Speaker: Michael Kolodziej, M.D., National Medical Director, AETNA

The transformative potential of genomic medicine can only be realized in an environment of rapid evidence accumulation, interpretation, and implementation. Current trends in health care reform could have either a facilitating or retarding effect. I will discuss the current payer provider model, discuss shortcomings of the current system, and propose collaborative soluions.

Speaker: Jeffrey Bland, Personalized Lifestyle Medicine Institute (PLMI)

We are witnessing a global increase in chronic disease. The management of cardiovascular, metabolic and autoimmune diseases constitute more than 70% of all health care expenditures in the United States with this trend now being seen in Asia, Latin and South America, Africa and the Mideast. The solution to this pandemic is to be found at the intersection of genomics and lifestyle. This presentation will discuss both why and how personalized lifestyle medicine represents the opportunity area for creating improved patient outcome and a reduction in the global burden of chronic disease.

Panelists: Kim Popovits, Genomic Health, Randy Scott, InVitae, Brook Byers, KPCB, Moderator Ralph Snyderman, Duke University

The sequencing of the entire human genome in 2000 heralded the hope and expectation that genomics and related technologies would initiate a transformational era of personalized medicine. It’s been a decade since the establishment of businesses and initiatives to bring this about. This panel consists of individuals that were there at the beginning and led in the creation of the field of personalized medicine. The focus of the discussion will be what they envisioned at the outset, what they learned and what they plan to do next.

Speaker: Lincoln Nadauld, M.D., Director of Cancer Genomics, Intermountain Healthcare

Genomic cancer medicine involves the identification of clinically actionable genetic aberrations from an affected individual’s malignancy. Diagnostic genetic information from a tumor is used to predict optimal therapies and to determine prognosis related to adverse events such as metastatic recurrence. Ultimately, widespread adoption of genomic cancer medicine requires evidence-based demonstration that this new clinical paradigm offers improvements in clinical outcomes for a broad population of patients in a cost effective manner. To this end, Intermountain Healthcare has developed a genomics cancer medicine pilot program to provide patients with precision cancer medicine and to determine whether a genomics-based cancer treatment approach yields superior outcomes.

Speaker: Allen D. Roses, M.D., CEO, Barbaresco Pharmaceuticals, Inc.

A highly polymorphic polyT marker at a single locus [rs10524523] in intron 6 of TOMM40 was found to extend the association of APOE4 to include APOE3 and APOE2. The TOMM40 data are informative for prediction of age of onset of Mild Cognitive Impairment due to Alzheimer’s Disease over the next five years for 97% of Caucasians, based on age and genotype between 65-83 years old. Phylogenetic mapping has facilitated the enrichment of the TOMMorrow clinical trial [Zinfandel-Takeda Alliance] for low dose pioglitazone to delay the onset of MCI. Similar analyses has led to a new faster screens for highly associated markers for other complex diseases, and realistic translation of post-GWAS gene lists.

Speaker: Gad Rennert, M.D., Ph.D., Professor of Public Health, Technion & Carmel Medical Center of Clalit

A real life example of implementing a centralized personalized medicine program at a country level. The philosophy behind the program as well as the clinical outcomes (survival) that can be achieved based on molecular findings will be described in detail specifically for lung cancer and colorectal cancer (more than 100,000 tests in more than 5,000 patients).

Speaker: Abass Alavi, M.D., Professor of Radiology, University of Pennsylvania Hospital

The introduction of modern imaging techniques has truly revolutionized medicine. In particular, molecular imaging with PET has opened a new era in medicine. The impact of detecting diseases at the molecular level and in advance of structural changes has been far reaching. As such, this new modality has brought about a paradigm shift in personalized medicine. In addition, many new drugs are developed by visualizing target sites with this approach. This has enormous potential for individualizing interventions for optimal outcome. It is expected that molecular imaging with PET will become the centerpiece of the practice of medicine in the future.

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

The past decade of cancer medicine has been devoted to targeting specific molecules (typically kinases) involved in tumor growth. The advent of large-scale genomic analyses, and the increasing access brought about by the falling costs associated with these analyses, will revolutionize our approach to cancer. Real challenges, some scientific, some logistic, and some regulatory in nature, arise from these changes, and will be addressed in the course of the talk.

Speaker: Amir Onn, M.D., Director, Center of Pulmonary Oncology, Sheba Medical Center

Clinical trial design in oncology has become complex because of rapid progress in the development of cancer therapeutics and identification of multiple biological markers of response or resistance to these agents. The WIN Consortium (Worldwide Innovative Networking in personalized cancer medicine) has developed an original academic and international clinical trial named WINTHER. This is the first clinical trial offering a choice of cancer therapeutics guided by the individual's specific tumor biology. Double biopsy will be obtained from the primary tumor (or metastasis) and normal tissue of each patient. A comprehensive biological analysis will be conducted, including studies for expression of DNA, RNA and microRNA. The therapeutic options will be discussed between study leaders and decision will be based on an estimated drug efficacy scoring bioinformatics tool. The aim of this study is to propose a personalized treatment approach for most of the patients enrolled in WINTHER. Participating centers include MD Anderson Cancer Center ( Houston, Texas, USA), Vall d'Hebron Hospital (Spain), Chaim Sheba Medical Center (Israel) and Gustave Roussy Institute (Villejuif, France).

Speaker: Allen D. Roses, M.D., CEO, Barbaresco Pharmaceuticals, Inc.

A highly polymorphic polyT marker at a single locus [rs10524523] in intron 6 of TOMM40 was found to extend the association of APOE4 to include APOE3 and APOE2. The TOMM40 data are informative for prediction of age of onset of Mild Cognitive Impairment due to Alzheimer’s Disease over the next five years for 97% of Caucasians, based on age and genotype between 65-83 years old. Phylogenetic mapping has facilitated the enrichment of the TOMMorrow clinical trial [Zinfandel-Takeda Alliance] for low dose pioglitazone to delay the onset of MCI. Similar analyses has led to a new faster screens for highly associated markers for other complex diseases, and realistic translation of post-GWAS gene lists.

Panelists: Eric Lai, Takeda / Suzanne Vernon, CFIDS Association of America / Robert Plenge, Merck Research Laboratories

The completion of the Human Genome Project, the International HapMap Project and the development and application of new molecular technologies, especially high-throughput DNA sequencing, have provided critical knowledge for understanding human diseases and have promised to greatly improve Healthcare. An amazing volume of genetic and genomic data has been generated in the past few years. These large datasets have been used mainly for the identification of disease genes and to understand disease mechanisms. This session will focus on the application of big research data to address unmet medical needs and patient stratification strategies for personalized medicine.

Speaker: Tamara Fraizer, Ph.D., Principal, Fish & Richardson

The current intellectual property landscape is dynamic, and the mechanisms for using intellectual property law to protect innovations in personalized medicine are varied and sometimes untested. This presentation will identify ten features of the current landscape that can help personalized medicine companies make the most of their intellectual property. Included are aspects of the new patent laws that affect joint development, new PTO procedures to challenge patent validity, legislative efforts to curtail non-practicing entities, and the use of “soft IP” to complement patent protection.

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

Incorporating predictive biomarkers early enough into clinical programs has been a challenge, yet this is essential to ensure that each clinical candidate has a complimentary biomarker for co-development. This talk will focus on how embedding PM strategies into drug discovery enables fast-tracking of CDx programs. Specific examples will be highlighted where clinical execution and implementation of predictive biomarkers is being used aggressively in Phase 1 trials for prospective patient selection.

