Speaker: Professor Dennis Lo, M.D., Ph.D, Director, Li Ka Shing Inst. of HS, Chinese Uni. of HK

Noninvasive prenatal testing (NIPT) using fetal DNA in maternal plasma has created a paradigm shift in prenatal medicine. We have developed a new approach that is based on size profiling of plasma DNA molecules, which can be used for detecting a spectrum of fetal chromosomal aberrations. Used in conjunction with the already commercialized count-based approaches, one could further enhance the accuracy of NIPT. Furthermore, we have shown that the fetal genome, methylome and transcriptome can be sequenced from maternal plasma. Hence, the role of NIPT as a research and clinical toolis likely to further increase in the coming years.

Speaker: Nicholas Dracopoli, Ph.D., Vice President, Janssen R&D

Cancer is a highly dynamic and heterogeneous disease. As cancer progresses, tumors develops a broad range of genomic abnormalities as they lose their capability for DNA repair, to initiate apoptosis and other hallmarks of advanced cancer. These genomic changes are responsible for the divergent response to therapy and emphasize the need for non-invasive, real-time monitoring of the cancer genome to optimize treatment outcome for patients. This presentation will describe opportunities for the comprehensive analyses of circulating tumor cells (CTC) to monitor changes in the cancer genome and to individualize therapy according to the molecular changes in each patient’s tumor.

Speaker: Albert Crescenzo, Ph.D., Principal Solution Scientist, Precision Medicine, Thomson Reuters

As volumes of Omics data increase organizations are faced with the task of extracting insights. The Clinical Genomics Toolkit, a manually curated information and analytics resource, supports users in the annotation and interpretation of genomic variants, identification of marketed and under-development therapies, associated clinical trials and relevant biological pathways. Currently accessible through the GenoSpace Fullview Molecular Medicine Platform, this presentation will explore how access to high quality, integrated content and analytics through a powerful platform for diagnostic report creation can enhance precision in genomic interpretation.

Speaker: Patrick (Pat) Roche, Ph.D., Senior Vice President for Research and Development, HTG Molecular Diagnostics

We have developed a novel automated technology platform that allows for accurate, efficient molecular profiling of samples for clinical and research purposes. The platform has the flexibility to work with many different biological specimens without the need for extraction, is able to provide results from very small samples (e.g. FNA, needle core biopsy), and employs a very simple proprietary chemistry. Many of the steps associated with traditional molecular techniques are bypassed. This application enables the profiling of multiple parameters such as gene rearrangements and gene expression in a single NGS-based testing workflow.

Speaker: Michael Ball, CEO, GenoLogics

In the last few years we've seen the growing application of NGS technologies to clinical testing, from new capabilities, such as rapid whole-genome tumor profiling, to the replacement of traditional methods with NGS based tests for prenatal screening.While these clinical applications serve differing patient populations with differing risk profiles, the challenges associated with implementing this new and evolving technology in clinical practice remain similar. This presentation focuses on what we know from serving clinical laboratories implementing informatics to support NGS. Specifically, we discuss how labs can impact the success of their NGS services by introducing solutions that can manage the evolving nature of NGS and support regulatory compliance required for clinical applications.

Speaker: Neil Barth, M.D., Chief Medical Officer, Agendia

Gene profiling of early stage breast cancers has become more common place. The emergence of this technology for improving selection of patients for therapy is challenging the paradigm of IHC/FISH based clinical subtypes. Functional molecular subtyping reclassifies approximately one third of all early sage breast cancer patients and more accurately assigns them to more (basal-like) or less (luminal-like) chemotherapy sensitive categories. This has significant implications for neo-adjuvant treatment selection.

Speaker: Mark Erlander, Ph.D., CSO, Trovagene

Quantitative circulating tumor DNA (ctDNA) detection methodologies enable highly sensitive detection and monitoring of oncogenic mutations in cancer patients. The Trovagene Precision Cancer MonitoringSM (PCM) platform utilizes mutant DNA enrichment and small footprint assay techniques for the quantification of oncogenic ctDNA in urine and plasma at a single mutant copy detection level. Clinical utility of the Trovagene PCM platform is supported by both completed and ongoing studies that demonstrate correlation of urinary and plasma ctDNA levels with tumor burden, response to therapy, disease progression, and monitoring of minimal residual disease. This technology can provide an improved, non-invasive way of managing cancer throughout the course of disease.

Speaker: Vince Ramey, Ph.D., Senior Scientist, DNAnexus

Non-invasive prenatal testing is leading the charge of next-generation sequencing into the clinic. Like all NGS-based clinical tests, there are complex data processing, storage, and locality needs. While the opportunity to identify prenatal genetic disorders is advancing, scientists are faced with technical and operational challenges such as scaling volume rapidly and predictably, and the ability to provide testing globally. Vince Ramey will present a case study of a global prenatal test delivery system using the DNAnexus cloud-based bioinformatics platform.

Speaker: Jason D. Merker, M.D., Ph.D., Assistant Professor of Pathology, Stanford University School of Medicine

Genome sequencing is being increasingly applied in clinical practice for the diagnosis of unexplained heritable disease. I will describe our experience establishing a clinical genomics service at an academic medical center. I will then discuss our initial efforts to use genome sequencing to identify the molecular etiology in patients with unexplained pediatric syndromes, heritable cardiovascular disease,heritable cancer predisposition, and heritable drug reactions or sensitivities.

