Registration & Breakfast Buffet

Welcome and Opening Remarks

Dawn Barry, MBA, President & Co-Founder, LunaDNA – Chair – The Precision Medicine Leaders’ Summit – West

Nigel Russell, Founder & President, The Journal of Precision Medicine and the Precision Medicine Leaders Summits.

Keynote – Precision Medicine: Complexity Beyond Simple Mutations

John Quackenbush, PhD, Henry Pickering Walcott Professor of Computational Biology and Bioinformatics, Chair, Department of Biostatistics, TH Chan School of Public Health, Harvard University

Early successes in precision medicine were driven by identifying, and targeting, single genetic variants exhibiting large biological effects. However, we are increasingly coming to recognize that disease phenotypes, including response to targeted therapies, involve a much more complex landscape of genetic and other factors. Embracing this complexity, and developing new predictive methods, is necessary if we are to make continued advances and extend effective predictive medicine beyond oncology.

Standardizing Cancer Immunotherapy Diagnostic Assays: The Medical Imperative, the Challenges, and a Roadmap to Optimizing Delivery of Precision Medicine

Host: Karen Gutekunst, PhD, Vice President Regulatory Affairs, Illumina

Steven Averbuch, MD, Principal, S D Averbuch Consulting LLC

The application of Precision Medicine for the treatment of cancer is well established across multiple therapeutic classes including endocrine, targeted small-molecule, antibody-directed and immunotherapy.  The benefit of Precision Medicine to identify an individual cancer patient that will likely respond to a selected cancer therapy is inextricably linked to a chain of events from specimen to in vitro diagnostic (IVD) to interpretation and a report that leads to an optimal therapeutic decision and action.  Any error, deficiency, or even expected variance in the diagnostic chain of events may lead to an ambiguous or “wrong” result, with a subsequent inappropriate therapeutic choice and harm to the patient.  The increasing number of cancer IVDs, the rapid advances in diagnostic technology, and the inherent biological heterogeneity of advanced cancer all contribute to an uncertain environment where the chance of getting it “wrong” for the patient is increased.  Thus, there is a medical imperative to create the highest standards for cancer IVDs that are adopted and widely available to patients.  This presentation will highlight immunohistochemistry and next generation sequencing IVDs for novel cancer immunotherapeutics to illustrate the challenges, recent efforts, and a future roadmap for providing consensus high standard Precision Medicine to cancer patients.

David Spetzler, MBA, MS, PhD, President and Chief Scientific Officer, Caris Life Sciences

We stand on the brink of a profound technological advancement that can deliver unprecedented improvements to humanity by enabling the treatment of malignancies that have historically proved fatal and untreatable. To achieve this lofty goal, we, the scientific community, must mandate and ensure that the data produced is of the highest quality and able to be compared across labs and providers. With the ability to measure unprecedented numbers of genomic and transcriptomic variables comes an enormous risk of false discovery and misinterpretation that can lead to improper treatment and suboptimal patient care. To guard against this, data must be comparable and consistent, requiring standardization of preanalytical variables, nomenclature, and metrics. The inherent complexity of NGS requires that assay metrics be monitored beginning with tissue procurement, ischemia time, fixation time and conditions, tumor percentage, gene coverage, input, hyb efficiency, q-scores, PCR dup rate, calling models and interpretation. There are no standards that exist today, and thus comparison of results across labs and assays is impaired to the detriment of patients. These deficiencies make comparison of univariate biomarkers challenging, but also impede the application of advanced machine learning modalities to find multivariate signatures that can improve and customize therapeutic strategies.

This session will consist of two presentations lasting 15-20 minutes followed by a fireside chat with Dr. Averbuch and Dr. Spetzler.

Opportunities to Advance Precision Medicine with Blockchain Powered AI

David Houlding, MSc, CISSP, CIPP, Principal Healthcare Lead, Industry Experiences, Cloud + AI, Microsoft Corporation

AI is the powerhouse translating the growing tsunami of healthcare data near real-time into actionable insights, empowering healthcare professionals to improve patient outcomes, reduce healthcare costs, and even improve patient engagement and experiences. However, AI and ML are data hungry, and good models with low error rates, which are paramount in healthcare where patient lives are at stake, require hundreds of thousands if not millions of high quality patient data records to train precision medicine models from. Exacerbating this challenge is the fact that, while the required volumes of data do exist across the healthcare industry, data is mostly isolated across silos within healthcare organizations with little or no sharing, and as a result most AI initiatives draw data from just a single organization or silo with limited success, stunting the potential of AI in precision medicine. What if where was a way for a consortium of healthcare organizations to collaborate on AI for precision medicine, rather than each organization “going it alone”? Blockchain is designed to enable secure collaboration and sharing of data across a consortium. In this session we discuss opportunities for blockchain to enable collaboration and sharing across a consortium of healthcare organizations, of training data, provenance information, models, results, validation of results, audit trails and more to power AI to the next level in precision medicine.

