MARYCAIREMD
THE PATH TO
WELLNESS
THROUGH BIG DATA
23andMe
Genetic Genie
Tree of Life
Past medical history
Family history
Symptom documentation
Biomarkers
Inflammatory markers
Hormonal levels
Cortisol levels
Microbiome testing
Nutritional analysis
Metabolic markers
Toxicity testing
Lipid testing
Vitamin/mineral reporting
Vital signs
Wearables
25%
/MaryCaireMD
@MaryCaireMD
/in/MaryCaireMD
The Path to Wellness Through Big Data
Big Data. Shared. Simply. Securely.
Roy Wilds
Director of Product Management
PHEMI Systems
rwilds@phemi.com
PHEMI COPYRIGHT 2016
Physiological Diagnosis
Trial and ErrorTherapy
Systemic Delivery
Late Stage Care
Ineffective Therapy
Unsustainable Healthcare Costs
Patient Lacks Knowledge And Power
Present Practice
Molecular Diagnosis
Therapy Based on Molecular Diagnosis
Targeted Delivery
Preventive Care
Patient Specific, Effective Treatment
Reduced Waste
Patient Empowerment
Personalized Medicine
Personalized Medicine: A Massive Change In Medical Practice Driven By
New Technologies That Characterize Individuals at the Molecular Level
TECHNOLOGY
15
PHEMI COPYRIGHT 2016
Vancouver-based not-for-profit organization
Vision: Introduce an individualized approach to preventive
and curative healthcare based on the molecular
makeup of the individual and their disease
 More effective and safer therapeutics
 Better matching of treatment to disease
 More effective preventive medicine; patient
empowerment
 More efficient healthcare
 Identification of new drug targets and
therapeutics
BenefitsMolecular “Omic”
Analyses
16
PHEMI COPYRIGHT 2016
MYCO provides:
 a comprehensive, molecular-level health monitoring program for preventive
medicine to detect early disease and monitor response to therapy.
 a molecular analysis program to stratify disease to better match treatment
to the individual patient
THE MOLECULAR YOU PROGRAM
• Whole exome sequencing up front
• Every four months:
• Proteomic analysis of blood (>200 proteins)
• Metabolomic analysis of blood (>200 metabolites)
• Microbiomic analysis of colon (>1,000 bacteria)
• Download continuous monitoring of vital signs (heart rate etc.)
• Bioinformatic analysis of data (early signs of disease, response to therapy etc.)
• Consultation with healthcare professional to interpret data
17
Molecular You Corporation: Precision Health
PHEMI COPYRIGHT 2016
Molecular You Co. uses PHEMI to advance preventive and curative healthcare
• Early warning system
• Prevent, delay, mitigate
• Quarterly molecular screening
• Grow to 25,000 patients
• 15+ varied data sources
• Integrate “omics” with
• clinical data
• Longitudinal study
• Rich research
Precision Medicine
21
Life Sciences
Institute
PHEMI COPYRIGHT 2015
The Data Dilemma in Precision Medicine
Share and Protect?
Data available
analysis, insights,
and new services
Analytics
Applications
19
Copyright PHEMI Systems20
How do I share data
for secondary use
without compromising privacy,
security, and governance?
PHEMI COPYRIGHT 2016
PHEMI Central Big Data Warehouse
OmicsSpreadsheetsTextSystemsDatabase SensorsImages
Custom
Applications
Advanced
Analytics
Data Science
• Flexible, agile data repository for
multi-structured data
• Support advanced analytics, data
science and new services
• Govern, manage and control access
to protect privacy and manage data
sharing
• Publish data marts
• Scale as your data and users grow
• Deploy on premise or in the cloud
21
PHEMI COPYRIGHT 2015
Addressing Precision Medicine Challenges
22
Collect
Index and catalog
for findability
Protect
and Share
Privacy, Security &
Governance
Curate and
Transform
Analytics-ready
PHEMI COPYRIGHT 2016
Metadata Billions of Assets
23
PHEMI COPYRIGHT 2016
User Attributes
Access Control Based on User Attributes
24
PHEMI COPYRIGHT 2016
Protect
Zero Trust to Read Data
25
PHEMI Central’s Policy Enforcement
Engine reduces the risk of data
breach by enforcing rules universally
and consistently for each user and
data element.
PHEMI COPYRIGHT 2016
Each user (or application) sees only data they are authorized to see
26
Example
Applications
Privacy
Controlled
Data
Warehouse
PHEMI COPYRIGHT 2016
Architecture Components
Privacy, Security, and Governance “out of the box”
• Distributed, scalable base
• PHEMI Central
• Coordinates and manages all
processes
• Abstracts and simplifies distributed
concepts
• Audits and manages data and
interactions
27
HDP
Ambari
Spark Map-Reduce
Kafka
PHEMI Central
Accumulo
YARN
PHEMI COPYRIGHT 2016
Questions?
Roy Wilds, PhD
Director of Product Management, PHEMI Systems
rwilds@phemi.com
28

The Path to Wellness through Big Data

  • 1.