Speaker: Narges Bani Asadi, Ph.D., Founder & CEO, Bina Technologies

Traditionally, researchers have had to choose between fast genomic analysis with a high rate of error, or an accurate analysis that took a week or more for a single genome. Now, they can achieve ultra-high speed analysis for Whole Genome, Whole Exome, RNA-seq, targeted panels, and cancer workflows without sacrificing accuracy or completeness. We will demonstrate how the Bina Genomics Analysis Platform achieves the fastest turnaround time and throughput in the industry. We’ll also share customer stories that highlight how the Bina Platform has enabled major translational medicine projects and fast turnaround for the analysis of newborn and cancer patients in clinical settings.

Speaker: Han-Oh Park, Ph.D., CEO, Bioneer Corp.

Schizosaccharomyces pombe has been an important model system to study cell division and signal transduction mechanism. S. pombe genes are not just highly homologous to human genes but also the pathways are similar. Gene deletion inside a cell is an essential tool to study gene function through phenotype investigation and drug target validation. The completion of the S. pombe genome knockout project resulted in the introduction of a genome-wide drug target screening system, GPScreen™. In this presentation we will discuss how we can utilize GPScreen platform technology in accelerating drug discovery by rescuing and repurposing drugs.

Speaker: Peter Jackson, Ph.D., Professor Stem Cell Research, Stanford University

Our ability to navigate the landscape of human disease is limited because the map of functional pathways connecting proteins to specific diseases is poorly drawn. The Jackson Laboratory uses high throughput mass spectrometry methods to identify disease-linked proteins and to construct dense protein interaction maps. These improved maps provide important biological insights, and identify new diagnostics and drug targets. The presentation will explain the technology and analysis methods and describe the powerful insights achieved. To exemplify the methods, our discoveries of ciliopathies, newly identified neurological and kidney diseases with links to obesity, retinal degeneration, and cancer will be presented.

Speaker: An Pang Chieng, M.D., National PI, WARFARIN Study

Iverson Genetics is currently performing a study, supported by The Center for Medicare & Medicaid Services, addressing the question of whether or not genetic information can reduce the incidence of bleeding and clotting adverse events associated with the initiation of Warfarin therapy (one of the most problematic medications in our healthcare systems history). The outcome of this study could potentially influence the manner in which new pharmaceuticals are brought to market.

Speaker: Lucy Lu, SVP, Corporate and Business Development, Crescendo Bioscience Inc.

Companion diagnostics are the cornerstone of personalized therapies. Complementary diagnostics present a broader opportunity to personalized medicine going beyond the combination of one drug and one test. We will consider the entire journey of patients’ disease processes and allow patients to be more actively engaged in their healthcare experience and experience better outcomes.

The presentation will share Crescendo Bioscience’s experience in using its Rheumatoid Arthritis (RA) disease activity test, Vectra DA, to improve clinical disease management and support multiple aspects of RA drug development across different MOAs. This approach individualizes the patient’s response to disease management by using objective, validated and reproducible testing as well as guiding clinical trails towards desired outcomes that are more predictable and efficient.

Speaker: David Magnus, Ph.D., Director, Center for Biomedical Ethics at Stanford University

Next-Generation sequencing technology offers tremendous promise to transform clinical diagnostics and patient care. Early efforts at program development have already yielded some important insights into a number of challenging issues that need to be addressed, including privacy, incidental findings, returning information of unknown or unclear significance, and informed consent. We conducted interviews and evaluated public information from some early adopters of Next-Generation sequencing in clinical practice and have identified two fundamentally different approaches to program development that yield two different ways of addressing consent, and other policy issues. These approaches and their strengths and weaknesses will be discussed.

Speaker: Brian D. Athey, Ph.D., Professor of Psychiatry and Internal Medicine University of Michigan Medical School

Neuropsychiatric disorders including major depression, schizophrenia, bipolar, chronic pain, and ADHD have a two-fold greater aggregate prevalence than cancer, cardiovascular, and diabetes combined. Neuropsychiatric disorders account for a larger proportion of health-related disability than any other group of illnesses, with over 50 million patients in the U.S. alone. Substantial evidence for the association between polymorphisms and patient response to psychotropic medications has been published over the past several years, including clinical studies demonstrating improved outcomes through pharmacogenomic-guided prescribing of psychotropic medications. Pharmacogenomic testing can facilitate individualized treatment strategies for patients prone to treatment resistance or suboptimal medication efficacy. Recent advances in translational psychiatric pharmacogenomics, their application in clinical practice, next generation technology, psychiatric epigenetics, and bioinformatic solutions will be discussed.

Speaker: Christopher P. Leamon, Ph.D., VP Research & Development, Endocyte

The use of small molecule drug conjugates (SMDCs) and their companion imaging agents is a novel and personalized approach allowing for the identification of patients most likely to benefit from the targeted treatment. SMDCs consist of low molecular weight, high-affinity targeting ligands that are precisely tethered to very potent drugs. Their corresponding companion imaging agents have the same targeting modality within the SMDC and allow for the non-invasive capture of whole-body images of a patient in real-time. The SMDC, vintafolide, a potent folate-targeted vinca alkaloid conjugate, together with its companion imaging agent, etarfolatide, are currently being evaluated in global Phase 3 and Phase 2 trials. Additionally, a PSMA-targeted imaging and therapeutic “pair” will enter the clinic in early 2014.

Speaker: Nathan Price, Ph.D., Associate Director, Institute for Systems Biology

Omics technologies hold tremendous promise for medical diagnostics. However, while numerous reports in the literature purport to find diagnostic signatures of disease, very few have translated thus far to the clinic. I will discuss reasons for this phenomenon, and present our recent success, with our collaborators at Integrated Diagnostics and the Institute for Systems Biology, of a now clinically-availalbe test that can distinguish malignant and benign lung nodules -- providing an important new guide to therapy and a roadmap for future successes in translational omics.

Speaker: Nicky Lieberman, M.D., Head, Community Medicine Division, Clalit Health Services, Israel

Clalit is the largest HMO in Israel, with more than 4 million ensurees, hospitals, community clinics, comprehensive EMR. Prevention is Clalit's basic belief. Primary prevention of hyperlipidemia, then we developed the pre-Diabetes program, with our complex diabetes program and the results were lowering PCA's with 18% and CABG's with 22% in all Clalit patients. Since we have long term incentives due to low attrition rates, we embarked on a data mining process in order to identify the populations at risk for severe or chronic diseases and to start preventive measures in these populations: preventive programs in nephrology, program for treating complex chronic NCD's in primary medicine settings, predicting and preventing deterioration of elderly patients, using data warehouse analysis to control antibiotic use and lower antibiotic resistance and a new program for prediction and prevention of risks in pregnancy, including Gestational Diabetes. These combined implementation of new personalized technologies in oncology.

Speaker: Alan H.B. Wu, Ph.D., Professor of Laboratory Medicine, UCSF Pathology & Laboratory Medicine

A barrier towards Implementing pharmacogenomics into routine clinical practice has been education. While there is ample evidence on the usefulness of pharmacogenomic testing, many physicians have not adopted testing because of cost, lack of test availability, the absence of direct medical decisions or just a lack of knowledge of what is personalized medicine. Rather than a "top down" approach, at UCSF, we are experimenting a "bottom up" by teaching pharmacogenomics by using the students themselves as patients. The disclosure of an individual's pharmacogenomic profile increases the interest and relevance in the topic. It is hoped that these students will lead the next generation of physicians, nurses, and pharmacists in bring personalized medicine to the forefront.