Coffee & Meet the Expert

Precision Medicine in Complex Disease: Leveraging Polygenic Models to Define Genetic Risk and Stratification Towards Improving Prevention, Diagnosis, and Effective Treatment

Moderator: Christina Waters, PhD, MBA, President, CEO and Founder RARE Science, Inc

Panelists: Julie Collens, PhD, CEO & Founder, Vivid Genomics, Jessica Gibson CEO, Ariel Precision Medicine, Sally Howard, JD, Principal, Sally Howard Regulatory Resources, Jordi Serrats, PhD, Associate Director Neuroscience Drug Discovery Unit, External Neuroscience Innovation, Takeda

Thousands of variants, with varying effect, are responsible for the heritable variation we see in individuals.  It is the highly polygenic nature of these complex traits that compound challenges of realizing the promise of precision medicine.  In the field of oncology, stratification of patients based on polygenic risk scores (PRSs) is being used to improve screening and prevention.  Our panel will discuss current use of PRSs for clinical decision support in prediction/prevention, treatment and new therapeutic development outside the field of Oncology.  We will also delve into direct to consumer testing, regulation, reimbursement challenges and the future of PRSs in improving Precision Medicine for both common and rare disease.

The Health Economics of Companion Diagnostics and Laboratory Developed Tests

Moderator: Lori Anderson, XIFIN, Inc.

Panelists: Gabriel A. Bien-Willner, MD, PhD, FCAP, Medical Director, MolDX, Chief Medical Officer, Palmetto GBA, Trish Brown, Director; AMR Payer Partner and Field Market Access Lead, Illumina, Bruce Quinn MD PhD, Principal
Bruce Quinn Associates LLC,  Rina Wolf, VP Commercialization Strategies, Consulting and Industry Affairs
XIFIN, Inc.

Genomic testing is the fastest growing category of biomarker testing. Many laboratory developed genomic tests use next generation sequencing (NGS) as an approach to target numerous genomic variants with both proven and emerging evidence of clinical utility. However, the approach has resulted in uncertainty about appropriate use, interpretation, and value as health care providers and payors struggle to keep pace with the medical advances that NGS has enabled. The burden of evidentiary proof falls upon the test developers, but many labs do not have the resources, or the expertise required to perform the studies needed to establish clinical utility. This gap has created a conundrum for labs, providers, patients, and payors. This panel will discuss this important topic from the perspective of the test developer, laboratory, and payor.

LUNCH

Population-scale Human Genetics and Genomics for NASH Drug Target & Biomarker Discovery

Richard Williams, MBBS PhD, Global Head of Medicine, WuXi NextCODE

New drug targets & biomarkers are desperately needed for precision NASH therapy, monitoring & prevention.

In our global NASH discovery programs, we are (1) using whole genome sequencing (WGS) to compare thousands of patients with high fibrosis NASH, Low or No fibrosis NASH & NAFL, and population controls, and (2) interrogating hundreds of fresh liver biopsies from NASH & NAFL patients and control individuals with ‘bulk’ multi-omic genomic analysis (WGS, RNA-Seq, DNA methylation), single cell RNA-seq and fully-integrated AI to reveal novel disease biology, drug targets and biomarkers and enable precision medicine for liver disease.