Speaker: Dan Rhodes, Ph.D., Head of Oncology Strategy, Thermo Fisher Scientific

There is significant interest from pharmaceutical and regulatory communities, alike, for the development toward a multi-marker companion diagnostic product to support the increasing number of potential targeted therapeutic candidates that may address small cancer sub-populations. Traditionally, pharmaceutical and diagnostic development partners have designed individual companion diagnostic products for each therapeutic candidate, however this has proven costly, time-consuming and is increasingly impractical in the marketplace as the number of targeted therapies and individual companion tests grow. To aid in addressing these challenges, we developed the Oncomine® Cancer Research Panel*, an NGS panel targeting 143 genes, capable of accurately detecting the majority of genetic biomarkers associated with on market therapies and investigational-targeted therapies. Classes of genetic alterations detected include mutations, copy number variants, indels, and gene fusions. Retrospective and prospective research studies demonstrating the value of the panel will be described. In addition, our efforts to partner with the pharmaceutical community to help design clinical trial strategies supporting multiple drug candidates will be discussed. *For Research Use Only. Not for use in diagnostic procedures.

Speaker: Susan Gross, M.D., Chief Medical Officer, Natera

The introduction of noninvasive prenatal testing (NIPT) had been a seminal event in the history of Obstetrical care and prenatal screening due to vastly superior performance when compared to traditional screening methodologies. Using SNP signature patterns, identification and discrimination between maternal DNA and fetal/placental DNA is now possible, thereby significantly enhancing the safety profile of NIPT particularly in the low risk population.

Speaker: Christopher Jowett, Medical Technology Global Commercial Head CDx, Abbott Molecular

Companion diagnostic development has increased significantly generating more than ninety publically announced agreements in the past three years. If only fifty percent of these programs are successful, more than forty five newly approved CDx assays, representing more than twenty new biomarker platform combinations will reach the market by 2018, significantly increasing CDx testing complexity.Consensus around biomarker analytical performance as well as access to specimens with therapeutic outcome would enable harmonization of assay development and results across testing platforms. Potential solutions will be reviewed.

Speaker: Yusuke Tsukahara, Ph.D., President & CEO, Riken Genesis

BioBank Japan and Tohoku Medical MegaBank are the largest DNA banks in Japan supported by the governmental funding in science. Beside these scientific studies, today there are growing number of medical institutions, clinics, IT companies, electronics giants, and startups which are struggling to launch the personal genome in Japan. People are getting aware of the personal genome as well. I will show you some examples that I am involved with, and discuss about the challenges related to the acceptance by the society, the medical system, and the national health insurance system.

Speaker: Murali Prahalad, Ph.D., President & CEO, Epic Sciences

For many years, the potential of circulating tumor cells (CTCs) as biomarkers in the emerging spectrum of liquid biopsy tools has been appreciated. However the CTC field has only recently begun to live up to its promise with the advent of second generation technologies like Epic Sciences’ “No Cell Left Behind” approach. Data will be shared demonstrating that CTCs are truly ready for prime time and can serve as powerful tools in settings ranging from clinical trials to therapy selection and resistance monitoring.

Speaker: Giulia C. Kennedy, Ph.D., CSO, SVP of Research, Product, and Clinical Development, Veracyte

The diagnosis of a complex disease rarely presents itself in a vacuum. The patient comes to a place in the clinical workflow after a journey, often referred to as “The Diagnostic Odyssey”. Biopsies and clinical information enter that workflow at different places, with high-dimensional genomic information often being collected on these precious samples. How do we incorporate “the backstory” embedded in this workflow into meaningful diagnostic algorithms that are appropriate to that particular phase in the patient's quest for a diagnosis? An example derived from thyroid nodule diagnosis will be used as illustration of how different clinical and genomic data are called into play at specific times to resolve ambiguity and improve patient care.

Speaker: Shawn M. Marcell, President & Chief Executive Officer, Metamark Genetics

Quantitative multiplex immunofluorescence (QMIF) image analysis has become a powerful research tool for disease outcome prediction. This approach can be fully automated and reproducibletoaccurately measure proteomic biomarkers from intact tissue specimens across solid tumors and other diseases to generate clinically actionable information. The platform is extensively suitable for development of companion diagnostic assays and evaluation of drug-able targets. Intact tissue proteomics better reflect the heterogeneous nature of disease processes and enable incorporation of morphology for more accurate risk assessment when compared to genomic approaches. Aninitial application is a prognostic prostate cancer biopsy test that robustly discriminates between patients with favorable versus aggressive disease.

Speaker: George D. Lundberg, M.D., Editor-at-Large, Medscape

The three key controllers of human behavior, law, ethics and morality, often find themselves in sharp dispute as informers of parameters and boundaries of activities in personalized medicine. Which should ultimately obtain? How should we make that happen? Who/what comes first? What are the processes that can assure best outcomes?

Speaker: Eric Kool, Ph.D., Professor, Stanford University

The field of Chemical Synthetic Biology aims to develop new designs and components for biomacromolecules such as DNA, RNA, and proteins. The ability to augment Nature’s molecular set allows us to add new capabilities for applications including biomedicine, nanotechnology, and even data storage. Our laboratory designs replacements for the natural DNA bases, including large-sized base pairs (xDNA) that can encode proteins in living cells, base pairs that function without Watson-Crick hydrogen bonds, 8-letter genetic alphabets that encode exponentially more information than natural DNA, and fluorescent DNA bases that can be strung together in thousands of combinations to tag diverse biomolecules.

Speaker: Robert Gerszten, M.D., Director, Clinical and Translational Research, MGH Heart Center

In longitudinal cohort studies, we have identified metabolite profiles of those destined to develop overt cardiometabolic diseases. The strongest predictors of future DM included specific amino acid and lipid species, as well as 2-aminoadipic acid. These metabolites predict DM above and beyond clinical risk factors and biochemical markers. By integrating metabolite data with genome wide scans, we have identified 23 novel genetic determinants of human metabolism, including 8 loci previously implicated in human diseases. We will present recent biomarker data from human cohorts, as well as experimental findings suggesting novel roles for specific metabolites in disease pathogenesis.

