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.
Speaker: Kim Popovits, Chairman, CEO & President, Genomic Health
Cancer is the ideal focus for demonstrating the promise of precision medicine. Realizing this promise requires the coordinated effort of many stakeholders to define the evidence and value based standards needed to guide clinical practice, change standard of care and ultimately gain adequate reimbursement to support patient access and innovation.
Speaker: Peter Paul Yu, M.D., President, ASCO
The accelerating speed of advances in systems biology and molecular testing has outpaced the ability of clinical health systems to absorb and learn how to utilize these advances to promote human health. Molecular diagnostic tests must adhere to the concepts of analytic and clinical validity and clinical utility. Computational algorithms that lack transparency or that may be altered without validation pose significant risks to patients. Both sophisticated data architecture and new models of data representation are required to be designed and implemented in order to take advantage of our rapidly advancing knowledge bases. Molecular tumor boards and other clinical decision support tools will speed the dissemination of knowledge on use of targeted therapies. Furthermore, new regulatory mechanisms are needed to identify early signals of efficacy in the off label use of targeted drugs and guide industry in the prioritization of clinical trial targets.
Speaker: Haim Gil-Ad, CEO & Co-founder, NovellusDx
NovellusDx developed the “Precision Cancer Analysis™ System to provide actionable intelligence about cancer cell mutations and the microenvironment that will help oncologists choose the right targeted therapies for each patient. The company’s platform provides comprehensive oncogenic activity profiles of individual patient tumors. This includes the full landscape of known and unknown mutations that drive a cancer’s progression, as well as the hierarchy of driver mutations and their crosstalk. By measuring the activity of signaling pathways within a tumor, the test can assess the oncogenic activity of mutations and their response to targeted drugs for every patient individually. Dozens human case studies performed in NovellusDx’s CLIA lab demonstrate that the company’s platform generates more actionable information than NGS. In addition, biopharma companies and researchers are using the Precision Cancer Analysis™ System to identify expanded subgroups of cancer patients who are likely to respond to existing therapies, stratify patients to enable more focused and efficient trials and isolate new mutations to target.
Speaker: Haim Gil-Ad, CEO & Co-founder, NovellusDx
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: Eric D. Green, M.D., Ph.D., Director, National Human Genome Research Institute
Starting with the launch of the Human Genome Project, the past quarter-century has brought spectacular achievements that empower greatly the study of human disease. Most notably, advances in genomics, innovative technologies for measuring environmental and lifestyle information, electronic health records, and data science provide opportunities of unprecedented scale and scope to investigate the underpinnings of health and disease.
In January 2015, U.S. President Barack Obama announced a major new research endeavor— the U.S. Precision Medicine Initiative. This bold effort will be framed around several key aims, which include accelerating the use of genomically informed approaches to cancer care, pursuing a number of important policy and regulatory changes, and establishing a very large research cohort of >1 million individuals to facilitate precision medicine research. The latter will include making the partnership with all participants a centerpiece feature of the cohort’s design and development.
The Precision Medicine Initiative represents a broad-based research enterprise that will allow new approaches for individualized medical care to be rigorously tested, so as to establish a new evidence base for improving clinical practice and, eventually, human health.
Speaker: Clive Brown, Chief Technology Officer, Oxford Nanopore
Nanopore sensing has the potential to play a major role in future medical and other industrial applications; from personalised genome sequencing, to sensing biomarkers in blood, to sensing directly from the environment, home, field and factory. This talk will show the latest scientific developments in nanopore based measurement, and also illustrate its existing and near future potential.
Speaker: Sir Rory Collins, FRCP, FMedSci, Chief Executive, UK Biobank (Oxford)
UK Biobank has been set up to allow reliable assessment of the relevance of a very wide range of different types of exposure to a very wide range of different diseases, not just those that kill or are cancers (which have been extensively studied) but also many other conditions that cause much disability (such as dementia). Enrolment of 500,000 men and women aged 40 to 69 was achieved during 2006-2010. Detailed questionnaire, interview and measurement data were obtained, and multiple samples of blood, urine and saliva stored for analysis. Activity is now focused on further enhancing the phenotyping of the participants (including by genotyping and biochemical assays for all 500,000 participants, and multi-modal imaging of 100,000 of them) and on carefully characterising the disease outcomes being detected during follow-up by linkage to health-related records. The UK Biobank Resource is available (via the internet-based access system at www.ukbiobank.ac.uk) to international researchers (academic or commercial), without preferential or exclusive access, for any type of health-related research that is in the public interest.