Speaker: Donna G. Crenshaw, Ph.D., MHA, Director of Strategic Partnerships, Clinical Genomics Studies, Duke University Medical Center

Instead of focusing on the pathogen, we have identified a host gene expression signature that is diagnostic of respiratory viral infection. This signature is >95% accurate and detectable as early as 29 hours post-exposure. Viral versus bacterial respiratory infections can be distinguished with >93% accuracy. We have also developed host signatures of bacterial and fungal infections in model systems. These results suggest the clinical potential of assaying the host response.

Speaker: Gavin J. Gordon, MBA, Ph.D., VP, Business Development & Strategic Alliances, CollabRx

Next-generation sequencing (NGS) is increasingly being applied to diagnose and inform treatment planning in oncology and other diseases. The explosion of NGS data in oncology is expected to outpace the ability of practicing physicians to stay current on the clinical impact of the data, particularly given the rapid advancements in translational and clinical research. As a result, laboratories that provide such services are increasingly adopting the position of selling "reports", or knowledge, and not simply test results. This paradigm shift requires competencies and capabilities not traditionally found in the laboratory environment. CollabRx is a data analytics company that has developed a fully automated and scalable solution to provide for an expert-vetted clinical interpretation of NGS tests in cancer. The company's product and service offerings to the laboratory market will be described in this presentation.

Speaker: Michael Thaler, Professor Emeritus, UCSF

Medical decisions based on electronic Big Data from billions of DNA sequences, environmental toxins, intercurrent illnesses, physical insults and personal parameters involve unprecedented challenges and choices. In such circumstances, standard bioethics approaches will operate in largely untested settings, assisted by physicians generally incapable or unwilling to provide adequate clinical guidance for these prophylactically complex yet often phenotypically unremarkable patients. Thus, paradoxically, patients who benefit from the most advanced and precise medical systems, are left without interpreters or advisors to guide them through convoluted statistical data and barely intelligible results. Such patients may be considered equivalent to today's "underrepresented" or marginalized individuals, whose health care decisions, made by physicians on their behalf, risk being biased, arbitrary, careless or uninformed. Even in the fairly standardized clinical settings today, most states prohibit patients from selecting their own physicians as surrogates. I will present a practical and effective solution to this obstacle whereby the rights of both patient and practitioner are respected and the personalized paradigm can function according to accepted ethics principles of patient freedom to participate in therapeutic decisions and informed consent.

Speaker: Hartmut Juhl, M.D., Founder and Chief Executive Officer, Indivumed

Proteins (e.g., growth factor receptors) and regulatory phosphoproteins of cancer pathways serve as targets and, potentially, predictive biomarkers for personalized medicine. Their expression and phosphorylation status in tumor tissue, however, depends highly on tissue processing and intrasurgical factors. The lack of controlled tissue collection in clinical trials and, later, patient care, limits the implementation of effective personalized therapies; Therefore, a controlled and standardized process for tissue processing becomes essential for improving personalized treatment for cancer and, thus, has to be integrated in the tissue diagnostic workflow as a part of the diagnostic procedure.

Speaker: Steven Goodman, M.D., MHS, Ph.D., Professor of Medicine and of Health Research & Policy at Stanford University

It is well recognized that sharing and pooling data from clinical trials can help strengthen the scientific basis for personalized medicine. Many groups from industry, government and academia are proposing or implementing such policies, but they differ widely. In spite of its potential benefits, there are a host of professional, financial and legal disincentives to data sharing. This talk will review those policies and barriers, and talk about the principles a recent IOM committee put forward to establishing a model for data sharing policies from clinical trials.

Speaker: Abass Alavi, M.D., Professor of Radiology, University of Pennsylvania Hospital

The introduction of modern imaging techniques has truly revolutionized medicine. In particular, molecular imaging with PET has opened a new era in medicine. The impact of detecting diseases at the molecular level and in advance of structural changes has been far reaching. As such, this new modality has brought about a paradigm shift in personalized medicine. In addition, many new drugs are developed by visualizing target sites with this approach. This has enormous potential for individualizing interventions for optimal outcome. It is expected that molecular imaging with PET will become the centerpiece of the practice of medicine in the future.

Speaker: Andre Marziali, Ph.D., Founder, Chief Scientific Officer, Boreal Genomics Inc.

Detection and monitoring a tumor genome using a minimally invasive test, often described as a “liquid biopsy”, is the holy grail of cancer diagnostics.

Tissue biopsies are increasingly limited in availability and may not represent the complete genomic landscape of an individual’s disease due to tumor heterogeneity. A blood test, by comparison, offers an ideal mechanism to access a more universal analysis of tumor genomes with less sampling or technical bias.

Boreal Genomics has developed a highly multiplexed assay for exceptionally sensitive and specific detection of circulating tumor DNA (ctDNA) from plasma. We present an overview of the technology and results from ongoing studies to demonstrate the utility of ctDNA as an effective biomarker to guide treatment and management of cancer.

Speaker: Amit Etkin, M.D., Ph.D., Investigator, Palo Alto VA & Ass. Professor of Psychiatry and Behavioral Sciences, Stanford University

Antidepressant medications are one of the most frequently prescribed classes of medications, yet only about one-third of patients achieve remission, and there is no predictive test available in routine practice for guiding choice of which medication is likely to optimize remission for each patient. Dr. Etkin will describe results, using a machine learning approach applied to a behavioral battery of cognitive and emotional functions in 1008 depressed patients, with which prediction of treatment outcome could be achieved. These findings demonstrate the first large-scale proof-of-concept for clinic-ready computerized and standardized behavioral tests in predicting treatment outcome for depression.

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

What is personalized medicine? What are the benefits and challenges? Where is the greatest use of personalized medicine approaches?

Speaker: Edgar D. Staren, M.D., Ph.D., MBA, President and CEO of CTCA Medicine and Science

a. When a patient is newly diagnosed with a condition such as cancer, what steps should they take to determine if molecular testing and personalized therapies are appropriate?

b. For patients whose diseases have progressed beyond the standards of care, which personalized medicine protocols should they consider?

c. How can personalized medicine be safer as well as more effective?

d. How will personalized medicine change for breast cancer in the next 5 years?

Speaker: Neil Schiffman, Lung Cancer Survivor; Sharon Terry, Genetic Alliance; Ysabel Duron, Executive Director, Latinas Contra Cancer; Danielle Hicks, Bonnie J Addario Lung Cancer Foundation

a. What are patients asking about personalized medicine?

b. How are patient advocacy groups discussing personalized medicine with their patients?

c. What can we do as a community to learn and share the experiences of patients who have experienced personalized medicine?

d. How do we engage patients to take an active role in advancing the practice of personalized medicine?

Speaker: George D. Demetri, M.D., Director, Ludwig Center at Dana-Farber/Harvard

a. When a patient is newly diagnosed with a condition such as cancer, what steps should they take to determine if molecular testing and personalized therapies are appropriate?

b. For patients whose diseases have progressed beyond the standards of care, which personalized medicine protocols should they consider?

c. How can personalized medicine be safer as well as more effective?

d. How will personalized medicine change for sarcoma in the next 5 years?