Redefining The Role  for the Precision Medicine Clinical Laboratory

Moderator: Steven M Anderson, PhD, CSO – Covance, SVP LabCorp

Panelists: Paul Billings, M.D., PhD, CMO & SVP, Medical Affairs, Natera, Sean Glenn, PhD, Vice President of Clinical and Research Development, OmniSeq, Palani Palanippan, PhD, CTO, Epic Sciences Roseanne Welcher, PhD, MBA, CSO, Companion Diagnostics, Agilent Technologies

Coffee & Networking

Precision 20 –  Saudi Human Genome Program: Translating Discovery into Practice

Brian Meyer, PhD, Chairman, Department of Genetics Research Centre, KFSH&RC

The Saudi Human Genome Program (SHGP) has sequenced in excess of 40,000 samples, comprising approximately 25,000 gene panels targeting clinical categories of rare diseases and 15,000 whole exomes. Additionally, cohorts of samples have been processed for whole genome sequencing, tumor profiling and pharmacogenomics. The SHGP differentiated itself from mainstream genome projects around the world, by initially focusing on rare diseases which have a major impact in the healthcare of what is a highly consanguineous population. The SHGP targeted rapid translation of sequencing data to clinical practice and has demonstrated immediate impact for the diagnosis of rare diseases in a what was largely an unstudied population. The identification of more than 3,500 pathogenic alleles also provided immediate options for prevention of disease, through prenatal testing, pre-implantation genetic diagnosis and most importantly pre-marital screening. Validation of a custom microarray for pre-marital screening also highlighted opportunities within the Saudi population to apply this tool in newborn screening for early diagnosis and intervention in diseases such severe combined immunodeficiency, sickle cell disease, retinitis pigmentosa, some inborn errors of metabolism and others. In addition to the major impact of the SHGP in rare diseases, the knowledge database documenting normal variants and their frequency in the population has also facilitated tumor profiling and pharmacogenomics in the practice of precision medicine.

Alternative Non-Mutation Based Approach to the Early Detection of Cancer

Moderator: Nic Dracopoli, PhD, Chief Scientific Officer, Delfi Diagnostics, Inc. 

Panelists: Anne-Renee Hartman, MD, Vice President of Clinical Development & Medical Affairs, GRAIL, Hakan Sakul, PhD, Vice President and Head of Diagnostics, Worldwide Research, Development & Medical, Pfizer

Liquid biopsies have the potential to improve outcome for cancer patients by guiding therapeutic intervention throughout the course of disease. These intervention’s range from early detection of cancer, following disease progression to monitoring treatment response and guiding subsequent cycles of therapy. The first liquid biopsy assays involved enumeration of circulating tumor cells (CTC) and of canonical cancer mutations in circulating tumor DNA (ctDNA). This session will focus on new approaches to liquid biopsies that, in addition to screening for cancer mutations, include analyses of RNA transcription and protein expression in CTCs as well as evaluation of epigenetic and nucleosome packaging of ctDNA isolated in liquid biopsies.

How Patient-Centricity Impacts Precision Medicine

Ardy Arianpour, MBA, CEO & Co-Founder, Seqster

We are finally entering the era of patient-centric precision medicine. Today’s patient engagement movement is born of patients who ever more frequently demand to be more active participants and final decision makers in their healthcare. Precision medicine combines elements of bioinformatics, biomarker research, genomics, epigenomics, nutrigenomics, pharmacogenomics, and proteomics, along with considerations involving environment, lifestyle, and traditional medical data. By putting patients at the center of their healthcare we are able to break down all the data silos and allow them to bring together all their EHR, DNA and Fitness health data in one place. In order to get the best outcomes for precision medicine we need to leverage a person-centric interoperability platform that engages not only the participants in clinical trials but also the researchers leading the discovery work with access to longitudinal data.

A Cancer Patient’s Perspective on Clinical Drug Trials

Laura Holmes Haddad, Best Selling Author & Patient Advocate

Drug investigators depend on them; oncologists turn to them when there are no other options; and patients fear them: this is the clinical trial in the U.S. healthcare system. But among the myriad players in this critical aspect of precision medicine, there is little understanding of what actually happens once the patient has enrolled.
Join me as I share my experience as a 37 year old, StIV inflammatory breast cancer patient in a Phase 1 extension trial. I’ll be discussing important details about patient life in a trial, including traveling by plane to access a trial; arranging childcare support for our two young children; and the complicated route to accessing the trial itself.
By sharing the highs and lows, and the financial and emotional toll of the trial experience itself, I hope to help move the needle for patients in clinical trials. This includes improving patient education and access to trials among cancer patients.

Networking Reception at The Alexandria – enjoy drinks and hors d’oeuvres with fellow attendees, speakers and sponsors.