  • 6.
    23andMe Genetic Genie Tree ofLife Past medical history Family history Symptom documentation Biomarkers Inflammatory markers Hormonal levels Cortisol levels Microbiome testing Nutritional analysis Metabolic markers Toxicity testing Lipid testing Vitamin/mineral reporting Vital signs Wearables
  • 11.
  • 13.
  • 14.
    The Path toWellness Through Big Data Big Data. Shared. Simply. Securely. Roy Wilds Director of Product Management PHEMI Systems rwilds@phemi.com
  • 15.
    PHEMI COPYRIGHT 2016 PhysiologicalDiagnosis Trial and ErrorTherapy Systemic Delivery Late Stage Care Ineffective Therapy Unsustainable Healthcare Costs Patient Lacks Knowledge And Power Present Practice Molecular Diagnosis Therapy Based on Molecular Diagnosis Targeted Delivery Preventive Care Patient Specific, Effective Treatment Reduced Waste Patient Empowerment Personalized Medicine Personalized Medicine: A Massive Change In Medical Practice Driven By New Technologies That Characterize Individuals at the Molecular Level TECHNOLOGY 15
  • 16.
    PHEMI COPYRIGHT 2016 Vancouver-basednot-for-profit organization Vision: Introduce an individualized approach to preventive and curative healthcare based on the molecular makeup of the individual and their disease  More effective and safer therapeutics  Better matching of treatment to disease  More effective preventive medicine; patient empowerment  More efficient healthcare  Identification of new drug targets and therapeutics BenefitsMolecular “Omic” Analyses 16
  • 17.
    PHEMI COPYRIGHT 2016 MYCOprovides:  a comprehensive, molecular-level health monitoring program for preventive medicine to detect early disease and monitor response to therapy.  a molecular analysis program to stratify disease to better match treatment to the individual patient THE MOLECULAR YOU PROGRAM • Whole exome sequencing up front • Every four months: • Proteomic analysis of blood (>200 proteins) • Metabolomic analysis of blood (>200 metabolites) • Microbiomic analysis of colon (>1,000 bacteria) • Download continuous monitoring of vital signs (heart rate etc.) • Bioinformatic analysis of data (early signs of disease, response to therapy etc.) • Consultation with healthcare professional to interpret data 17 Molecular You Corporation: Precision Health
  • 18.
    PHEMI COPYRIGHT 2016 MolecularYou Co. uses PHEMI to advance preventive and curative healthcare • Early warning system • Prevent, delay, mitigate • Quarterly molecular screening • Grow to 25,000 patients • 15+ varied data sources • Integrate “omics” with • clinical data • Longitudinal study • Rich research Precision Medicine 21 Life Sciences Institute
  • 19.
    PHEMI COPYRIGHT 2015 TheData Dilemma in Precision Medicine Share and Protect? Data available analysis, insights, and new services Analytics Applications 19
  • 20.
    Copyright PHEMI Systems20 Howdo I share data for secondary use without compromising privacy, security, and governance?
  • 21.
    PHEMI COPYRIGHT 2016 PHEMICentral Big Data Warehouse OmicsSpreadsheetsTextSystemsDatabase SensorsImages Custom Applications Advanced Analytics Data Science • Flexible, agile data repository for multi-structured data • Support advanced analytics, data science and new services • Govern, manage and control access to protect privacy and manage data sharing • Publish data marts • Scale as your data and users grow • Deploy on premise or in the cloud 21
  • 22.
    PHEMI COPYRIGHT 2015 AddressingPrecision Medicine Challenges 22 Collect Index and catalog for findability Protect and Share Privacy, Security & Governance Curate and Transform Analytics-ready
  • 23.
    PHEMI COPYRIGHT 2016 MetadataBillions of Assets 23
  • 24.
    PHEMI COPYRIGHT 2016 UserAttributes Access Control Based on User Attributes 24
  • 25.
    PHEMI COPYRIGHT 2016 Protect ZeroTrust to Read Data 25 PHEMI Central’s Policy Enforcement Engine reduces the risk of data breach by enforcing rules universally and consistently for each user and data element.
  • 26.
    PHEMI COPYRIGHT 2016 Eachuser (or application) sees only data they are authorized to see 26 Example Applications Privacy Controlled Data Warehouse
  • 27.
    PHEMI COPYRIGHT 2016 ArchitectureComponents Privacy, Security, and Governance “out of the box” • Distributed, scalable base • PHEMI Central • Coordinates and manages all processes • Abstracts and simplifies distributed concepts • Audits and manages data and interactions 27 HDP Ambari Spark Map-Reduce Kafka PHEMI Central Accumulo YARN
  • 28.
    PHEMI COPYRIGHT 2016 Questions? RoyWilds, PhD Director of Product Management, PHEMI Systems rwilds@phemi.com 28

Editor's Notes

  • #3 This is an historic (revolutionary) era in the field of medicine. Today, we’re able to practice precision medicine informed by DNA testing and analysis that lets us take our health (and vitality) to the next level and feel our best – like we’ve never been able to do before. At my practice, I call this the Caire Method.
