Creating a national Genomic Medicine Service
Professor Sir Malcolm Grant, Chair, NHS England
The NHS in England has worked in partnership with Genomics England Ltd (a government-owned company) to bring to fruition the 100,000 genomes project. This has involved NHS England creating 13 regional NHS Genomic Medicine Centres linking hospitals across the country to establish a genomic medicine service. This has laid the foundations for the next stage, moving from proof of concept to implementing genomic medicine across England’s 55 million population, enabled by the unique structure of England’s National Health Service and its long history of providing genetic services for patients. This transformation will involve major improvements in the laboratory and informatics infrastructure, in service delivery models and care pathways, and in the up-skilling of staff to improve outcomes for patients. It will be an important component of the UK’s future life sciences industrial strategy.
Systems Medicine, Big Data and Scientific Wellness: Transforming Healthcare—A Personal View Leroy Hood Institute of Systems Biology and Providence Health and Services, Seattle, WA
Systems medicine, the application of systems approaches to disease, places medicine at a fascinating tipping point—promising a revolution in the practice of medicine. I will discuss how systems biology approaches have framed systems medicine and I will discuss some of the new systems-driven technologies and strategies that have catalyzed this tipping point. Moreover, four converging thrusts—systems medicine, big data (and its analytics), the digitalization of personal measurements 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. P4 medicine has two central thrusts—quantifying wellness and demystifying disease. I will discuss our successful effort to introduce P4 medicine into the current healthcare system with a P4 pilot program on scientific wellness—a longitudinal, high-dimensional data cloud study on each of 108 well patients over 2014. The preliminary results both with regard to data analyses and patient responses from these studies are striking. They point to the emerging discipline of scientific wellness—and the fact that it will catalyze several new thrusts in healthcare: 1) optimizing wellness, 2) identifying the earliest disease transitions for all common diseases and 3) employing the dense, dynamic, personal data cloud approach to study diseases (e.g. cancer, Alzheimer’s, diabetes) and their responses to therapy. Scientific wellness will also pioneer N=1 experiments to deconvolute the staggering complexity of human biology and disease. We started Arivale, a company focused on scientific wellness for the consumer, in 2015 and already have 1400 individuals enrolled. I will also discuss preliminary results from the Arivale studies. My institute, the Institute for Systems Biology (ISB), has recently affiliated with Providence St. Joseph Health to become its research arm. Providence is the largest non-profit healthcare system in the US—and ISB/Providence will be initiating a series of “translational pillars” moving applications of systems (P4) medicine from the bench to the bedside. These pillars include scientific wellness, bringing scientific wellness to cancer survivors, making Alzheimer’s a reversible and preventive disease, rather than a relentlessly progressive disease, taking a systems approach to type 2 diabetes and exploring how the deep, dynamic, personal data clouds can be used to gain a deep understanding of glioblastoma and provide new diagnostic and therapeutic approaches.
Scientific wellness will catalyze a transformation in contemporary healthcare and it will provide tens of thousands of dense, dynamic, personal data clouds that will present striking new opportunities for pharma, biotech, nutrition and diagnostic companies. As the cost of the assays for the dense, dynamic, personal data clouds decline, scientific wellness can be brought to the developing world leading to a democratization of healthcare unimaginable even a few years ago.
Collaborating for Precision Health in Alberta
Verna Yiu, Alberta Health Services
Precision health holds tremendous promise. Yet its emergence challenges health providers and clinical practices, requiring health systems to reconsider how to structure and deliver care. Precision health is disruptive and healthcare leaders must be prepared to respond to that disruption. Alberta Health Services President and CEO Dr. Verna Yiu will discuss how her organization is positioning itself to address these challenges and opportunities. She’ll describe how AHS is collaborating with organizations to forecast the impact of precision health on the full continuum of care — from health promotion, prevention and diagnostics, to treatment and expected outcomes – and the implications for Albertans.
Advancing Precision Medicine in California- Next steps and lessons learned
Elizabeth Baca, Senior Health Advisor, Governor’s Office of Planning and Research, State of California
California launched the California Initiative to Advance Precision Medicine (CIAPM) in 2015 with an idea to bring public and private partners together to impact the health of Californians and apply precision medicine approaches. Two years into the initiative, 8 demonstration projects have created 45 novel partnerships across the state and beyond. Including one in BC. Discuss lessons learned and next steps for CIAPM.
Three Cancer Patients, The Same Mutation, Three Different Treatments
Thomas Grogan, MD, Ventana Medical Systems
This presentation makes the case for personalized medicine with patient examples. It is an account of three cancer patients with the same mutation (BRAFV600) and very different clinical journeys. Two of the patients had BRAFV600 mutated malignant melanoma and one had BRAFV600 mutated colorectal cancer, all with metastatic disease. All three had the prospect of anti-BRAF therapy which two received, one with complete response and one without response. The third patient received immunotherapy without anti-BRAF therapy. The first patient was a full beneficiary of mutation-directed targeted therapy. The second patient did not respond to targeted therapy due to genetic and phenotypic evolution of the tumor. While initially unresponsive to targeted therapy this patient benefited from add-on therapy directed at adaptive phenotype change. The third patient had a hypermutated melanoma with a combined 10 mutations. This genetic diversity precluded single drug targeted therapy, but a phenotypic “common denominator” PDL1-PD1 expression presented a wide spectrum target via anti PD1 therapy. This is a story about both the great benefit and complexities underlying personalized, targeted cancer care. These stories demonstrate the importance of a high level of diagnostic information to ensure individualized care. These examples emphasize the importance of “multiomics”: genomics + proteomics + interactomics + clinicalomics”.