Breakfast Buffet

Women on Boards of Directors Make Precision Medicine Companies Better

Co-Moderators: Tara Kochis-Stach, President, Slone Partners and Coco Brown, Founder,  Athena Alliance

Panelists: Chris Cournoyer, MA, Consultant, Dawn Barry, MBA, President & Co-Founder LunaPBC, Mary Stutts, MHA,  Chief Diversity, Inclusion & Health Equity Officer, Stanford Health Care, Gail Marcus, MBA, PhD, Professor, Massachusetts College of Pharmacy and Health Sciences.

An abundance of international evidence concludes that women propel organizations to outperform the competition. Presented and co-moderated by Slone Partners President Tara Kochis-Stach and Athena Alliance Founder Coco Brown, Women on Boards of Directors Make Precision Medicine Companies Better examines the benefits that gender diversity plays in organizational performance. Over 90 minutes, exceptional panelists who possess uncommon expertise in scientific healthcare executive management, finance, law, corporate governance, marketing, and ethics explore how precision medicine company boards populated by greater numbers of women can reap unique rewards.

Accelerating Preventive Genomics: Risks, Rewards and Reality

Robert C. Green, MD, MPH, Associate Physician, Brigham and Women’s Hospital, Professor of Medicine, Harvard Medical School, Geneticist, Brigham and Women’s Hospital, Director, Genomes2People Research Program

When the Human Genome Project was completed in 2003, many believed that the dream of universal genomic evaluation and disease prevention was within reach. Yet 16 years later, the goal of integrating genomics with healthcare to identify disease risk, prevent morbidity and extend life within the healthcare system is still unfulfilled. In this presentation, recent data from the first rigorous clinical trials of comprehensive sequencing in healthy adults (the MedSeq Project) and in healthy newborn infants (the BabySeq Project) will be presented. These early data on the medical, behavioral and economic outcomes associated with the implementation of preventive genomics suggest that the medical benefits of such testing aggregate over a lifetime with modest risks and manageable downstream medical costs.

Coffee & Meet The Expert

Evolution of CAR-T Cell Therapy: Hype, Progress and Challenges

Moderator: Alessandra Cesano, MD, Chief Medical Officer, Essa Pharma

Panelists: Teresa Foy, PhD, Vice President, Immuno- Oncology and Cellular Therapy, Celgene, John Rossi, MS, Director, Translational Sciences, Kite, a Gilead Company

Chimeric antigen receptor (CAR) T cell therapy has shown to provide long lasting remission in a subset of patients with certain hematologic malignancies for whom chemotherapy had failed. With 2 FDA approved products commercially available for licensed indications in ALL and DLBCL, there is a fast-growing business in delivering CAR-T cells. While researchers, physicians, patients, and investors alike are seduced by such potential, there are still several major hurdles to overcome. Specifically, for the vast majority of patients with blood cancer, and all with solid cancers, CAR-T cells are not yet proven to be effective, are too toxic, or are not available due to expense or geography. This panel will focus on where the field is right now, and consider the issues that must be addressed as the field moves forward, in order to fulfill the promise of recent successes.

Moving Precision Medicine from Rhetoric to Reality

Roy Smythe, M.D, CEO, SomaLogic, Inc.

Despite many advances in the collection of human biologic and physiologic data, the vast majority of care delivery in the medically developed world is still focused at the “top of the triangle” of disease. In this stratum, patients have acute conditions, are expensive to care for and are relatively easy to identify. The problem is the “pipeline” of acute disease development is never interrupted – those at risk for acute exacerbations, occult existing diagnoses, pre-conditions and predispositions are often unidentified, and the possibility of lengthening “healthspan” is unfulfilled. While we tout the use of data to inform precision medicine, there is a difference between data, information, knowledge and wisdom – and perhaps wisdom is what is really required. What are the best sources of wisdom moving forward in precision medicine? Are they data from claims, EHRs, wearables and the genome, or something else?

Keynote – Precision Oncology: The Role of Genomic Profiling of Solid Tumors and Liquid Biopsies

Tim Triche, MD, PhD,  Co-Director for the Children’s Hospital Los Angeles (CHLA) Center for Personalized Medicine