Speaker: Lincoln Nadauld, M.D., Director of Cancer Genomics, Intermountain Healthcare

a. When a patient is newly diagnosed with a condition such as cancer, what steps should they take to determine if molecular testing and personalized therapies are appropriate?

b. For patients whose diseases have progressed beyond the standards of care, which personalized medicine protocols should they consider?

c. How can personalized medicine be safer as well as more effective?

d. How will personalized medicine change for cancer patients in the next 5 years?

Speaker:

a. How are companion diagnostic tests and molecular panels used? What are the differences?

b. Why are these tests important to a patient?

c. How are these tests paid for?

d. How does a patient know if insurers/third-party payers will cover a molecular diagnostic test or targeted therapy?

Speaker: Gabriel Eichler, Patients Like Me / Frank delaRama, PAMF / Maayan Cohen, Hello Doctor / Cynthia Kimball, The Kimball Family Foundation

This session discusses how both online and offline patient communities can help improve patient outcomes and what tools patients can use to navigate their disease from diagnosis through survivorship. Panelists will also cover how mobile health and patient communities engage patients and other stakeholders to advance the practice of personalized medicine.

Speaker: Jeanette McCarthy, MPH, Ph.D., Editor-in-Chief, Genome Magazine

Recent headlines about breast cancer genetic testing, from Angelina to Myriad to 23andMe, highlight the growing gap between advances in genomic medicine and the under-educated users of these tools. Health care providers and consumers alike are often unaware of the existence of new genomic tests, the indications for their use and the places to find objective information about their clinical validity and utility. What are the options for improving provider education in this area? Why is the patient’s voice so critical in keeping the pressure on the health care system to advance genomic medicine and how can patients remain informed?

Speaker: Deneen Vojta, M.D., Senior Vice President, Business Initiatives and Clinical Affairs, UnitedHealth Group

This presentation will discuss spending, utilization and adoption trends for personalized medicine and challenges for coverage and reimbursement. Dr. Vojta will discuss the increasing focus on the value proposition for molecular diagnostics and the impact of changes in the delivery system on reimbursement. She will also discuss how advances in whole genome sequencing might impact reimbursement models. Finally, she will offer practical recommendations for advancing personalized medicine, bringing new technologies from “bench to bedside” to improve patient care.

Speaker: Christina Mailloux, Ph.D., Medical Science Liaison, Iverson Genetics

Historically, physicians have had to rely on the trial-and-error approach to prescribing drugs to their patients. This “one size fits all” approach to drug therapy is being transformed as a result of pharmacogenomics, which through genetic testing enables patients to receive medicines that are safer and more effective, leading to more personalized health care. We will show how physicians are having transformational results by utilizing Iverson Genetics’ portfolio of testing panels for cancer, cardiovascular, pediatric, psychiatric and pain management to provide tailored drug therapy to patients based on their genetic variations. In addition, we will introduce Iverson’s new Women’s Health Estrogen Metabolism Panel (E-Metab), which assesses variants in genes implicated in the metabolism of estrogen to predict breast cancer risk.

Panelists: Catherine Polizzi, Morrison & Foerster LLP/ Michael Shuster, Fenwick & West/ Ben Jackson, Myriad Genetics/ Jose Haresco, JMP Securities/ Steven Rosenberg, CardioDx

A panel of experts will discuss the impact of the Supreme Court’s 2013 Myriad decision on multiple aspects of the personalized medicine diagnostics industry. Our experts will explore ensuing changes to the marketplace, including entry of new players offering genetic tests for BRCA mutations, ongoing patent disputes between Myriad and new market entrants, and the impact of this decision on the investment climate for personalized medicine. We’ll provide a summary and analysis of Ariosa’s application of the Myriad decision to obtain a recent district court victory over Sequenom. Our panelists will also share their insights into how Myriad is impacting US patent practice, and strategies to protect inventions based on nucleic-acids and other biological molecules. Learn how and why Myriad’s reach may well extend far beyond genetic testing. Join us for what promises to be a lively update on the reverberations of Myriad through the diagnostic industry and beyond.

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

As the front-end technologies of Genome Sequencing, Flow Cytometry and Proteomics move closer to “production ready” systems for Healthcare systems and patient care, the realities of method design, LIMS, validation and verification, algorithm management, along with the various infrastructure components from compute to storage are challenging the Quality System. Sanjay will present a 2013 synopsis of the quality process involved in integrating Genomics with Clinical systems.

Speaker: Doug Bassett, Ph.D., CSO and CTO, Ingenuity Systems

Efficient and accurate interpretation of DNA variants from sequence-based tests based on up-to-date clinical case reports, gene, and disease knowledge is a critical challenge for clinical laboratories. This challenge is compounded by increasing test complexity due to larger panels, emerging evidence, and imprecise phenotypes. Interpretation of variants can be streamlined by combining systematic expert curation of the biomedical literature with easy-to-use software that synthesizes relevant published clinical cases, therapeutic indications, and guidelines such as NCCN, ASCO and ACMG incidental findings--enabling labs with a scalable evidence-based approach to more efficiently classify variants according to ACMG guidelines or custom laboratory scoring rules.

Speaker: Howard Jacob, Ph.D., Prof., Physiology & Molecular Genetics & Chair in Genetics, Medical College of Wisconsin

Three years ago, we began building our Genomics Medicine Clinic. Our focus has been on using genome wide sequencing. We began with a pilot project that was published earlier this year (Sci Transl Med 17 July 2013: Vol. 5, Issue 194, p. 194). We have built an advanced software platform for analyzing every variant. Each variant gets up to 150 annotations—all in a CAP/CLIA certified analysis pipeline. We not only report what was sequenced but what was not sequenced. The software platform has been built for the physician and genetic counselor and is NOT a research tool that has been repackaged. The software also generates much of the report; thereby, reducing the risk of transcription error. We have found that we can increase the power to make a diagnosis by using the sequence from the entire genome rather than just the exome. Nonetheless, insurance companies usually prefer to pay for exome sequencing over whole genome sequencing. We have compared coverage and find that exon sequencing misses more than 200 variants that are known to be causal. In contrast sequencing the whole genome only misses one. Aspects of data return and incidental results from actual patients will also be discussed.

Speaker: Adem Albayrak, Product Manager, Human Mutation and Variant Analysis, BIOBASE

To address the challenge of screening patient genomes for actionable variants, we have developed a manually curated database of pharmacogenomic variants from the scientific literature. Serving as a comprehensive resource for all variants that have demonstrated significant impact on drug response in patients, the database provides rich information as evidence for these associations, including genomic location and sequence changes, resulting phenotype, drugs administered, patient population, disease context, statistical significance, and a link to the original reference. The database is available through an online search interface, or for download for integration into existing tools and data processing pipelines.

Speaker: Gianluca Roma, MBA, Director, Product Management, WaferGen Biosystems

The main challenge for clinical targeted next-generation sequencing methods is obtaining complete and uniform coverage of all target regions. Some popular methods for target enrichment rely on lengthy and inefficient hybrid capture or multiplexed PCR techniques, resulting in lower coverage and more off target reads. To address these challenges, WaferGen has developed the high-density SmartChip TE System. One SmartChip TE panel supports conducting hundreds to thousands of parallel, singleplex PCR reactions to efficiently enrich desired target regions in less than 3 hours. High design rates and percent bases on target ensured specific amplification necessary for efficient enrichment. The sequencing results from SmartChip TE enriched targets showed coverage at 20x and 100x of 98.8% and 98.2% respectively with a uniformity of coverage of 98% at > 10% of mean coverage. The unprecedented enrichment quality is achieved with flexibility of running up to 2500 unique singleplex reactions on a single SmartChip TE chip. The results indicate that CLIA-certified or clinical research laboratories can utilize the SmartChip TE system to obtain the most complete and uniform coverage among target enrichment technologies.

