies

A recent clinical trial of the AR inhibitor enzalutamide in patients with TNBC included an exploratory endpoint using RNA sequencing to identify a genomic signature of patients likely to respond to treatment. Tumor samples were collected from all patients enrolled in the single-arm, open-label phase 2 trial. The primary endpoint was clinical benefit rate at 16 weeks (CBR16). Samples were assayed by whole transcriptome RNA-sequencing and divided into a training and blinded validation cohort for model development and evaluation. The gene expression model of enzalutamide sensitivity demonstrated strong association with progression free survival (HR = 0.40, Wald p = 0.0001). This signature is being used to select patients enrolling in a phase 3 trial of enzalutamide in patients with advanced TNBC. Biological associations and translation of the assay for clinical use will highlighted.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 6:00 AM PDT

The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers

John A. Martignetti, MD, PhD

Icahn School of Medicine at Mount Sinai Departments of Genetics and Genomic Sciences, Pediatrics, Obstetrics/Gynecology & Reproductive Sciences and Oncological Sciences
BIOGRAPHY

Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival rates are dramatically improved. Despite this, no screening methods have been developed which can effectively detect either pre-malignant lesions or early-stage cancers. We conducted a prospective study to analyze the effectiveness of molecular analysis of uterine lavage fluid, taken at the time of evaluation for a definitive tissue-based diagnosis, to assess the use of targeted next generation sequencing (NGS) for detecting endometrial carcinomas. The women in this study were primarily either experiencing abnormal uterine bleeding or had abnormal pelvic ultrasound findings and were being evaluated by hysteroscopy and curettage for a tissue diagnosis. We detected somatic mutations in all women who were later diagnosed with endometrial cancer, even microscopic stage IA, grade 1. In addition, we also identified that half of the women in our study who did not have clinical evidence of cancer, nonetheless possessed a significant landscape of driver mutations. Our findings therefore suggest the apparently inimicable possibilities of a genomics- based approach for endometrial cancer screening and the discovery of prevalent driver mutations in clinically-defined non-cancerous tissue.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
APR 13, 2017 10:30 AM PDT

Why Variants Matter: NGS Bioinformatics Simplified for Oncology & Virology

Sponsored By: Vela Diagnostics

Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies perfectly matched to the situation. However, adoption of this technology in the clinic has been slower than expected due to various factors including ease-of-use, expense, footprint, and data complexity. Today many of these hurdles have been overcome as NGS workflows have become increasingly automated, smaller, and less expensive. For many in the clinic, the key to making this technology more accessible is automated bioinformatics that supports clinical decision-making.

In this presentation we will delve into the sequencing world from the perspective of the variant. We’ll uncover how today’s sophisticated bioinformatics engines can take raw sequencing data and transform the results into accurate and actionable reports that point to therapies and clinical trials. We will explore this concept for clinical oncology and clinical virology and show how software today automates the process from sample-to -answer.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar

Condie Carmack, PhD
Vice President of Precision Oncology, Vela Dx

Ahmed Mahmoud, PhD
Director of Scientific Support for Vela Diagnostics, Bi...
Regulatory Landscape
APR 12, 2017 12:00 PM PDT

PAMA: The First Reporting Period is Over. What Does This Legislation Mean for Laboratorie

Roger D. Klein MD, JD, FCAP

Principal at Roger D. Klein, MD JD Consulting and Klein & Klein Co., L.P.A. Faculty Fellow at the Arizona State University Sandra Day O'Connor College of Law's Center for Law, Science &
BIOGRAPHY

This presentation describes the new process by which the Centers for Medicare and Medicaid Services (CMS) will establish the prices the Agency pays for clinical diagnostic laboratory tests. This revolutionary approach was
mandated by Congress in the clinical laboratory provisions contained within Section 216 of the Protecting Access to Medicare Act of 2014. In his talk Dr. Klein will discuss this legislation, accompanying CMS regulations, and their
potential impacts on the laboratory industry

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
Pursue Microbiome Testing as a Companion Diagnostic
APR 13, 2017 7:30 AM PDT

The Essential Role of the Molecular Identification of Microorganisms in the Management of Chronic Infections