Speaker: Patrick McCormick, M.D., Chair, CEJA, AMA

Rapid innovation in genetics/genomics has opened new possibilities for patient care. But fundamental ethical responsibilities do not change with the evolution of new technologies. The challenge today is to understand how these fundamental responsibilities may play out differently in the realm of personalized medicine and to anticipate what implications that may have for the evolution of public policy in this dynamic environment.

Speaker: Michael Pellini, M.D., President & Chief Executive Officer, Foundation Medicine

Rapid advances in genomic sequencing are certainly revolutionizing cancer. ‘NGS’ is often viewed as being central to this paradigm shift, but the ability to generate and interpret “comprehensive" information is driving the real revolution. Today, the technology exists to routinely profile individual patients’ cancers and target the underlying mechanism driving tumor growth. Moving comprehensive genomic profiling (CGP) earlier in treatment will maximize clinical benefit and cost savings, and utilizing CTCs and cfDNA to monitor treatment will enable physicians to detect resistance early and alter therapies. The ability to collect, store, analyze, and deliver matched genomic and clinical data will be critical to maximize the value of these new tools

Speaker: Martin Naley, Founder and CEO, Cure Forward

We all know genomic medicine is poised to change cancer care. The technologies, tests, and informatics are improving every day. But adoption is slowed by the factors that we talk about all the time, like reimbursement and physician education. Patients can’t wait for practice to catch up to technology; they need productive answers now. Can patients drive the change that the personalized medicine industry seeks, by creating “pull” demand for tests? Maybe, but only if we make it worthwhile for them. Let’s consider how patient mobilization can become an effective catalyst for widespread adoption of genomics in cancer care.

Speaker: Jay G. Wohlgemuth, M.D., SVP, Medical, Science and Innovation, Quest Diagnostics

Cardiovascular disease remains a massive public health burden in the US and around the world. Cardiovascular laboratory based testing is a valuable tool to assess risk and triage patients to the best possible prevention or treatment strategy. New markers continue to advance and add value beyond established approaches. However, an even greater impact will come with the adoption of rapidly progressing healthcare IT applications and approaches which integrate labs with clinical information, enable caregivers to provide the right care and engage individuals in driving their own assessment and management plans.

Speaker: Gil Omenn, M.D., Ph.D., Director, University of Michigan Center for Computational Medicine & Bioinformatics

Cardiovascular diseases reflect many modifiable risk factors and multiple predisposing genes. This session will highlight omics-based predictive tests, molecular mechanisms, and scientifically-informed health promotion and disease prevention strategies. Proteomics, metabolomics, transcriptomics, physiological, behavioral, and clinical data need to be integrated in population studies and in evaluations of individual patients, leading to clinically actionable laboratory tests.

Speaker: Holbrook Kohrt, M.D., Ph.D., Assistant Prof. of Medicine (Oncology), Stanford University Medical Center

My focus is on augmenting the immune response against cancer to thereby someday obviate the need for chemotherapy. We have shown that by optimizing innate immunity we can secondarily augment long-term immune memory preventing tumor relapse. We have translated a novel combination immunotherapy approach from a series of preclinical mouse models into human clinical trials with promising, potentially, paradigm changing results in a patient personalized approach.

Speaker: Lawrence Lesko, Ph.D., F.C.P. Professor, Director Center for Pharmacometrics and Systems Pharmacology, UF

In the era of personalized medicine, the major focus has been on finding optimized genomic-driven treatments for patients. Optimized treatments, however, must consider both efficacy (benefits) and safety (risks). Although targeted therapy drugs, alone or in combinations, have made a substantial improvement in efficacy in oncology, infectious diseases and cystic fibrosis, there has been markedly less progress made on improving drug safety. This can negate the therapeutic advantages of targeted therapy drugs. I will present examples of unanticipated toxicities of targeted therapy drugs and compare the risks of these drugs to non-targeted drug therapies. Given the challenges of identifying toxicities of targeted agents during drug development, future improvements in targeted therapy drug safety will come from a thorough understanding of off-target pharmacology, data-mining of multiple safety databases and in silico approaches to understanding and predicting adverse drug reactions.

Speaker: David Jackson, Ph.D., Chief Scientific Officer, MolecularHealth

The clinical response of cancer patients to oncolytic agents is influenced by three major classes of molecular determinant; tumor intrinsic factors (e.g. tumor biomarkers); patient intrinsic factors (e.g. polymorphisms) and patient extrinsic factors (e.g. co-medications). Optimal patient care requires the integrated analysis and clinical interpretation of each of these factors. In my talk, I will present a novel computational technology and associated treatment decision support process that was designed to provide this knowledge-driven approach to clinical care in oncology. Case studies will demonstrate the utility of this technology in highlighting and improving the safety profile of viable treatment modalities.

Speaker: Patrice Milos, Ph.D., President and CEO, Claritas Genomics

Claritas Genomics spun out of Boston Children’s Hospital in early 2013 and maintains an active, collaborative relationship. Early organizational goals were to diversify the revenue stream, deliver new next-generation products, implement a robust quality management system and increase operational capacity to efficiently process thousands of samples. In this hypercompetitive marketplace, Claritas stands alone as a pediatric inherited disease testing entity that focuses not only on diagnostic testing but also on connecting experts within a network of pediatric hospitals for the benefit of clinicians, and patients and their families. Successes, and set-backs are key learning opportunities and specific cases show the power of partnerships between organizations. The development of our pediatric nephrotic syndrome panel, developed in partnership with a world leader in genetics of pediatric kidney disease will demonstrate the approaches Claritas is using to advance the use of genomics to impact pediatric medical care.