Speaker: Stephan Beck, Ph.D., FMedSci, Professor of Medical Genomics, University College London (UCL) Cancer Institute
The Personal Genome Project (PGP) is the only public resource providing linked genomic, environmental and trait data under open access to accelerate and advance personal and medical genomics. I will present an overview of the growing global network of PGPs and discuss in more detail the vision of PGP-UK within the UK landscape of personal and medical genomics.
Speaker: Corina Shtir, Ph.D., Director of Population Genomics, Thermo Fisher
Personalized Medicine enables the convergence of information from the population to the individual level, that is necessary for making optimal decisions for screening of high-risk mutations, diagnosis, or optimal treatment, relative to an individual’s unique genetic architecture. Although this area continues to evolve, various solutions have already been generated, while others should progress as natural verticals from current platforms and in response to the alignment between community demands and scientific findings. We are now well positioned to develop strategically symbiotic solutions that produce time and cost efficient personalized care. Here, we provide a summary of clinical genomics measures within the spectrum of preventive, diagnostic, and treatment care, for rare and complex disorders, and for cancer therapeutic medicine, as implemented in national-scale programs such as the Saudi Genome Program, Stratified Medicine Scotland, US Million Veteran Program, and other community applications. These examples are based on the clinical and scientific research derived from an exhaustive process of investigation across all areas of expertise. We conclude with a short note on critical steps that need to be addressed in the near term, and the effect they will have on enabling individually tailored clinical genomics.
Speaker: Jonathan K.C. Knowles, Ph.D., Executive Chairman, Immunocore
Future significant progress in Medicine absolutely requires the implementation of a much more personalised approach to all aspects of biomedical research, clinical development and clinical practise. This requires the robust challenging of many of the current ways in which we generate and use patient and clinical data and the ways we use to define disease. While the importance of Precision and Personalised Medicine is now widely accepted by most stakeholders, the practical implementation for patient benefit is still proving very challenging. Different approaches to these challenges will be illustrated with reference to cancer, cardiovascular diseases and the CNS, and the central importance of pilot studies to demonstrate cost effectiveness in different health ecosystems will be outlined.
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: Stefan Roever, Co-founder & CEO, Genia Technologies
As the genomics community pushes toward the $1,000 genome, nanopore sequencing has the real promise of reducing costs, to a point of driving routine genome profiling. Nanopore-based single molecule sequencing technology provides long read capability, reduces the price of sequencing, increases speed and has the potential to improve the lives of people in a variety of applications. These applications include the diagnosis of cancers and infectious diseases, non-invasive prenatal testing, matching the right drug to the right patient (PGx) and identification of genetic diseases. In this talk, I will walk you through this rapidly evolving technology and how it can shape the personalized medicine landscape.
Speaker: Frank S. Ong, M.D., Sr. Director of Medical Affairs, 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: Steve Picton, Ph.D., Director, Business Development-Europe, Pacific Biosciences
Characterization of human genomes and genetic variation has been dominated by short-read sequencing technologies; many important insights have been gained through this application. However, structural genomic variation plays important roles in many disease and has been more difficult to resolve because of read length limitations. I will highlight research by the scientific community applying long-read sequencing to resolve genetic variation across 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: Robert. Klein, Ph.D., Chief Business Officer, Complete Genomics, Inc.
The promise of genomic medicine was clear since the first human genome was sequenced over a decade ago. The intervening years has seen exponential increases in the ability to sequence and analyze genomes. At present, Complete Genomics, along with others, can sequence a human genome at a price point that is within the range for a diagnostic test. However, the data directly demonstrating the benefits of whole-genome sequencing within broad patient cohorts is lacking. I intend to describe our efforts to bring whole-genome sequencing into broad clinical use.
Speaker: Ketan Patel, Ph.D., Healthcare Solutions Consultant, Oracle Health Sciences
All around the world there is an explosion of large genomics projects collecting the genomic data of several thousands of individuals. The genomic data when integrated with clinical phenotypic data from electronic medical records and deep phenotyping will yield a large dataset of genotype-phenotype data. In this talk we highlight some of the challenges of scale in developing datasets of this size and how the integration and query of these vast datasets will yield new insights into the molecular basis of disease. We will provide some examples of large scale projects which are happening today, and how the data is being stored, integrated and analysed.