Randall D. Wolcott, MD

Medical Director, Southwest Regional Wound Care Center
BIOGRAPHY

Microorganisms growing in biofilm phenotype are the cause of chronic infections. Several universal properties of biofilm communities are they are overwhelmingly polymicrobial, difficult to culture (viable but not culturable), and the individual constituents are very tolerant of antimicrobial agents, especially antibiotics. Just like in medical imaging utilizes multiple technological platforms such as ultrasound, magnetic resonance or x-ray, microbial identification requires multiple technologies and methods. However, when dealing with biofilm phenotype microorganisms, molecular methods are superior. Molecular methods have the ability to identify microorganisms with very high sensitivity, specificity and also can be quantitative. Utilizing a quantitative PCR methodology, specific targets can be identified as present/not present but also an absolute quantitative determination for each target present can be made. This allows for the determination of “bacterial load”. Sequencing platforms can reveal crucial relative quantification of the different microorganisms present, allowing for the determination of dominant microbes. Timely and accurate diagnostic information of microorganisms, which are the primary cause of the chronic infection, are essential for improving outcomes. PCR information can be returned rapidly, allowing the clinician to rule out antibiotic resistant microbes which allows for the selection of appropriate empiric antibiotics. Sequencing data, which returns several days later, allows for great sensitivity and specificity in the identification of microorganisms while also providing the information on what is dominant within the community. Antibiotic therapy can then be tailored to the chronic infection. Molecular diagnosis also provides a way to assess the efficacy of treatment. Chronic infections are more prevalent and costly than heart disease, cancer, diabetes or any other disease in our healthcare system. Molecular methods for identifying microorganisms provide a powerful diagnostic tool for the management of chronic infections.

SEE ABSTRACT HIDE ABSTRACT

Watch Webinar
Liquid Biopsies
APR 13, 2017 1:30 PM PDT

Title coming soon

Gabriel Otte, PhD

Founder, Chief Executive Officer, and Director, Freenome Ltd

Read More

APR 12 - 13 2017

Molecular Diagnostics Virtual Event Series 2017

This event is now apart of the Genetics Week Virtual Event Series.

The 2nd Annual Event in the Molecular Diagnostics Virtual Event Series is now available On Demand! This conference is a premiere venue for scientists, technologists, and professionals to discuss and present the newest advances in molecular diagnostics testing. Attend this online event ondemand at no charge.

Join LabRoots in bringing together the Molecular Diagnostics community. Attend webcasts with top experts and interact with speakers during the live Q&A sessions. Earn continuing education credits and network with peers. Enjoy the complementary conference from your desk with no need for travel, and explore the virtual exhibit hall to learn about the latest technologies and techniques for your lab.

Topics discussed at this years event included:

Pursue Microbiome Testing as a Companion Diagnostic
Diseases and Disorders
Immunotherapy
Regulatory Landscape
Microbiome Standards related to Diagnostics
Liquid Biopsies

Our virtual conference allows you to participate in a global setting with no travel or cost to you. You can participate in exactly those parts which you are interested in and be back at your desk or bench in an instant. Virtual events remove time and place restrictions and ensure that everyone who wants to participate can do so. This virtual conference also offers increased reach for the global diagnostics community with a high degree of interaction through live-streaming video and chat sessions.

Continuing Education
By participating in this virtual event and watching webcast presentations, you can earn Free Continuing Education (CE) and/or Continuing Medical Education (CME) credits. To earn educational credits, you must view an entire presentation. Following the presentation you must click on the educational credit link provided for that particular speaker and follow the required process. Once you have completed the process, you will receive a certificate for the educational credit.

Use #LRmoldx to follow the conversation

Speakers

Robert L. Nussbaum MD, FACP, FACMG

Chief Medical Officer, Invitae
BIOGRAPHY
Christopher Mason, PhD

Associate Professor, Department of Physiology and Biophysics, WorldQuant (WQ) Scholar, Director, WQ Init. for Quantitative Prediction, Weill Cornell Medicine
BIOGRAPHY
Catherine Behrens, MD, PhD, FACOG

Consultant Senior Director, Clinical Research
BIOGRAPHY
Condie Carmack, PhD

Vice President of Precision Oncology, Vela Dx
BIOGRAPHY
J. Russ Carmical, PhD

Sequencing Director/Director of Operations, Alkek Center for Metagenomics and Micobiome Research (CMMR) at Baylor College of Medicine and Director of Operation of Diversigen
BIOGRAPHY
Scott Jackson, PhD