Speaker: Cornelius F. Boerkoel, M.D., Ph.D., CMO, Appistry

If we accept that health is adaptation to an ecological niche and the product of a genetic and cultural evolution unique to each individual, then disease (loss of health)isa manifestation of maladaptation. Addressing these maladaptions therefore requires delineating and correctingdisturbances of genetic, developmental, and physiological homeostases.In this context, genome sequencing is a measure of genetic homeostasis that must be integrated with measures of other parameters to provide diagnostic and therapeutic insights. It’s the ability to form diverse, testable hypotheses utilizing all of the potential measures ofhomeostatic disturbances together with collected niche expertise that will drive the delivery of truly individualized, personalized healthcare.

Speaker: Eric Sasso, M.D., Vice President, Medical and Scientific Affairs, Crescendo Bioscience

Vectra DA test measures 12 serum protein biomarkers and uses a validated algorithm to provide a score on a scale of 1 to 100. This score represents the level of disease activity in patients with rheumatoid arthritis (RA), a chronic disabling disease for which optimal care requires ongoing monitoring of disease activity and adjustment of therapy. The Vectra DA score was developed to correlate with DAS28-CRP, a conventional, clinically based composite tool for assessing RA disease activity. Changes in Vectra DA score correlate with changes in DAS28-CRP. In addition, the Vectra DA score has been shown to be associated with risk for new joint damage, or radiographic progression, and is a better predictor of joint damage risk than clinically based measures or the CRP blood test. This presentation will review studies demonstrating that, as a predictor of joint damage risk, Vectra DA is a measure of pathologically meaningful disease activity in patients with RA.

Speaker: Amir Dan Rubin, President & CEO, Stanford Health Care

Amir Dan Rubin, President and CEO of Stanford Health Care, will share Stanford's efforts to transform healthcare through the delivery of coordinated and personalized healthcare solutions.

Speaker: Steven H. Stein, M.D., Senior Vice President, US Clinical Development & Medical Affairs, Novartis Oncology US

SIGNATURE is a patient-triggered, target specific, tissue-agnostic clinical trial program. Each trial tests a drug that targets a specific genetic mutation. Patients with any tumor can enroll as long as they have the target mutation, and meet minimal inclusion criteria. Experienced Research Physicians with pre-identified patients (based on local mutational testing) contact the SIGNATURE Call Center to qualify their patient and trigger rapid study startup. The research site will be opened within 3 weeks. This allows the patient to remain close to their Physician as we deliver the "Protocol to the Patient". The endpoint of the study is Clinical Benefit Rate, and Safety. Using adaptive statistical design, data is analyzed frequently to look for early signals of efficacy, or to close enrollment in tumor types that do not show efficacy. Using this new approach, we can test an individual drug in multiple tumors, versus the old model of conducting individual studies for each tumor.

Speaker: Cliff Reid, Ph.D., CEO, Complete Genomics

The genetic causes of intellectual disabilities have been studied by microarray and exome sequencing with valuable but limited results. Whole human genome sequencing (WGS) can identify the genetic causes of intellectual disability in a substantially larger fraction of cases than those identified by microarray and exome sequencing. Recent WGS studies have further highlighted the role of de novo mutations in causing intellectual disabilities.

Speaker: Andy Kogelnik, M.D., Ph.D., Founder & Director, Open Medicine Institute (OMI)

Dr. Kogelnik will discuss how personalization through Genomics, Data Sharing and Social/Mobile technologies is changing all aspects of clinical trials and indeed the way we do research. How do we balance the potential power of crowd sourced data with the rigor of the randomized, controlled trial. New methods for patient engagement and data collection are challenging the traditional paradigms in favor of large scale data collection. These issues are affecting study design, recruitment, regulatory oversight, operations and research methodology. He will highlight several successful studies that have leveraged these technologies.

Speaker: Scott Patterson, Ph.D., Executive Director, Medical Sciences Amgen Inc.

We are now in an era where the one companion diagnostic, one drug paradigm is becoming untenable and counterproductive to the goal of improved patient care through accurate selection of those likely to benefit from a given targeted therapeutic. The competitive nature of drug development results in multiple therapies being tested against the same or different targets in a disease pathway where a single biomarker is considered predictive of outcome. A framework is needed to provide the opportunity for coordinated development of these diagnostics in a compliant manner to eliminate disparate assays entering the market. Some options will be discussed.

Speaker: Ann Kapoun, Ph.D., Vice President of Translational Medicine, OncoMed Pharmaceuticals

Incorporating predictive biomarkers into early clinical programs is both challenging and important for developing complimentary biomarkers for co-development. This talk will focus on how embedding personalized medicine strategies into drug discovery enables fast-tracking of CDx programs. Specific examples will be highlighted where clinical execution and implementation of protein and gene-based predictive biomarkers is being used aggressively in Phase 1 trials for prospective patient selection.

Speaker: Ira Mellman, Ph.D., Vice President, Cancer Immunology, Genentech

For the past 30 years, the search for effective cancer treatments has focused on the genetic drivers of cancer in the belief that targeting the root causes of the disease will yield curative therapies. Despite a Herculean effort on the part of both academia and industry, this approach has yielded only limited benefit. We have learned that cancer has a remarkable propensity for variation, enabling the rapid development of resistance to targeted therapies, greatly limiting their efficacy. More recently, advances in our understanding of the immune response to cancer has enabled us to re-evaluate the use of of agents that target the immune system rather than the cancer itself. By activating key aspects of a patient's immune system, a system which evolution has selected to combat complex and variable infectious agents, "cancer immunotherapy" is demonstrating dramatic and durable benefit for patients, and is changing fundamentally how we think about both cancer care and cancer biology.

