Welcome and Opening Remarks
Nigel Russell, President and Founder, Precision Medicine Leaders’ Summits, The Journal of Precision Medicine
Keynote – The Algorithm for Precision Medicine
Matt Might, PhD, Professor, Internal Medicine and Computer Science; Hugh Kaul Endowed Chair, Personalized Medicine; Director, Hugh Kaul Precision Medicine Institute
Precision medicine promises to deliver the right treatment to the right patient at the right time. The key question is: “How?” The answer is data: precision medicine is data-driven medicine. Precision medicine uses data — frequently genetic data — to prevent, diagnose and treat disease at its root cause and in the context of an individual patient. This talk covers the development of an algorithm for conducting precision medicine, and it casts the creation of this algorithm through the lens of a personal story. From this story, I will generalize to a process that scales precision medicine to all disease, or rather, to all patients with real world examples.
Barriers and Solutions in Clinical Operations for Accelerating Precision Medicine in Rare Diseases
Moderator: Harsha K. Rajasimha, MS, PhD, Founder and Chief Executive Officer, Jeeva Informatics Solutions
Panelists: PJ Brooks, MA, PhD, Program Director, Office of Rare Diseases Research, NCATS, NIH; CJ Malanga, MD, PhD, Global Clinical Lead, Rare Diseases, Takeda; Sridhar Sivasubbu, PhD, Scientist and Head Of Business Development, CSIR Institute of Genomics & Integrative Biology; Chirag Trivedi, PhD, Clinical Study Unit Cluster Head – India-South East Asia, Sanofi
Precision medicines target patients with specific molecular markers and add additional complexities to clinical operations. Clinical Operations is complex and involves multiple stakeholders at a critical juncture during clinical development of investigational new therapies. Patient identification, eligibility screening, patient enrollment, lab tests, and ongoing evidence generation. Cell/gene therapies are novel modalities for delivering precision medicine to the right patients at the right dose at the right time. Clinical Operations for these novel modalities challenge every step of the traditional brick and mortar clinical trial operations. The panel will explore these challenges and current solutions to address them.
Strategies for Improving the Diagnostic Yield of WGS/WES in Rare Disease
Jeanette McCarthy, MPH, PhD, Senior Director, Scientific Programs, Fabric Genomics
Next-gen sequencing provides diagnoses for thousands of children with rare disease every year, but approximately 60% of cases remain unsolved. In this presentation, we’ll discuss strategies for improving the diagnostic yield, including expanded reporting, incorporation of CNV analysis and routine reanalysis.
Scaling Machine Learning to Uncover the Genome’s Role in Complex Diseases
Denis Bauer, PhD, Head, Cloud Computing Bioinformatics, Commonwealth Scientific and Industrial Research Organisation (CSIRO); Adjunct Associate Professor, Macquarie University
Genomics enables precision medicine by enabling cloud and machine learning solutions to generate data-driven insights. This talk showcases how we find disease gene candidates for complex diseases and share genomic insights in an interoperable way with the world.
Using VariantSpark, a novel machine learning framework capable of processing trillion of datapoints from Whole Genome cohorts, we investigate poly-genic risk and identify associated epistatic interactions. VariantSpark fosters reproducible and collaborative research by bringing analytics to the data through digital Marketplaces. Serverless Beacon (sBeacon) and Serverless Variant Effect Predictor (sVEP) then allow the efficient sharing and annotation of genomic data. Ontoserver, a FHIR-native Terminology Server, integrates genomic data with the health system. Ontoserver enables interoperability for the National Digital Health Programs in Australia and United Kingdom. The talk concludes by outlining how cloud-solutions developed around the world will contribute to a precision medicine system that is larger than the sum of its parts.
Keynote – How do we scale precision genetic medicine to address thousands of currently untreatable diseases?
Dietrich Stephan, PhD, Chief Executive Officer, NeuBase Therapeutics
Genetic medicines can potentially treat thousands of diseases that have no treatment options today; however current technologies are limited by a lack of specificity, poor tissue distribution, and an inability to address multiple types of genetic mutations. NeuBase seeks to overcome these limitations with a single unifying platform to create precision genetic medicines that can engage the human genome to turn genes on, off, or edit them to address numerous types of disease-causing mutations at the base level.
Genomics in the Clinic and the Promise of Precision Medicine
Moderator: Christina Waters, PhD, MBA, Chief Executive Officer and Founder, RARE Science
Panelists: Chung-Hung Chan, PhD, Director, Special Projects, Sanford Research; Director, Sanford BioBank; Lynsey Chediak, MS, Lead, Global Health, World Economic Forum; Andrea Haworth, MS, Lead Clinical Scientist, Rare Disease, Congenica; Arthur Hermann, MS, Principal, Health IT Strategy and Policy, Kaiser Permanente
Utilizing genetics/genomics in early clinical practice has demonstrated multiple use cases that demonstrate value using these measurement criteria 1)change in case management 2) improved patient outcomes and 3) improved health economics. The panelist will be sharing perspectives on the impact of early intervention using WGS/WES and clinical decision support for diagnosis through their involvement with key programs that are leading the way. In addition, we will explore how to leverage these learnings and what are some of the current obstacles that need to be overcome. Key components include integration of genomics in clinical process, early intervention, clinical interpretation, and new discovery that will drive precision medicine that is dependent on data sharing and global engagement.
- Chun-Hung Chan, PhD – genomics at first point of care, world clinics, standardized clinical protocols, clinicians and genetics today (PGX, GSA, etc.) developing standardized clinical protocols that can be shared and tools that are at the fingertips of clinicians to access these data for immediate point of care intervention.
- Andrea Haworth, PhD – prenatal genetics/early intervention and rare clinical diagnosis (what works and what is still challenging )
- Lynsey Chediak – diagnostic odyssey, early intervention precision medicine/breaking barriers (federated models for data sharing for rare disease).
- Arthur Hermann, MS – HL7, clinicians early use of genetics, kaiser and genetics, interoperability of clinical records.
Nigel Russell, Founder and President, Precision Medicine Leaders’ Summits, The Journal of Precision Medicine