Group Leader - Complex Microbial Systems, NIST
BIOGRAPHY
Andreas Jeromin, PhD

Chief Medical Officer (consulting), Quanterix Corp
BIOGRAPHY
Roger D. Klein MD, JD, FCAP

Principal at Roger D. Klein, MD JD Consulting and Klein & Klein Co., L.P.A. Faculty Fellow at the Arizona State University Sandra Day O'Connor College of Law's Center for Law, Science &
BIOGRAPHY
Jason Kralj, PhD

Leader of the Metagenomic Pathogen Detection Program, National Institute of Standards and Technology
BIOGRAPHY
Ahmed Mahmoud, PhD

Director of Scientific Support for Vela Diagnostics, Bioinformatics Applications scientist
BIOGRAPHY
John A. Martignetti, MD, PhD

Icahn School of Medicine at Mount Sinai Departments of Genetics and Genomic Sciences, Pediatrics, Obstetrics/Gynecology & Reproductive Sciences and Oncological Sciences
BIOGRAPHY
Joel Parker, PhD

Director, Bioinfomatics, Associate Professor, University of North Carolina, Chapel Hill
BIOGRAPHY
Bobbi Pritt, MD

Pathologist, Laboratory Medicine and Pathology, Mayo Clinic
BIOGRAPHY
Randall D. Wolcott, MD

Medical Director, Southwest Regional Wound Care Center
BIOGRAPHY

Speakers Share

Robert L. Nussbaum MD, FACP, FACMG

Chief Medical Officer, Invitae

BIOGRAPHY
Christopher Mason, PhD

Associate Professor, Department of Physiology and Biophysics, WorldQuant (WQ) Scholar, Director, WQ Init. for Quantitative Prediction, Weill Cornell Medicine

BIOGRAPHY
Catherine Behrens, MD, PhD, FACOG

Consultant Senior Director, Clinical Research

BIOGRAPHY
Condie Carmack, PhD

Vice President of Precision Oncology, Vela Dx

BIOGRAPHY
J. Russ Carmical, PhD

Sequencing Director/Director of Operations, Alkek Center for Metagenomics and Micobiome Research (CMMR) at Baylor College of Medicine and Director of Operation of Diversigen

BIOGRAPHY
Scott Jackson, PhD

Group Leader - Complex Microbial Systems, NIST

BIOGRAPHY
Andreas Jeromin, PhD

Chief Medical Officer (consulting), Quanterix Corp

BIOGRAPHY
Roger D. Klein MD, JD, FCAP

Principal at Roger D. Klein, MD JD Consulting and Klein & Klein Co., L.P.A. Faculty Fellow at the Arizona State University Sandra Day O'Connor College of Law's Center for Law, Science &

BIOGRAPHY
Jason Kralj, PhD

Leader of the Metagenomic Pathogen Detection Program, National Institute of Standards and Technology

BIOGRAPHY
Ahmed Mahmoud, PhD

Director of Scientific Support for Vela Diagnostics, Bioinformatics Applications scientist

BIOGRAPHY
John A. Martignetti, MD, PhD

Icahn School of Medicine at Mount Sinai Departments of Genetics and Genomic Sciences, Pediatrics, Obstetrics/Gynecology & Reproductive Sciences and Oncological Sciences

BIOGRAPHY
Joel Parker, PhD

Director, Bioinfomatics, Associate Professor, University of North Carolina, Chapel Hill

BIOGRAPHY
Bobbi Pritt, MD

Pathologist, Laboratory Medicine and Pathology, Mayo Clinic

BIOGRAPHY
Randall D. Wolcott, MD

Medical Director, Southwest Regional Wound Care Center

BIOGRAPHY

Sponsors & Partners Share

For information on becoming a sponsor or exhibitor, please click here.