Speaker: Tom Caskey, M.D., Professor, Baylor College of Medicine

Members of the Houston Young presidents Organization (90) were studied 30 months ago using personal history, family history, and whole exon sequencing. Their physicians (50) were studied 15 months ago by the identical IRB protocol. The objective of the study was identification of genetic disease risk, education, and suggestion of disease intervention options. The results will be reported as well as the post study evaluation of utility.

Speaker: Sean Scott, VP & GM, Clinical Genomics, QIAGEN

Instrumentation, assays, analysis pipelines and reference data continue to improve - to enable more scalable NGS based clinical testing – but accurate clinical interpretation of human variants continues to be the rate limiting factor for the broader adoption, usage and benefit of NGS technology in molecular diagnostic and molecular pathology labs. Many labs run into “interpretation” scalability challenges and simply must develop more scalable methods to differentiate their test service offerings. During this 15 minute talk Sean P. Scott, VP of QIAGEN’s Clinical Genomics, will demonstrate how clinical decision support systems can address this scale challenge and shorten test interpretation and reporting turnaround times and enforce variant classification, treatment selection and patient to trial matching in Oncology.

Speaker: Jared Heyman, CEO & Founder, CrowdMed

CrowdMed harnesses the wisdom of crowds to solve even the world's most difficult medical cases online. Their patented crowdsourcing approach solves cases in just weeks that had stumped individual doctors for years, at a small fraction of the cost of the traditional medical system. Learn the mechanics of how CrowdMed works, including their unique process, incentive structure, reputation system, community moderation features, and communication and collaboration tools.

Speaker: Richard Weinshilboum, M.D., Prof. Pharmacology Molec. & Experimental Rx & Med., Mayo Clinic

Pharmacogenomics (PGx) is the study of the role of inheritance in individual variation in drug response phenotypes. The initial focus of pharmacogenomics primarily involved pharmacokinetics PK), variation that influenced the concentration of drug that reaches the drug target (eg variation in drug metabolism), but it has increasingly moved to include genetic variation in pharmacodynamics (PD)—inherited variation in the drug target or downstream signaling from the target. PGx has been widely applied clinically to help individualize the drug therapy of psychiatric disease such as major depressive disorder (MDD)—with a major focus on PK. Studies that have been presented at this meeting in the past have supported the practical value of psychiatric PGx. This presentation will outline examples of recent efforts to extend psychiatric PGx to PD—in part by combining multiple “omics” disciplines.

Speaker: David Glazer, Engineering Director, Google

Topic will be evolving tools and standards for capturing our growing understanding of the data in genomic sequences, so that new studies can easily benefit from existing knowledge.

Speaker: David Haussler, Ph.D., Director, UCSC Cancer Genomics Hub, University of California, Santa Cruz

Industry, medical centers, academics and patient advocates have come together to create common standards for the representation and exchange of genomics information for both research and clinical use. The Global Alliance for Genomics and Health now involves hundreds of organizations and individuals worldwide. The open source projects of our Data Working Group welcome participation by all individuals and organizations.

Speaker: Sanjay Joshi, CTO, Life Sciences, EMC Isilon Storage Division

From the beginning of life on earth (notwithstanding the new panspermia theories), the properties of molecular self-assembly, self-replication and self-healing have driven the continuous change in flora and fauna. Will biological storage systems, biomarkers for drug development based on synthetic nucleotides, amino acids and biosensors drive the innovation in evolving methods for precision medicine for the human species? Join us for an “out-of-the-box” discussion on two specific use-cases: digital storage and chemosensors.

Speaker: John Sninsky, Ph.D., CSO, CareDx

While marked advances in quality of life and survival in organ transplantation have accrued due to improvements in surgical procedures, infection control, organ matching and immunosuppression, significant unmet clinical challenges remain. An ongoing challenge is the more precise long term balancing of avoidance of rejection with minimizing immunosuppression for individual patients. The complexity of the underlying biological processes involved and importance to simplify information for clinical decisions make case for querying and integrating multiple peripheral biomarkers to inform patient management decisions. Insights derived from molecular expression scores and the potential role of circulating free DNA to serve as a universal marker of rejection show particular promise.

Speaker: David H. Persing, M.D., Ph.D., Executive Vice President, CMO & CTO, Cepheid

The recent emergence of Ebola in West Africa has highlighted the critical requirement for rapid, actionable molecular diagnostic test results at the point of need. This presentation will describe how, starting with WHO endorsement of the Xpert MTB/Rif test in 2010, the deployment of GeneXpert technology has led to radical democratization of sophisticated molecular testing worldwide. This technology is now being leveraged in the face of the Ebola crisis, along with cloud-based systems for capturing case detection data streams in real-time. The convergence of rapid, accurate, decentralized testing with the emerging “digital miasma” provides a powerful new tool for the management of new epidemics in the 21st century.

Speaker: John Leite, Ph.D., VP of Oncology, Illumina

The application of next-generation sequencing (NGS) to research of cellular mechanisms has expanded our understanding of cancer and targeted therapy development. NGS platforms also show great promise in identifying cancer-driving mutations for proper diagnosis, prognosis and assignment of patients to the most effective therapy. However, this transition of NGS from a research platform to a clinical platform is challenged by a number of barriers to adoption. This presentation will highlight opportunities to address technical, clinical, regulatory, economic and ethical considerations in realizing the vision of precision medicine.