The era of ‘one size fits all’ chemotherapy based oncology is rapidly being replaced by various forms of targeted therapy based on unique patient tumor profiles generated that determine precise therapy. While the benefits on patient outcome are dramatic, the era of ‘Precision Oncology’ is still very much a work in progress. Among other issues, identification of multiple gene drivers in tumors at diagnosis is complicated by the presence of vast numbers of ‘variants of unknown significance’, tumor clonality, and lack of evidence that a given defect actually contributes to the oncogenic process in that tumor at that point in time. While multiple research publications have focused on the identification of new drivers using methods like whole genome sequencing and RNA expression profiling by RNA seq, clinical samples of sufficient quality to enable such studies are rarely available. Instead, technology that enables accurate, deep read DNA and RNA sequencing of routine clinical samples is rapidly entering clinical practice. For primary tumor material, cancer panels like Oncomine, and our pediatric cancer equivalent, OncoKids, have proved to be clinically invaluable. However, for patients that progress despite therapy, assays to detect tumor defects associated with treatment resistance are necessary. Since re-biopsy is rarely an option, attention has turned to liquid biopsy as a means of detecting these defects and avoiding ineffective therapies for patients with progressive disease. Prostate cancer is a common cancer that often progresses to metastatic disease where chemical castration is typically the first line of therapy. This so-called androgen deprivation therapy (ADT) is rarely curative. We are developing a specific liquid biopsy panel for the detection of clinically informative genomic alterations in both cell free tumor DNA and RNA and circulating tumors cells (CTCs). The benefits of integrated primary tumor profiling with longitudinal analysis of evolving tumors clones by liquid biopsy as a standard of care for cancer patients in the future is self evident. The choice of content for both is not, and requires extensive analysis of large numbers of patients at various stages of their disease to identify valid biologic and clinically relevant drivers. Centralized collection of both genomic and clinical data is thus a key priority going forward in efforts to develop meaningful ‘precision oncology’ tools for clinical use.

LUNCH

Lessons Learned from 20 Years in Precision Medicine

Kristine Ashcraft, MBA – Chief Executive Officer & Founder

This talk will examine the successes and stumbling blocks experienced in two decades of bringing precision medicine and pharmacogenomics to clinical care. I will present several key lessons and how to apply them to the current state of the industry and look at current opportunities ripe for disruption and positive change. From optimizing communication and outreach to providers and patients, to proving value to various stakeholders, to the importance of establishing success metrics we’ll take a look backwards so we can move the innovation flywheel faster in the next 20 years.

Re-imagining Health Science Education for a Genomics-First Future

Moderator: Barbara Kraatz Fortini, PhD,  Assistant Professor of Genetics and MSGDA Program Coordinator, School of Pharmacy and Health Sciences, Keck Graduate Institute

Panelists: Karen A. Garman, EdD, MAPP, BCC, Director of Education and Engagement at Rady Children’s Institute for Genomic Medicine, Mark Kiel, MD, PhD, Founder and Chief Scientific Officer, Genomenon

With the clinical genomics industry advancing and expanding at a lightning speed, education programs for genetics and genomics must adapt to keep pace. The need for expertise in genetics and genomics throughout the healthcare system provides an opportunity for innovation in education models. Our panel will discuss the full spectrum of existing genomics educational programs from masters-level programs, MD and RN curriculums, to continuing education opportunities and discuss gaps that remain. Dr. Barbara Fortini will describe the development of two new master’s level programs at the Keck Graduate Institute in Genetic Counseling and Genomic Data Analytics. Dr. Karen Garman will discuss Rady Children’s Institute for Genomic Medicine’s educational programs for clinicians, NICU teams, healthcare payers, and legislators for implementing rapid whole genome sequencing for the diagnosis of acutely-ill children. Dr. Mark Kiel will speak about the role of industry in supporting educational initiatives.

Networking Break

Back to the Future: A look at the next generation technologies shaping Precision Medicine in Oncology.

Moderator: Marielena Mata, PhD,  Director and Diagnostic Lead, Pfizer

Panelists: Sasha Akoulitchev, MBA, PhD, Chief Scientific Officer and Co-Founder, Oxford BioDynamics, Sean Downing, MBA, PhD, Director Customer Engagement, Ultivue, Leighton Howells, Vice President of Business Development, RareCyte

In this panel we explore how Precision Medicine is evolving and what are the technologies being developed today that will shape the future of Oncology treatments.  We will highlight some of the biotech developing new platforms (Epigenetics, multiplexing, etc) but will also have the perspective of the customer, looking to answer some questions around the opportunities and challenges of bringing those technologies to fruition.

What It Takes to Disrupt and Innovate in the Precision Medicine Space, When It Is Already Moving At 1000mph.

Panelists: Michael Heltzen, CEO, Cardea

Closing Remarks