Speaker: Mya Thomae, CEO, Myraqa

How regulation, requirements and restrictions could disrupt the vicious cycle of declining value in the diagnostic marketplace.

Panelists: Steve Quake, Stanford University/ Cliff Reid, Complete Genomics/ Stefan Roever, Genia/ Mike Hunkapiller, PacBio/ Paul Billings, Life Tech. Moderator: Kevin Davies, ACS

The PMWC 2014 sequencing panel will provide a lively discussion of current trends and applications in next-gen sequencing. While there will be some discussion of the pros and cons of competing technologies (single-molecules, nanopores etc), this panel won't get mired in technical details; the audience will be more interested in bigger questions around killer apps, genome interpretation and future applications. The panel will discuss questions of whether we will soon reach the $1k (or even $100) genome, the relentless hype of nanopore sequencing, and whether or not universal newborn screening is inevitable.

Speaker: Nikesh Kotecha, Ph.D., CEO and Co-founder, Cytobank Inc.

The promise of next generation therapies, drugs and diagnostics rely on the ability to selectively target pathways and cell subsets – increased selectivity can mean the difference between a broad therapy with significant side effects and a focused therapy that selectively targets diseased cells. Single cell technologies such as flow and mass cytometry are positioned to fulfill this promise but have been hampered by the analytics. Platforms such as Cytobank are overcoming this challenge and helping users understand biological systems controlling development and cell-cell interactions and thus enabling precise targeting of abnormal signaling to specifically kill diseased cells.

Speaker: Catherine Ball, Ph.D., Vice President, Genomics and Bioinformatics, AncestryDNA

Direct-to-consumer genomics has generated broad popular appeal, but at the same time has attracted criticism and controversy. Putting the power of genomics in the hands of a private citizen requires a friendly and approachable discussion of accuracy, precision, uncertainty and the evolving nature of scientific inquiry. AncestryDNA's genetic genealogy product allows us to explore strategies for communicating potentially sensitive or complicated topics to everyone.

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

Detection and monitoring of oncogenic mutations in cell-free urinary DNA opens the possibility of a new paradigm for a truly non-invasive method of individualized care for metastatic cancer patients, which would enable the quantitation of mutational tumor load and respective concordance to therapeutic responsiveness followed by detection of emerging genomic alterations underlying acquired resistance. Next-generation sequencing techniques enable monitoring of key driver mutations and resistance mechanisms using targeted gene panels.

Speaker: Ali Torkamani, Ph.D., Co-founder & CSO, Cypher Genomics

Accurate and highly automated analysis of genomic data for the identification is disease-causative variants is an essential component to the penetration of genome sequencing technologies into routine clinical practice. In this presentation, Dr. Torkamani will discuss computational methods for the identification of disease-causative mutations, with a focus on a suite of computational tools implemented in the Cypher Genomics platform for genome interpretation. We will discuss methods for molecular genetic diagnosis of known diseases as well as provide an example of the application of Cypher Genomics technology for the identification of novel disease causative genes.

Speaker: Guido Baechler, President and Chief Executive Officer, Singulex

Of the over 400,000 proteins in the human proteome, approximately 75% are present in levels that have been too low to detect or measure accurately. With the advent of ultrasensitive detection technologies such as Singulex’s proprietary Single Molecule Counting (SMC™) technology, clinicians and scientists now are able to detect previously undetectable biomarkers of diseases, improving patient care and accelerating drug discovery. Using the example of cardiac troponin I, we will discuss how a biomarker of acute CVD is being used to monitor high-risk patients and alter treatment. SMC has applicability in multiple disease areas and has the potential to replace high-cost nucleic acid testing.

Speaker: James Herman, M.D., Professor, Johns Hopkins Medical Institutions

Epigenetic is defined as heritable changes in gene expression not caused by difference in nucleotide sequence or genetic alteration. In the absence of disease, epigenetic changes define different the cellular phenotype of tissues, allowing cells to perform differing functions necessary for the function of these tissues and organs. While some disease states are associated with alterations of genetic sequence, for example cancer, in many diseases, sequence alterations cannot explain disease associated phenotypic variation. Even in cancer, the mutational changes can only be linked to some phenotypic variation, and much of the functional differences in this disease, as well as differences between individual cancers, is attributable to epigenetic alterations. Most studies of alterations in epigenetic regulation involve DNA methylation. Epigenetic changes in cancer serve as an alteration that can be used for cancer specific molecular detection, potentially of use in screening for cancer. In addition, specific changes in DNA methylation can be used to predict sensitivity or resistance to therapies given to patients with cancer.

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

The principles of systems medicine are transforming the practice of healthcare. As an example, the Institute for Systems Biology is undertaking a new wellness project to follow in a long-term longitudinal Framingham-like study 100,000 well patients where we will analyze genetic data, clinical chemistries, the quantified self measurements and special molecular and cellular measurements. These data will 1) provide the analytics for optimizing wellness and minimizing disease for each individual, 2) provide novel metrics for assessing wellness and 3) permit us to follow transitions from wellness to disease and back.

Speaker: Martin G. Reese, Ph.D., Co-founder, President and CSO, Omicia Inc.

Automatic annotation of DNA variants and integration of disparate data sources is just the first step in the eventual adoption of genomes into clinical practice. The next step is reducing this complexity into the very few actionable, clinically relevant findings. We developed VAAST, the first probabilistic disease prioritization methods specifically for whole genomes, in collaboration with the University of Utah. We integrate VAAST with our genomic medicine decision support platform Opal® (app.omicia.com) for the interpretation of individual genome data. We will discuss the interpretation of several selected exomes and genomes of affected individuals and family structures using Opal, and focus on the identification of mutations causing several highly penetrant diseases.

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

Only a very few drugs have been approved by the FDA with a companion diagnostic. All of these biomarkers are “driver mutations” in genes involved in signal transduction pathways and are tests for single analytes predicting the functional status of the drug target or pathway. There are no approved companion diagnostics for drugs that work through alternative mechanisms such as chemotherapy or immunomodulation. This presentation will discuss why so few biomarkers have been developed, why we have mostly failed to develop molecular profiles that predict drug response and how we can improve the development of biomarkers that will improve the outcome for cancer patients.

Speaker: David Nill, M.D., VP & CMO, Cerner

The effect of stress and related brain-based conditions on health and productivity is well recognized as a problem. Incorporation of meaningful health programs for the broad spectrum of elements that influence a healthy mind is challenging due to stigma, convenience, and lack of convenience to the individual. Cerner has implemented an approach across the full spectrum to help its associates and families achieve significant improvements in overall brain health. We will discuss how our approaches overcame the barriers that existed.

Speaker: Andrew Kasarskis, Ph.D., Vice Chair, Dept. of Genetics & Genomic Sciences, Co-Director, Icahn Inst. for Genomics & Multiscale Biology

Today we are swimming in big data relevant to the biology of health and disease. We have also experienced major advances in computing (e.g. processing power, storage, algorithms) that promise improved detection of medically actionable signal in that data. At Mount Sinai, we use scalable supercomputing for advanced quantitative analysis of massive and varied datasets that creates predictive models of heath and disease. We deploy this approach in diverse areas such as Personalized Cancer Therapy, integration of genomics with electronic medical records, and infectious disease surveillance.