Speaker: Anne Wojcicki, CEO and Co-Founder, 23andMe

Putting genetic data into the hands of the people to whom it belongs is of critical importance. Everyone should have access to their genetic information and by empowering consumers with it, individuals have greater control over their health and lifestyle choices. In this model, we have the potential for a healthier world. 23andMe customers who opt-in to research have the opportunity to make an even greater impact. Using de-identified data, in aggregate, 23andMe uses genetic information to power medical research. Collecting large pools of genetic data is key to finding possible cures and treatments for diseases like cancer, dementia and diabetes. Crowdsourcing research can enable scientific discoveries at an unprecedented scale and pace.

Speaker: Jonas Korlach, Ph.D., Chief Scientific Officer, Pacific Biosciences

Characterization of human genomes and genetic variation has been dominated by short-read sequencing technologies, and many important insights have been gained through their application. However, structural genomic variation plays important roles in many diseases, but these types of variation have been more difficult to resolve with short-read sequencing because of read length limitations. I will highlight research by the scientific community applying long-read sequencing to resolve genetic variation over all size scales, not just SNPs, and including long-range allelic phasing. In addition, I will describe how long-read, full-length mRNA sequencing is increasingly used to improve our understanding of the complex architectural diversity of gene products, and their role in disease.

Speaker: Leroy Hood, M.D., Ph.D., President, Institute for Systems Biology

Systems medicine, the application of systems biology to disease, has reached a tipping point and is already beginning to transform the practice of medicine. Three converging opportunities—systems medicine, big data (and its analytics) and patient-activated social networks—are leading to a proactive medicine that is predictive, personalized, preventive and participatory (P4). I will contrast P4 medicine with contemporary evidence-based medicine and discuss its societal implications for healthcare. I will discuss how we plan to introduce P4 medicine into the current healthcare system with a P4 pilot program—a longitudinal, digital-age study on 100,000 well patients. We are already 10 months into a study of 107 well individuals and the preliminary results from these studies are striking. These advances will have profound implications for healthcare and society.

Speaker: Tim Sullivan, President and Chief Executive Officer, Ancestry.com

Ancestry holds a treasure trove of crowd-sourced data that has revolutionized how people discover their family’s history. With more than 15 billion historical records, more than a half a million genotyped AncestryDNA members and 200 million user-contributed photos, stories and documents, Ancestry leverages data to tell deeply personalized stories to customers. Ancestry combines cutting edge data science with information from a world-wide community of contributors to deliver meaningful, individualized insights — from familial connections to ethnic background insights — to millions of people around the world.

Speaker: David A. Dworaczyk, Ph.D., Director, Life and Health Sciences Strategic Development, Oracle

With shifts in the environment toward targeted/personalized treatments to improve patient care, it is apparent that the old paradigm of drug development is no longer sustainable. Researchers are incorporating biomarkers in clinical trials on a broader scale than ever before to support the accelerated development of new personalized therapies and medical diagnostics. Hospitals and drug development companies are pursuing the integration of data from multiple sources and embracing numerous data analytics strategies to analyze, interpret and understand those data to optimize individual patient care. The data the industry collects from clinical trials, EMRs, social media networks, smartphones, and the like, when normalized and standardized then married with advanced analytics can transform how drugs are discovered and developed.

Speaker: Jonathan Sheldon, Ph.D., Global Vice President Health Sciences, Oracle

Personalized medicine has the potential to revolutionize patient care. In order to do so, it requires a re-engineering of healthcare processes and the biomarker lifecycle from discovery to targeted treatment. Individual patient omic profiles have become a reality owing to the diminishing cost of DNA sequencing. However, managing and interpreting these complex genotypic and associated phenotypic data has created a bottleneck. Many of the systems in place today were not designed to scale to the sheer volume of data that has now become commonplace. As precision medicine moves into the mainstream of healthcare, the presentation will describe how the enabling IT systems need to evolve from a ‘cottage industry’ into enterprise grade mission critical scalable infrastructure.

Speaker: Kim Popovits, Chairman, CEO & President, Genomic Health

In cancer, personalized medicine is about patients understanding the genomic makeup, or molecular signature, of their particular tumor in order to better direct treatment. Over the past decade we have made significant progress in addressing the over-treatment of early stage cancer through the use of clinically validated genomic information with demonstrated clinical utility and proven health economic benefit. Today, tools are available to bring genomics to all stages of the cancer patient journey, from screening through disease monitoring, with the potential of transforming cancer into a manageable disease.

Speaker: Anthony Wiemelt, Ph.D., Chief Administrative Officer Precision Medicine, Penn Medicine & Brian Wells, Associate VP Health Technology & Academic Computing, Penn Medicine

Penn Medicine has invested heavily in creating an information technology infrastructure to integrate the capture and analysis of clinical data with the EMR, and to provide meaningful data back to the healthcare worker. The Precision Medicine initiative is leveraging these technologies to implement clinical projects that advance use of individualized data to improve clinical care of patients. This talk will provide an overview of the initiative, followed by a discussion of the IT platforms that have been developed.

Speaker: Charles A. Nicolette, Ph.D., CSO, Argos Therapeutics

The treatment of cancer has historically been a balancing act between efficacy and toxicity. Given the random genetic variability of disease from patient to patient, it is not surprising that the ‘one size fits all’ approach has fallen short. However, recent advances in immunotherapeutic interventions provide new tools that promise to allow continuous adaptation of anti-tumor effects by harnessing the functionality of the immune system with minimal toxicity compared to traditional drug interventions. To maximize the clinical benefit of immune interventions, strategic deployment either in combination with one another or with existing standards of care will be necessary. Optimal therapy will be achieved most efficiently by combining different mechanisms of actions to achieve synergistic killing while avoiding additive toxicity. This underscores the importance of understanding the mechanisms of action and pharmacokinetics of the therapies being combined.