Roche Diagnostics

Roche Diagnostics develops and produces medical tests and digital tools that provide information to help healthcare professionals find the right treatment for patients and deliver the best patient care to improve, prolong and save lives. Currently, Roche Diagnostics leads the ...
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ATCC

ATCC is the premier global biological materials resource and standards organization whose mission focuses on the acquisition, authentication, production, preservation, development, and distribution of standard reference microorganisms, cell lines, and other materials. While ...
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NanoString Technologies

NanoString Technologies (NASDAQ: NSTG) is a publicly held provider of life science tools for translational research and molecular diagnostics. The company's technology enables a wide variety of basic research, translational medicine and in vitro diagnostics applications ...
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QIAGEN Molecular Diagnostics

QIAGEN N.V., a Netherlands holding company, is the leading global provider of Sample & Assay Technologies that are used to transform biological materials into valuable molecular information. Sample technologies are used to isolate and process DNA, RNA and proteins from biological ...
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Vela Diagnostics

Vela Diagnostics is a worldwide supplier of integrated life sciences and diagnostic solutions that help provide customers with valuable molecular information. From scientists striving to make research advances to technicians reporting the information necessary to identify ...
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Helmer

Helmer Scientific is an established, entrepreneurial, growth company headquartered in Noblesville, Indiana. We design, integrate, manufacture, market, and distribute specialized medical and laboratory equipment to clinical and life science customers in over 125 countries.
Abcam

As an innovator in reagents and tools, our purpose is to serve life science researchers globally to achieve their mission, faster. Providing the research and clinical communities with tools and scientific support, we offer highly validated biological binders and assays to address ...
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Cosmo Bio USA

Great Reagents Drive Great Research.. and Assay Development •• Who We Are •• Cosmo Bio USA, located in Carlsbad, California is North America's source for the thousands of high performance reagents and biotools for life science research exported from Japan by our parent ...
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Illumina

Illumina is a leading developer, manufacturer, and marketer of life science tools and integrated systems dedicated to making genomics useful for all. Innovating at the intersection of technology, biology, and health, we are reimagining what's possible for human health and the ...
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Cofactor Genomics

Cofactor is a next-generation genomics company. Working with the largest life-science and pharmaceutical companies in the world, we've developed cutting-edge, streamlined, and scalable protocols to interrogate RNA. Whether you require delivery of FASTQ files or full ...
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Labroots

Labroots is the leading scientific social networking website and producer of educational virtual events and webinars. Contributing to the advancement of science through content sharing capabilities, Labroots is a powerful advocate in amplifying global networks and communities.
AllSeq

AllSeq has created the world's first Sequencing Marketplace, which offers competitive bids on sequencing projects from our global network of service providers. Our online forms help guide you to create an accurate description of your sequencing project, ensuring that you receive ...
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Arena International

Each year, over 10,000 business executives from Fortune 1000 companies attend over 80 Arena International events worldwide, addressed by over 1700 industry leaders delivering leading edge content and discussion. We have a large portfolio of established, annual events - many of ...
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Conference Series

Conference series welcome to the world largest gathering of the 10th International Conference on Endocrinology will explore on Upswings in the ideas of Endocrinology Management by bringing the international academics, practitioners, and experts together in Chicago, USA from ...
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GotScience

Delivering comprehensible science to the public-for free.
ManuscriptEdit

Manuscriptedit specializes in providing services in Scientific & English editing, proofreading, medical writing, academic writing, formatting and publication support. Within a short span of time, the company has grown rapidly to be counted among the world's leading service ...
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Event Series

May 14, 2025 6:00 am Pacific Time

Program Committee Share

To download the Program Committee brochure here.

Bryan Cobb

Dr. Cobb is the acting Director for Clinical Molecular Diagnostics at Roche Diagnostics Corporation where he serves in a scientific advisory role supporting the laboratory scientific community. He obtained his Ph.D. in Medical Genetics at the University of Alabama at Birmingham ...
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Shawn Baker

Dr. Shawn C. Baker is the Chief Science Officer and co-founder of AllSeq. Having received his Ph.D. at the University of California - Davis, he started his career as a Research Scientist at Illumina when it was a 15-person startup. After spending several years at the bench ...
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Judd Moul

Judd W. Moul is James H. Semans, MD Professor of Surgery, Division of Urologic Surgery, and Director of the Duke Prostate Center, Duke Cancer Institute at Duke University Medical Center. Prior to joining Duke, he was Professor of Surgery at the Uniformed Services University of ...
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Emily Hollister

Emily Hollister is the Director, R&D, Computational Biology for Diversigen. An accomplished microbial ecologist, her microbiome experience ranges from soils and biofuel production systems to the human microbiome and pre-clinical disease models. She leads a team of ...
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