Speaker: John Niederhuber, M.D., CEO, Inova Translational Medicine Institute

Early results from data freeze 4 of our recently completed genomic study of a cohort of clinically well characterized families with preterm live birth (<37 weeks gestation) has provided some early insights into risks for delivering less than a full term baby. Combinatorial and comparative analysis of preterm and full term genomic and clinical datasets (from >1,000 families) has been completed. Perturbations in networks involved in cell-cycle regulation, placental vascularization, cytoskeletal organization and other physiological process are significantly associated with preterm birth. Pathway analysis of maternal genomic data demonstrated significant differences in some genes and pathways (for example WNT7B) that have major roles in embryonic development and that could impact pregnancy outcomes.

Speaker: Ken Song, M.D., Chief Executive Officer, Ariosa Diagnostics

Non-invasive prenatal testing (NIPT) involves the analysis of fetal cell-free DNA in maternal blood to provide a safe and highly accurate means to assess the risk of fetal genetic conditions. NIPT has been quickly adopted in clinical practice since its introduction just a few years ago. While NIPT has some clear advantages over traditional prenatal testing methods, the rapid evolution has created some challenges as they relate to reimbursement and appropriate clinical use of this test.

Panelists: Marty Tenenbaum, Cancer Commons / George Demetri, Dana-Farber/Harvard / Vincent A. Miller, Foundation Medicine / Neil Schiffman, Lung Cancer Survivor / Edgar Staren, CTCA Medicine and Science

Cancer patients have benefited from the scientific and clinical development of targeted therapies. Yet, the highly individualized nature of cancer continues to challenge patients and their clinicians. This session will discuss the current state of personalized oncology and what we, as patients, clinicians, researchers and industry, can do collectively to improve each patient’s outcome.

Speaker: Rami Zahr, NGS Field Application Specialist, IDT

IDT provides a range of solutions for targeted next generation sequencing. Labs processing hundreds to thousands of samples can create highly uniform, custom panels using xGen® Lockdown Probes. The new xGen Acute Myeloid Leukemia (AML) panel is a predesigned set of Lockdown Probes that captures 260 genes identified by whole genome and exome sequencing of 200 patient samples. The AML panel can be used as stand-alone or customized with additional probes to detect other targets of interest.

Speaker: Ramesh Hariharan, Ph.D., Co-Founder and CTO, Strand Life Sciences

The $1000 Genome and the Million Dollar Interpretation" has been used to describe the time intensive and onerous tasks of data analysis, interpretation, and clinical reporting. By consolidating all relevant analytics, knowledge, and SOPs into a common platform, called StrandOmics, and honing this platform over a hundred patient cases in our clinical practice, we are moving towards making the $1000 interpretation a reality.

Speaker: Ken Kornman, DDS, Ph.D., Founder and CEO, Interleukin Genetics

Dental care is a substantial cost within the healthcare system, involving 500 million office visits annually and costs exceeding $100 billion, with routine preventive visits accounting for 76% of services. For the first time, in January 2014, insurance policies introduced risk-based preventive dental care, including reimbursement for the PerioPredict™ genetic test. These premium-reducing policies are based on a study of 5,117 patients, followed for 16 years, and stratified for genetic risk, smoking and diabetes to determine those not benefitting from a second cleaning (47%), and those who benefited from two (43%) or more (10%) cleanings, per year.

Panelists: Maureen Cronin, Celgene / Garret Hampton, Genentech / Mike Nohaile, Amgen / Steven Stein, Novartis

Personalized Medicine’ initially focused on single or minimal sets of biomarkers to identify patient responders to specific drug therapies. Identifying EGFR mutation profiles for TKIs, BRAF V600E mutations for vemurafenib or EML4-ALK translocation for cizotinib were heralded as major advances in tailored therapy. In reality, emerging science tells us these are exceptions, not the rule. This session will focus on building comprehensive molecular models of disease and exploring how mapping models of drug activity onto these models may give sustainable impetus to precision medicine. Effective therapeutic management will require understanding the patient status with respect to disease context.

Speaker: Maureen Cronin, Celgene / Garret Hampton, Genentech / Mike Nohaile, Amgen / Steven Stein, Novartis

Precision Medicine’ focuses on accessing collections of consented clinical specimens to gather disease associated molecular profiles. However, the true value of clinical specimens is defined by the depth of associated demographic and clinical annotation. Often clinical data is limited to “snap shot” data gathered when the specimen is collected. Longitudinal follow up dramatically enriches the value of clinical specimens since it provides many more dimensions of information about relationships among patient characteristics, disease disposition and therapeutic response. True progress in precision medicine depends on patients altruistically consenting to donate longitudinal information about their disease and therapy experiences.

Speaker: Alan Mertz, ACLA / Edward Abrahams, PMC / Andrew Fish, AdvaMedDx

This discussion will explore areas of agreement and disagreement regarding the regulation of molecular diagnostics and likely scenarios for the future.

Speaker: Paul T. Henderson, Ph.D., CEO, Accelerated Medical Diagnostics

Our mission is to provide personalized chemotherapy for cancer patients. We are developing PlatinDx, a diagnostic assay for predicting which patients will respond to platinum-based chemotherapy. Patients are given 1% of the therapeutic dose (a microdose), followed by quantitation of drug-DNA adducts in left-over biopsy tissue using accelerator mass spectrometry. This technology enables detection of drug uptake, drug-DNA damage and other phenotypic markers prior to initiation of chemotherapy. As a direct in vivo measure of the patient’s individual tumor susceptibility to specific chemotherapeutic agents, this predictive technology does not require patient or tumor genotype information or culturing of tumor cells.

Speaker: Robert Farrell, J.D., Chief Financial Officer, Biovest

BiovaxID, a tumor-specific cancer vaccine, improves duration of first complete remission in follicular lymphoma. Production of single-patient-specific vaccines such as BiovaxID raises complex manufacturing challenges due to their individualized nature. Classic biologics manufacturing typically requires adoption of highly uniform, large-scale, batch manufacturing; these systems remain completely unsuitable for personalized vaccine production. To meet this challenge, we developed single-use disposable bioreactor/purification systems for patient-specific protein production, adaptable chromatography systems to purify diverse autologous proteins, and highly adaptable robot control software for single-batch analytical testing and data analysis. Implementing these systems on a commercial-scale production line permits truly personalized cancer vaccine commercialization.

Speaker: Kenneth C. Fang, M.D., Chief Medical Officer & VP, Translational Research and Clinical Development, Indi

Lung nodules present a diagnostic challenge because of their frequent detection on CT scans, potential for lung cancer and anatomic location which makes performing biopsies difficult. Blood-based biomarkers represent the circulating reservoir of systemic cell signaling interactions involved in the pathogenesis of diseases such as cancer. Proteins are attractive as biomarkers since they are the dynamic, functional molecules acting in cell communications, but those of interest are often in low abundance in protein-rich plasma. Indi has applied advanced mass spectroscopic and bioinformatic strategies to develop a non-invasive, proteomic molecular diagnostic test for the early diagnosis of benign indeterminate pulmonary nodules.