Speaker: Rachid Karam, M.D., Ph.D., Variant Assessment Specialist, Ambry Genetics

Over the past few years, the clinical availability and utilization of multi-gene hereditary cancer panels has transformed hereditary cancer diagnostics. Here, we summarize our results and experience from a large cohort of patients referred for multi-gene hereditary cancer panel testing at our CAP-accredited, CLIA-licensed Molecular Diagnostic Laboratory (Ambry Genetics, Aliso Viejo, CA). Content is focused on expanding phenotypes of known cancer predisposition syndromes and the impact of panel results on cancer treatment and risk management.

Speaker: Janusz Dutkowski, Ph.D., Co-founder and CEO, Data4Cure

Across biomedicine – cancer included – it has become apparent that biological complexity extends far beyond individual genomic variants or single genes. A more comprehensive, multidimensional understanding of health and disease will be required to transform patient care. I will present results from several recent studies where new computational tools and platform were applied to track millions of data points for each patient, performing rapid analysis and data visualization in the context of a global molecular map of the human system. These studies uncover novel biomarkers of cancer progression and treatment response. Furthermore, they provide a framework for developing system-level patient reports for advancing clinical research.

Speaker: Emily Leproust, Ph.D., CEO, Twist Bioscience

In this talk, we will review DNA synthesis methods and the use of DNA as an attractive target for information storage because of its capacity for high-density information encoding, longevity under easily achieved conditions and proven track record as an information bearer.

Speaker: Patrice Milos, Ph.D., President and CEO, Claritas Genomics

Claritas Genomics spun out of Boston Children’s Hospital in early 2013 and maintains an active, collaborative relationship. Early organizational goals were to diversify the revenue stream, deliver new next-generation products, implement a robust quality management system and increase operational capacity to efficiently process thousands of samples. In this hypercompetitive marketplace, Claritas stands alone as a pediatric inherited disease testing entity that focuses not only on diagnostic testing but also on connecting experts within a network of pediatric hospitals for the benefit of clinicians, and patients and their families. Successes, and set-backs are key learning opportunities and specific cases show the power of partnerships between organizations. The development of our pediatric nephrotic syndrome panel, developed in partnership with a world leader in genetics of pediatric kidney disease will demonstrate the approaches Claritas is using to advance the use of genomics to impact pediatric medical care.

Speaker: Michael Rowbotham, M.D., Ca Pacific Medical Center Institute Senior Scientific Director, Sutter Health

Over 100 million people in the USA suffer from chronic pain at a cost of over $600 billion per year The primary outcome measure is a subjective self-rating of pain severity, and diagnostic classification schemes for chronic pain are maddeningly imprecise. Efforts to 'phenotype' patients using tools such as provocative pharmacological tests, fMRI, skin biopsy immunofluorescence microscopy of epidermal nerve fibers, and quantitative sensory testing are labor intensive and have for the most part failed to predict treatment response or natural history. Gene sequencing approaches have not yet found predictive biomarkers but research on heritable sodium channel subtype mutations have provided great insights that may yet produce new therapies. Despite these limitations, the patient populations are not difficult to find. For example, at Sutter Health, searching our data warehouse on ICD-9 codes for reliably diagnosed types of peripheral nerve diseases that may include neuropathic pain yields over 29,000 patients seen regularly by Sutter physicians. A robust Personalized Medicine / Precision Medicine approach is urgently needed.

Speaker: George Sledge, JR., M.D., Professor, Division Chief, Stanford University Medical Center

Genomic studies have suggested that human cancers vary widely with regard to their mutational load. This mutational load, in turn, is a principle determinant of patient outcomes and therapeutic response. On one end of the therapeutic spectrum, cancers with a low mutational load appear to be the best targets for kinase-based therapies. At the other end of the spectrum, there is growing evidence that tumors with high mutational loads are not good candidates for kinase-based therapies, but that such tumors may represent the optimum target for immune-oncologic approaches such as checkpoint inhibitor therapy.

Speaker: Rami Käkönen, President, MediSapiens (US) Inc.

Remission Coach®--a revolutionary online approach to clinical trials recruitment and retention--will significantly improve patient outcomes, while dramatically reducing drug development costs by improving patient recruitment, the single largest clinical trial cost driver.This research oriented program was designed and maintained by highly-acclaimed, non-profit personalized medicine cancer advocacy organization, International Cancer Advocacy Network (ICAN) and developed in collaboration with a leading cancer bioinformatics company, MediSapiens Inc., Remission Coach® is the world’s first system to provide the clinical trials community with a reliable, efficient system to recruit patients based on the details of their molecular profile.

Speaker: Rebecca Blanchard, Ph.D., Executive Director, Oncology Project Leadership, Merck & Co., Inc.

Our understanding of the consequences of human genetic variation to the practice of medicine is maturing at a rapid pace. Today, many drug development efforts include evaluation of genetic determinants of drug response. Pharmacogenomic (PGx) data are used to impact drug development strategy and the clinical use of drugs. This presentation will highlight methods used to routinely evaluate pharmacogenomics (PGx) in clinical trials and data that might impact drug development strategy.

Speaker: Nathan Caffo, President, Presage Biosciences

Drug combinations are a central strategy to combat tumor resistance. However, when multiple drugs are investigated in combination, the utility of genomic approaches to identify responder populations for otherwise targeted agents quickly diminishes. Furthermore, drug development often requires surveying broad populations in early combination trials. This creates a profound factorial problem, making clinical evaluation of all desired permutations of drug combinations and patient types impractical. Presage Biosciences is working with clinical investigators to pioneer a new type of trial to address this challenge. The company’s CIVO platform enables response to multiple drugs and combinations to be studied directly in human patients, and without exposing the patient to toxicity from traditional systemic dosing.