Speaker: David R. Bently, DPhil, FMedSci, Vice-President & Chief Scientist, Illumina Inc.
Advances in DNA sequencing technology are about to transform healthcare. Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold improvement in the rate of sequence data generation (bases/day/instrument). As a result, it is now possible to decode a person’s genome and return the annotated sequence for biological and clinical interpretation in a few days. Current research is focussed on refining methods for sequencing real-world clinical samples, refining variant calling, improving annotation and reporting, and in developing process workflows to enable whole genome sequencing at a national scale. Early applications of clinical whole genome sequencing include detection of mutations in patients suffering rare genetic disease or cancer. Aggregation of individual genome sequences alongside clinical and other phenotypic information will create an integrated knowledgebase that underpins a new era of genomic medicine.
Speaker: Sally John, Ph.D., Vice President, Computational Biology and Genomics, Biogen Idec
Rapid advances in next generation sequencing technologies and quantitative sciences continue to allow the generation of detailed genetic, genomic and phenotypic data at an unprecedented scale, speed and quality. These novel discoveries in human genetics allows us a much more in depth characterization of how human molecular variation underpins health and disease in a way that has not previously been possible. We are therefore have a unique opportunity to discover and develop new medicines based on compelling evidence from human biology systematically, allowing the human to serve as our primary animal model and to use this as a foundation to match the right treatment to the right patient. This talk will focus on how an improved insight into human genetics can inform the selection of validated targets, support the identification of mechanistic biomarkers and inform efficacy and potential safety signals. The talk will be illustrated with examples that span the life cycle of a medicine from early discovery to marketed product.
Speaker: Dirk J. Evers, Ph.D., SVP Alliance Management, Molecular Health
Next-generation sequencing and other high-throughput technologies are creating a wealth of opportunity in the treatment of disease, providing a more profound understanding of a patient’s status and offering the hope of a more efficient and effective treatment. With the fast progression of medical and biological knowledge comes the challenge of being comprehensive and up to date; with high-throughput technologies the challenge of storage, processing speed, complexity, and accuracy; with multiple tests the challenge of disagreement, impedance mismatch, combinatorial explosion, and effective closure. How can we trust all this complex data?
Speaker: Mike Standing, Partner, Monitor Deloitte
Precision medicine holds the promise of significant improvements in both patient outcomes and treatment experience. However, realisation of this promise will require a whole system change in clinical care, systems, processes, behaviours and incentives of multiple stakeholders. These changes will involve providers of care, academic institutions, pharmaceutical manufacturers, diagnostics manufacturers and regulators. Based on models of innovation and adoption, Mike will consider the actions that key stakeholders will need to take to implement precision medicine. The intrinsic characteristics of precision medicine and the choices made will determine both the scale and rate of adoption of precision medicine.
Speaker: Munir Pirmohamed, M.D., Ph.D., NHS Chair of Pharmacogenetics, University of Liverpool
The response to drugs varies in almost every therapeutic area. Variability in efficacy leads to drug wastage and delay in appropriately treating patients, whilst adverse drug reactions lead to unnecessary morbidity, and on occasions, mortality. Knowledge of the pathways by which a drug is handled by the body, and how it interacts with drug targets in the body, when used together with knowledge of disease sub-phenotypes, will be needed in optimising the benefits of drugs used in patients. A variety of approaches starting off with a deep phenotype, and integrated with genomic (and other omic) approaches will be needed for success. The talk will be illustrated by several examples, highlighting the opportunities but also the challenges in realising the benefits of personalised medicine.
Speaker: Sebastian Wernicke, Ph.D., Managing Director, Seven Bridges Genomics
Between 2014 and 2018, the production of new genomic sequencing data is expected to exceed two Exabytes. Effective mining of this data will be the key to detecting new genetic variants that enable precision medicine. Current approaches, however, are too compartmentalised and won’t scale to these demands. Using the U.S. NCI cancer genomics cloud and the UK 100k genomes project as examples, this talk will explore potential solutions to deal with a future in which we sequence millions of human genomes on an (almost) routine basis.