Personalized, personalized medicine
David Fajgenbaum, Hospital of the University of Pennsylvania (HUP), Division of Medical Genetics, CoFounder & Executive Director, Castleman Disease Collaborative Network
Dr. David Fajgenbaum is Assistant Professor of Medicine at the University of Pennsylvania, co-Founder/Executive Director of the Castleman Disease Collaborative Network (CDCN), and a patient battling the same rare and deadly disease–idiopathic multicentric Castleman disease (iMCD)—that he studies. Between life-threatening relapses, Dr. Fajgenbaum created the CDCN and has grown it into a model for international collaboration. He has published research that has changed the way iMCD is researched and treated. He is currently in his longest remission ever thanks to a precision treatment that he identified through investigation of phenotypic, ‘omic, and cellular data. He will share his perspectives on engaging patients, physicians, researchers, and advocates as a patient, physician, researcher, and advocate.
Safeguarding Canadians’ Genetic Information: Bill S-201, the Genetic Non-Discrimination Act
The Honorable James S Cowan, QC, Senate of Canada (retired)
On May 4, 2017, the Genetic Non-Discrimination Act became law, finally providing Canadians with strong protection against genetic discrimination. This law clears the way for Canadians to benefit from genetic testing and personalized medicine. Senator Jim Cowan shares the story behind his bill, what it will do for Canadians and personalized medicine in Canada, and how the bill passed into law despite powerful opposition.
The transformation of healthcare by the integration of genomic data, clinical records, the internet of things and machine learning
John Mattick, Executive Director, Garvan Institute of Medical Research
The initial focus of clinical genome sequencing has been the diagnosis of disease, but this is just an important waystation, not the destination. We need to plan for a future where personal genome sequences are routinely incorporated into medical records and integrated with clinical data and other phenotypic and environmental information to create a multi-dimensional data ecology that can be mined – irrespective of the reasons for collecting the data in the first place – by directed queries and agnostically by machine learning and artificial intelligence. This will challenge many of the current structures and the traditional modus operandi of medicine, and will ultimately transform health management, both individually and systemically.
The importance of big data for stratified medicine
Andrew Morris, Chief Scientist, Scottish Government Health Directorate, NHS
Healthcare is arguably the last major industry to be transformed by the information age. Deployments of information technology have only scratched the surface of possibilities for the potential influence of information and computer science on the quality and cost-effectiveness of healthcare. In this talk, the opportunities provided by computer science and “big data” to transform health care delivery models will be discussed. Examples will be given from nationwide research and development programmes that integrate electronic patient records with biologic and health system data. Two themes will be explored; specifically:
- How the size of the UK (65M residents), allied to a relatively stable population and unified health care structures facilitate the application of health informatics to support nationwide quality-assured provision of diabetes care.
- How population-based datasets and disease registries can be integrated with biologic information to facilitate (i) epidemiology; (ii) drug safety studies; (iii) enhanced efficiency of clinical trials through automated follow-up of clinical events and treatment response; and, (iv) the conduct of large-scale genetic, pharmacogenetics, and family-based studies essential for precision medicine.
HIV-Treatment as Prevention® as an Innovative Platform to Promote Targeted Disease Elimination and Health Care Sustainability
Julio Montaner, Director, BC Centre for Excellence in HIV/AIDS
HIV-Treatment as Prevention® (TasP®) pioneered by the BC Centre for Excellence in HIV/AIDS (BC-CfE) is a strategy aimed to maximize the triple impact of highly active antiretroviral therapy (HAART) to advance HIV Disease Elimination and thus promote Health Care Sustainability. This is based on the recognition that HAART is highly effective in preventing: 1) progression to AIDS, 2) premature death, and 3) HIV transmission. The BC-CfE has been actively involved with the BC-Ministry of Health to adapt, evaluate and eventually expand TasP® to other contagious diseases to promote better individual health, and public health outcomes, and thus promote Targeted Disease Elimination and Health Care sustainability. The first immediate target for TasP® expansion is Hepatitis C virus (HCV) infection. Of note, HCV has become the single most frequent infectious cause of death in North America. Today, HCV has surpassed the death toll associated with all other communicable infectious diseases combined (including AIDS and Tuberculosis). New HCV curative treatments are highly effective and safe however, once cured an individual is susceptible to re-infection. This represents a major challenge for the development of an effective HCV-TasP® strategy. With the support of our BC-Ministry of Health, the BC-CfE is currently evaluating strategies to prevent HCV re-infection as a key preliminary step to an effective and cost-effective HCV-TasP® strategy. The BC-CfE is also investigating the expansion of TasP® to conditions that are contagious but not infectious, where there is evidence of “social contagion”. This would apply to any condition where increased prevalence is associated with increased incidence through behavioral/social contagion, such as addictions. With the support of the BC-Ministry of Health, the BC-CfE established the BC Centre on Substance Use to enhance Addiction Medicine capacity in BC. With support from the US National Institute for Drug Abuse, the BC-CfE is part of an international collaboration evaluating the impact of structural interventions as a means to decrease initiation on injection drug use in five jurisdictions across North America, including BC.
The Time Is Now For Personalized Medicine In British Columbia
Pieter Cullis, Director Life Sciences Institute, UBC
BC has the necessary resources to take a leading role in the personalized medicine revolution that is transforming the practice of medicine worldwide. What is needed now is a visionary effort. There are four priorities. First, we need a leadership commitment from the BC government. Second, we need an umbrella organization representing healthcare stakeholders that has the mandate to implement personalized medicine practices in BC and to take advantage of commercialization opportunities. Third, transformative support for existing precision medicine efforts in BC is required. Finally, we need to establish a unique comprehensive Omics database on patients suffering from high cost/morbidity/mortality diseases to place BC in a globally distinctive leadership position in the practice of personalized medicine. The revolution is coming whether we like it or not, the opportunity is now to become a leader.