Speaker: Ruth L. Katz, M.D., Professor, Department of Pathology/Cytopathology, Division of Pathology and Laboratory Medicine, MD Anderson

Development of assays for circulating tumor cells (CTCs) offer new opportunities to provide minimally invasive techniques to screen, diagnose, and monitor cancer patients. This session will provide an overview of different methods for isolating CTCs, emphasizing lung cancer, and discuss how they may be used in cancer patients.

Speaker: Evian Gordon, BSc, Ph.D., MBBCh Chairman and CEO, Brain Resource

Current approaches to brain-based wellness, addiction, depression and ADHD focus on qualitative measures and trial and error treatment selections. Brain Resource has developed biometrics (such as heart rate variabilty to decrease stress by boosting vagal tone and wellness) and the first tests to predict treatment response in depression (currently being evaluated by the FDA). A standardized and integrative methodology and international database underpins these products. An on-line cognitive assessment and brain fitness 'games that build skills', are currently being used by numerous U.S. addiction clinics. These clinics exemplify the need being filled by evidence based "Know and Train Your Brain" solutions. Similar use by depression and ADHD clinicians, pharmaceutical companies and insurance companies are being explored.

Speakers: Ira Klein, Aetna / Sean Tunis, Center for Medical Technology Policy / Bill McGivney, McGivney Global Advisors / Rina Wolf, XIFIN / Deneen Vojta, UnitedHealth

The application of molecular analyses to guide patient management is now a key component of cancer care. Medicine is working to keep up with the scientific advances, evaluate them, and add molecular tests to guideline and pathway recommendations. The coverage/reimbursement world is working to determine how this emerging, important area should be managed. This session will provide a primer on the basics of coverage and reimbursement and then discuss issues regarding the clinical applications and coverage of molecular testing, evidence thresholds for achieving coverage, reimbursement from both private and public payers, etc.

Speaker: Prahalad Achutharao, Founder & CEO, InterpretOmics

Earlier biology experiments were hypothesis driven; however, NGS changed this to "Hypothesis creating experiments” and more importantly NGS data offers researchers the ability to ask important biological questions that were not possible before. While the cost of sequencing is reducing dramatically; the cost of analysis and interpretation of this huge volume of genomic data is on a reverse trend because of the fact that this Big ‘genome’ Data requires an inter-disciplinary team of experts from statistics, computing, bioinformatics and biology to come together to mine for insights that can be disseminated to scientists developing cutting-edge applications in disease research and management, corp management and energy management. This talk will discuss the importance of such an inter-disciplinary science and integrated genomics approach to various NGS data analysis.

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

In the swirl of information in healthcare and genomics today, a disproportionately small amount has been applied to management and discovery around chronic disease, despite an increasing majority of our healthcare dollars being spent on chronic disease. Patient engagement and data, wearable device streams and genomic/proteomic data are at the core of the big data value proposition in chronic disease. Advances in technology are enabling a hybrid approach which is proving essential to bringing patient-sourced data together with clinical and genomic data and yielding advances for patients, clinicians, industry, and research in this challenging area of medicine.

Speaker: Alexander Kaplun, Ph.D., Field Application Scientist, BIOBASE

To address the challenge of screening patient genomes for actionable variants, we have developed a manually curated database of pharmacogenomic variants reported in the peer-reviewed scientific literature. Serving as a comprehensive resource for all variants that have demonstrated significant impact on drug response in patients, the database provides rich and structured supporting information for these associations, including genomic location and sequence changes, resulting phenotype, drugs administered, patient population, disease context, statistical significance, and a link to the original reference. The database is available through an online search interface which enables quick access to both single variant queries and advanced search applications, or for download for integration into existing tools and data processing pipelines.

Speakers: Fred Lee, Oracle Health Sciences / John Jay Gargus, UCI / Richard A. Leach, Complete Genomics / Dennis Wall, Stanford University

The digitization of medicine and biology have yielded substrates of “big data” that have enabled the personalized transformation of fields such as oncology, by redefining cancer at the molecular level. This same ability to redefine disease with “big data” is now being applied to disorders of the nervous system and mental health, fields that have long struggled with disease classification and nosology. In this session, we will learn how big data analytic techniques are redefining neurologic and behavioral illness both at the phenotypic and the molecular level, as yet another example of the burgeoning personalized transformation of healthcare.

Speaker: James Yee, M.D., Ph.D., Chief Medical Officer and EVP, XDx

AlloMap is XDx’s pioneering product based on gene expression profiling of RNA extracted from peripheral blood. This talk will share the journey of evolving AlloMap® test utilization to assist the long term management of heart transplant recipients and the emerging roadmap for future personalized diagnostic products that may enhance the outcomes of other solid organ transplant recipients. AlloMap has progressed from product concept through candidate gene discovery, test development and validation, and landmark clinical comparative effectiveness studies. The lessons learned in addressing the unmet needs in organ transplant patient management include the perspectives of payers and regulatory agencies as well physicians and patients.

Speaker: Hanlee Ji, M.D., Medical Oncologist, Hematologist / Oncologist in Stanford University

Cancer’s complexity is evident by its sheer breadth of somatic genetic errors that occur during tumor development and progression. Successfully implementing cancer precision medicine will require systematically deconvoluting these cancer genetic aberrations to extract clinically relevant information; this will require understanding these genetic errors in the context of spatial, temporal and clonal admixture changes. Highly sensitive, specific and innovative technological and computational approaches will be required for measuring multi-dimensional genetic states from cancer patients. This will involve the analysis of cancer as it clinically progresses. The results of such studies will have enormous impact on the future of cancer medicine and our patients.

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

Genetic testing in patients with malignant cardiac arrhythmias can focus personalized management on the underlying cause. In the neonatal setting, the ability to rapidly identify the underlying cause of a malignant arrhythmia can be potentially lifesaving. In this talk, I will outline recent approaches to rapid genome sequencing and interpretation at Stanford hospital and clinics and give examples from patients admitted to the neonatal intensive care unit at Lucile Packard Children’s Hospital.

Speaker: Debrah Thompson, Ph.D., Senior Fellow and Project Head of EdgeSeq, HTG Molecular Diagnostics

HTG Molecular’s EdgeSeq system is a targeted RNAseq method that pairs our extraction-free, high-specificity Edge Chemistry with the high sensitivity and dynamic range of next-gen sequencers. EdgeSeq’s approach to targeted RNA sequencing greatly simplifies the workflow, bioinformatics, and data analysis of traditional RNASeq, while the extraction-free workflow obviates the need for RNA extraction, so library prep is fast and truly simple even for difficult-to-access tissues such as formalin-fixed paraffin-embedded (FFPE) specimens. EdgeSeq enables quantitative analysis of miRNA and mRNA targets from very small samples with virtually unlimited multiplexing options. The solution is ideal both for laboratories seeking next-gen applications with improved workflow and throughput while minimizing manual intervention and for clinical applications requiring expression-based analysis from small amounts of patient tissue.

Speaker: Barrett Bready, Ph.D., President and CEO, Nabsys

DNA sequencing technologies have advanced at an impressive rate over the past decade. However, the short read lengths relative to the sizes of the genomes being analyzed and the distinctly non-random and repetitive nature of those genomes means that structural information is often lost and genomes cannot be correctly assembled.

The Nabsys platform uses semiconductor chips to electronically read intact ultra-long molecules (>100 kb). The length of the molecules combined with the system’s high resolution, provide enough information in each read to detect structural variation and allow for the assembly of genomes, thereby complementing short-read technologies.