Speaker: Brad Gray, President & CEO, NanoString Technologies

Just as early detection allows us to diagnosis ever-smaller tumors, the insights from tumor profiling drive the need to unlock more genomic information from tiny tumor biopsies. This paradox can be addressed using the nCounter Analysis System, which can profile up to 800 genomic targets out of FFPE tumor biopsies. This platform has already been use to generate over 600 peer-reviewed publications, has been cleared for in vitro diagnostic use by the FDA, and is used in over 30 clinical labs worldwide. nCounter is emerging as the leading platform for tumor profiling and cancer diagnostics based on gene expression signatures.

Speaker: Felix Frueh, Ph.D., CSO, Human Longevity

To convergence of high-throughput molecular technologies such as whole genome sequencing and new information technology such as cloud computing and machine learning enables us to change our health care system from a reactive to a proactive environment. Prevention can become an essential part of what ultimately will result in healthier aging and longevity. This presentation will illustrate how these trends are emerging, how one can capture the essence of these trends and describe an approach that is based on excellence in data generation, big data management and processing, and innovative provision of care.

Speaker: Elli Kaplan, Co-founder & CEO, Neurotrack

Every 67 seconds, someone in the United States develops Alzheimer's disease. Currently the 6th leading cause of death, this devastating disease has no cure, and stands in the way of longevity. Neurotrack's technology is a key part of transforming the future of this disease, with the ability to diagnose Alzheimer's disease three to six years before the onset of symptoms, all through a simple, scalable eye tracking digital diagnostic test.

Speaker: Mike Nolan, Vice President & General Manager, Clinical Genetic Analysis Business, Thermo Fisher Scientific

Next-generation sequencing is rapidly becoming an indispensable tool for clinical research laboratories around the world with hundreds of thousands of test results being generated each year using Ion Torrent technology. New advances in Ion Torrent next-generation sequencing are enabling clinical research laboratories to uncover more genetic information from each FFPE tumor sample, including sequencing of SNVs, CNVs, indels, and translocations, all within a single workflow. The Ion Torrent technology is uniquely suited for low DNA and RNA sample input requirements from FFPE tumor tissues and liquid biopsy research samples (10ng extracted nucleic acid per reaction). Next-generation sequencing has the potential to change the future of clinical oncology from one based on multiple individual tests to one with universal multiplexed tests matched to multiple therapies. Supporting this pursuit, Thermo Fisher Scientific is collaborating with leading pharmaceutical companies and clinical oncology researchers around the world to develop a rapidly expanding portfolio of next-generation sequencing research and diagnostic solutions for solid tumor profiling and peripheral monitoring to help pioneer the path to precision oncology.

Speaker: Ilan Kirsch, M.D., SVP, Translational Medicine, Adaptive Biotechnologies

Recent advances in our understanding of the adaptive immune system have enabled development of many promising new drugs, vaccines and procedures that harness the body’s own defenses to combat cancer. As these novel immunotherapies establish an increasingly important role in cancer management, there is a corresponding need to develop effective clinical diagnostics that can characterize the immune response in a given patient and in that patient’s tumor. Immunosequencing has dramatically enhanced our understanding of this response by enabling highly sensitive and accurate quantification of the systemic immune receptor repertoire and the repertoire of tumor infiltrating lymphocytes (TILs), an approach that has shown promise in both research and clinical contexts. As exemplified by selected studies, TIL enumeration and quantification has the potential to serve as a biomarker that can inform prognosis and staging, predict response to treatment, monitor treatment effectiveness, and detect early signs of toxicity.

Speaker: Kathryn Blair, Ph.D., Director of Product Management, Seven Bridges Genomics

Data produced by cancer genomics research will soon reach exabyte scale, outgrowing current IT approaches to genomic analysis. Moreover, current analytical approaches suffer from “reference bias,” which hinders variant detection generally and in particular the identification of structural variation, known to play an important role in cancer. A cloud-based platform for genomic analysis promises to democratize cancer genomic research and sets the foundation for a novel analytical approach of “Genome Graphs.” This new data structure for genetic sequences can capture a wide range of variation, promising to significantly overcome reference bias and improve our understanding of cancer.

Speaker: Euan Ashley, Ph.D., Director, Stanford Clinical Genomics Service

As we move towards much more widespread incorporation of genomic data into the management of our patients, the importance of accuracy in sequencing and variant calling becomes paramount. In this talk, I will explore some of the challenges that remain for our community to realize fully clinical grade sequencing for personalized medicine. In particular, for each area I will describe the problem and point to potential solutions currently or shortly available. Ultimately the genome is complex and our tools have to reflect that complexity to best serve the needs of individual patients and families.

A Compliant Framework for Precompetitive Companion Diagnostic Development?

We are now in an era where the one companion diagnostic, one drug paradigm is becoming untenable and counterproductive to the goal of improved patient care through accurate selection of those likely to benefit from a given targeted therapeutic. The competitive nature of drug development results in multiple therapies being tested against the same or different targets in a disease pathway where a single biomarker is considered predictive of outcome. A framework is needed to provide the opportunity for coordinated development of these diagnostics in a compliant manner to eliminate disparate assays entering the market. Some options will be discussed.

Given the availability electronic medical records (EMR’s) we can now examine the results from decisions made by care providers for people that are similar to you—generating evidence based on the collective practice of experts. This session will outline the key steps to achieving this vision, and the data challenges that need to be solved at each step.