Speaker: Cameron Frayling, Founder and CEO, Base4
Over the past three years, Base4 has produced a series of innovations which will allow high-throughput, long read length, single-molecule DNA sequencing to be carried out from a low cost sequencing platform. These innovations include a method of releasing nucleotides in order from long fragments of DNA and a completely novel chemistry for reading them out. This talk will cover Base4’s powerful nucleotide detection chemistry and an overview of its sequencing technology.
Speaker: Niven Narain, Ph.D., Co-founder, President and CTO, Berg Health
The new age of medicine has ushered a unique fusion of technology and clinical medicine to engage the patient experience in a much more dynamic and interactive manner. The completion of the Human Genome Project induced a renaissance of genomics and most recently other “omics” platforms to provide a lens into a sea of unknown biological elements linked to disease causality. The Berg Interrogative Biology™ platform takes an omics-based, data driven, agnostic approach to applying Bayesian AI to robust patient-specific biological cohorts so that the hallmark, molecular drivers of a disease state can unravel the actionable areas of biology most relevant for therapeutic and diagnostic development. Harnessing the power of technology to allow the patient biology to inform the direction of patient care will drive the future of healthcare.
Speaker: Daphna Laifenfeld, PhD, Director, Personalized Medicine and Pharmacogenomics, Teva Pharmaceutical Industries
Personalized Medicine approaches harness orthogonal lines of investigation and provide a holistic characterization of pharmaceutical agents and their therapeutic effects in the various segments of the treated population. Many different scientific questions must be addressed in order to generate appropriate recommendations for the right patient, the right drug, the right dose at the right time. To this end, Teva employs a full suite of Personalized Medicine approaches throughout its innovative and generic pipeline so as to optimize the benefit/risk profile of treated subjects. To this end, examples of relevant scientific questions and approaches to elucidate them will be discussed, focusing on diseases of the central nervous system.
Speaker: Peter Donnelly, FRS, FMedSci, Director of the Wellcome Trust Centre for Human Genetics, Oxford University
Genomic information has great potential to impact on the practice of clinical medicine. Large-scale clinical sequencing projects in the UK and elsewhere are moving that promise closer to reality. A major obstacle remains data analysis. Calling variants from Illumina or other short-read sequence data is not yet a solved problem, much less the clinical interpretation of genome sequences.
Genomics plc, a spin-out company from the University of Oxford, was founded by Peter Donnelly and Gil McVean to provide robust cutting-edge genome analysis tools which can work at the scale required to empower the genomic revolution. The talk will describe Genomics’ platform, and give a sense of the tools available and under development, as well as our work with major pharma companies to use genomic information to improve drug development pipelines.
Speaker: Anne Wojcicki, CEO and Co-Founder, 23andMe
The foundation of personalized medicine is genetics. Genetics impact our health but should also inform it. Providing individuals with access to their genetic information offers a chance to uncover more about health risks, traits or conditions that can be passed on to children and what types of drugs are most effective (or not). These bits of information give people a chance to learn more about themselves. This information is unique to every individual. And while unique, this data also has the power to help uncover genetic insights that could lead to scientific breakthroughs or treatment discoveries.
23andMe was built on this belief and as the company has grown, so has the power of its research. It is nearing one million customers. But if not for the genetic information contributed by every single individual, 23andMe would not have the opportunity to further research at this speed and scale.
Speaker: Vijay Chandru, Ph.D., FASc, FNAE, Chairman & CEO, Strand Life Sciences
The rapid adoption of genomics and personalized medicine is globally challenged by the cost of expertise in the interpretation of genomic variants found by NGS methodologies today. Strand Life Sciences is a genomic profiling company using NGS and a proprietary "sample to reports" pipeline which has addressed this challenge head on.
A 14 year old company employing over 200 scientists, Strand is a powerhouse in bioinformatics that has given you platforms such as GeneSpring and Strand NGS. Strand's comprehensively curated knowledge-base of genomic variants linked to phenotypes, therapies and clinical trials is embedded in a productivity enhancing platform called StrandOmics which has generated over a thousand clinical reports in somatic and germline oncology tests as well as clinical exomes for inherited and rare disease diagnosis.
These innovations in technology and knowledge capture have been necessitated by the challenges of delivering personalized medicine solutions to the self-paid, low-cost healthcare system in India. As a consequence, Strand is now positioned to bring affordable personalized medicine to the world.
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