Speaker: Eric D. Green, M.D., Ph.D., Director, National Human Genome Research Institute

The Human Genome Project was a landmark scientific achievement that started to build a foundation of genomic knowledge for tackling increasingly complex biomedical problems. To exploit these opportunities and ensure the productive growth of genomics as a vital biomedical discipline of the 21st century, the National Human Genome Research Institute is pursuing a broad vision for genomics research. This vision includes using genomic data, technologies, and insights to acquire a deeper understanding of genome biology, to uncover the genomic basis of human disease, and to establish how best to apply genomics for clinical care.

Speaker: Vincent A. Miller, M.D., Chief Medical Officer, Foundation Medicine

The field of oncology has recently experienced a paradigm shift toward thinking about cancer as a disease of the genome. Our understanding of cancer biology has been furthered through the use of NGS to characterize the genomic alterations in an individual patient’s cancer. Once a tool used only in research, we have overcome the key scientific and clinical challenges to develop a comprehensive profiling approach utilizing NGS to enable precision medicine in clinical cancer care. Widespread use of this approach could provide more treatment options and enable more rapid accrual to trials targeting pathways under study, continuing to accelerate the field of precision medicine.

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: Daniel A. Schwarz, M.D., MROC, Executive Director of R&D, Proove Biosciences

Pharmacogenetic (PGx) testing of CYP variants guides medication dosing or changes across multiple systems and specialties, while PGx testing of central nervous system (CNS) receptor and transporter genes guides psychiatric evaluation and treatment.

Proove has pursued clinical protocols evaluating PGx testing of CYP and CNS variants in chronic non-cancer pain patients. Our data illustrates increased PGx variants within the CNS mesolimbic pathway (Narcotic Risk Index) show a significant correlation with prescription opioid abuse and co-occurring disorders. Objectively determining the risk of potential opioid abuse and previously undiagnosed co-occurring disorders should enhance early diagnosis and treatment, while providing cost effective healthcare.

Speaker: Michael Ball, CEO, GenoLogics

Over the past 5 years, new genomics technologies have allowed clinical genomics to become a reality. At the same time, user interaction design, mobile enablement, and cloud computing have all made significant advancements. So, why has the LIS/LIMS industry lagged behind? The next generation clinical laboratory deserves a new paradigm in systems that utilizes the latest advancements in both software and genomics technologies. Such a system must be simple-to-use and quick to deploy, even in the face of high complexity tests with short turn around times. In this presentation, lessons learned from implementing a next generation LIS/LIMS in clinical labs will be discussed.

Speaker: Mike Pacanowski, Pharm.D., Associate Director, Genomics and Targeted Therapy, FDA

Pharmacogenomic studies are increasingly being performed in drug development programs to characterize sources of variable pharmacokinetics or responses, and to develop companion biomarkers that guide drug use. Over the years, the U.S. FDA, EMA and other agencies have provided guidance to industry on data submissions, development of diagnostic tests, and the use biomarkers in specific therapeutic areas. This presentation will focus on recent FDA guidance regarding early-phase approaches to develop personalized medicines and the potential implications for subsequent drug development.

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

During the past decade, the biology of cancer has been elucidated through increased understanding of the diversity of pathways that drive cancer growth and metastasis. A parallel explosion of targeted therapy options is now facilitating the precision by which clinicians can tailor therapy to individuals. This presentation will highlight the intersections of new biology and therapy options in breast and colon cancer and how these are challenging long standing traditional paradigms of care for the betterment of patients and health system value.

Speaker: Stuart Grieve, MB BS, BSc, DPhil(oxon), Dir. of Imaging, Charles Perkins Centre & Brain Dynamics Centre

The iSPOT-D study aims to look for biomarkers that can predict outcomes from treatment with common anti-depressant medications (ADM). There are currently no clinically useful pre-treatment measures can guide choice of therapy in depression. Using functional and structural MRI we have characterized key abnormalities that distinguish a depressed state, including network level maps of abnormal connectivity involving the amygdala, anterior cingulate and prefrontal cortex. Using this data we have developed novel MRI metrics that can not only predict response/remission in depression, but can also identify individuals that will not remit to ADM treatment with a high degree of sensitivity.

Panelists: Jonathan Hirsch, Syapse / Sasha Wait Zaranek, Harvard Personal Genome Project / Somalee Datta, Stanford Center for Genomics. Moderator: Theral Timpson, Mendelspod

Bioinformatics is booming. Newly developed tools are unleashing a gazoogabyte of data: NGS, ChipSeq, gene expression. Every week new platforms make it possible to gather, store, analyze and report biological data. The challenges grow as you add the need to combine this data with personal medical records, disease registries, and other healthcare databases.These challenges present a great opportunity to coordinate and aggregate all the data. Are we moving toward a new “utility,” a new streamlined infrastructure, an internet for healthcare data. In this discussion we will ask what kind of platform will be the Google or Amazon of bioinformatics.

Speaker: Daniel S. Grosu, M.D., Vice President, Clinical Development & Medical Affairs, Illumina, Inc.

The development of next-generation sequencing (NGS) technologies has made sequencing not only rapid and cost-effective, but also highly accurate and reproducible. These advances have increased the utility of NGS in clinical settings, with applications ranging from the identification of rare diseases to the detection of chromosomal abnormalities in maternal-fetal medicine. Deep sequencing and circulating free tumor DNA in the oncology space is also trending toward clinical utility. Regulatory clearance of NGS-based platforms and approval of clinical assays utilizing NGS technologies are also central to the widescale implementation of NGS in personalized medicine.

Speaker: Amir Onn, M.D., Director, Center of Pulmonary Oncology, Sheba Medical Center

Lung cancer has an extremely low 5-year survival rate compared to many other cancers. This session will discuss current approaches to lung cancer treatment, including the use of molecular testing to guide treatment for newly diagnosed patients and personalized medicine protocols for patients who have progressed beyond standards of care.

Speaker: Paul Billings, M.D., Chief Medical Officer, LIFE Technologies

Life Technologies has developed a comprehensive CDx Partner Program for co-development of CDx assays. Our collaborative services begin with biomarker discovery and are available all the way through IVD development, regulatory approval and global commercialization. We offer a wide breadth of research and IVD platforms that span preclinical work through CDx commercialization.

Speaker: John E. Steiner, Chief Compliance & Privacy Officer & Associate General Counsel, CTCA

* Patient eligibility criteria / Pre-admission and pre-certification for treatment

* Coverage Determination processes used by payors

* Reasons for coverage denial decisions (e.g. investigational/experimental)

* Advance Beneficiary Notice Procedures

Speaker: Alan F. Schatzberg, M.D., Professor, Department of Psychiatry & Behavioral Sciences, Stanford University

Prediction of antidepressant response has been a focus of considerable research with emphasis on genetic variation to predict response or side effects. Replication of findings has been lacking such that clinical application is limited. Researchers have argued that major depression is too broad a diagnosis, and response is difficult to discern in placebo-controlled trials, making it less likely to find response predictors. We will present data on an approach in which cognitive measures are combined with genetic markers to develop predictors within a more homogeneous subgroup of patients with major depression. The approach opens avenues for developing better predictors of response and personalized treatment of depression.

Speaker: Amir Dan Rubin, President & CEO, Stanford Hospital & Clinics

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

Speaker: Yona Barash, M.D., FACS, Surgical Oncology and General Surgery

· Prevalence of Lynch syndrome

· Methods for identifying at risk individuals

· Clinical features and medical management options