  • #4 Before I share more about the importance of DNA and big data for the future of healthcare, I’d like to share a little piece of history with you. It’s something that has inspired my path in medicine. This is my great-grandfather’s log book and it’s dated September of 1911. He was a physicist and he wrote by hand everything he used to treat his patients. He had an incredible relationship with each and every one of his patients. That’s the legacy I come from. I’m actually a 5th-generation physician in my family and I loved hearing stories about my great-grandfather trading a chicken for healthcare and the first time he used antibiotics. And I think about how far we’ve come in medicine in just 100 years. Back then, the medical community wasn’t even using penicillin yet, much less studying the structure of DNA. Things have changed so much, but the thing that still holds true is that the best medicine is all about the relationship between the physician and patient. Today, we’ve mapped the human genome and trailblazers in medicine like me are analyzing DNA, biomarkers, the microbiome and data from a multitude of sources to practice more informed medicine. The evolution of what brought us here today is phenomenal.
  • #5 We’re going beyond traditional medicine and even integrated care. Precision medicine is personalized medicine. No longer “one-to-many” or “one-size-fits-all”. This is a true “one-to-one”, personalized approach. Guided by testing, big data and analysis, we’re able to craft an individual, tailored key that’s made specifically to fit the lock of one specific patient. It’s a key that can keep the patient well and vital throughout their life.
  • #6 But in order to make that key, we need to analyze data from an incredible amount of sources and look for patterns – and right now the search engine that’s doing that is in the minds of a few trailblazers like myself who are looking at all of these analytics and trying to make that individual key for our patient’s lock, while we protect their privacy. This is a big challenge because we’re dealing with websites and services that we don’t control. We’re sharing health-related information across the internet with questionable security.
  • #7 The data I look at comes from multiple different labs from all over the world and includes data from these testing sources as well as others (reference items on slide).
  • #8 From just one patient, the genetic data and annotation can be more than 2,000 gigabytes. Once you add the data from other testing, it’s enormous amount of data and with it comes enormous potential to help our patients. The problem is that we haven’t unlocked that potential. As doctors, we don’t have a central service where we can safely and securely put all of this data and look for patterns across all of these sources or build better predictive analytics to improve patient outcome.
  • #9 We have the opportunity to save billions in healthcare costs, spent on treating the symptoms of disease, and help an untold number of people not only lengthen their lives but improve the quality of it.
  • #10 Let me share an example with you of how this type of medicine helped me help my son Andrew. Now, he’s almost 6 years old, but when Andrew was about 12 months, he became extremely irritable and unhappy. He suffered from eczema and asthma and he was suffering. Thankfully, this coincided with the evolution of my practice. I had just started incorporating DNA and other advanced testing. I looked at Andrew’s genetics, nutritional deficits, microbiome, bloodwork and a wide range of other data. Found that he had an issue with vitamin D receptors: he was low in vitamin D and needed a higher dosage to maintain the optimal level He also had a methylation defect: methylation is what helps you turn DNA switches on and off; it provides dopamine and serotonin, which explained his mood changes Gave him pre-digested forms of B vitamins and he became pleasant and happy and healthy I also found that he had a high genetic probability of developing celiac disease and had intolerance for dairy, so we adjusted his diet. Normally, children with his type of issues would have had dangerous procedures that require general anesthesia and biopsies just to try to figure out what’s wrong with them. But with advanced testing and data analysis, I was able to come up with a personalized plan for Andrew that was basically free. It was nutrient based.
  • #11 His transformation was amazing and we avoided costly medical care that would have cost thousands and would have been traumatic for him. We also avoided guesswork and were able to pinpoint and treat the source of his issues quickly to get him relief and improve his health.
  • #12 So that’s one specific example, but like I said our opportunities to help billions of people are enormous. In fact, 25% of all Americans will suffer from some form of mental illness in their lifetime. Depression, anxiety, bi-polar disorder…the mainstream approach is to try one drug after the other and hope they work With testing and analysis, we’re able to know which drugs a patient can best metabolize – or better yet, treat solely with tailored nutritional plans. Imagine the relief when I tell a patient that they have a specific genetic defect in enzyme that we can fix with supplementation of methylated folate. They could avoid the use of major drugs for the entirety of their life.
  • #13 I’m driven by my desire to practice medicine as my great-grandfather did – by having a personal and close relationship with each of my patients and using all of the tools and technology available to me to keep them well. I’m also inspired by the powerful success stories from the early days of precision medicine. That’s why I’m so excited to be here and learn more about the solution the PHEMI team can provide.
  • #14 I’d love to connect with you and work together to advance the capabilities in these areas. Join me on MaryCaireMD.com or reach out via my social channels. You can find me @MaryCaireMD.
  • #19  Molecular You with PHEMI The ultimate goal of MYCO: streamlined process for generating a personalized dataset based off of individualized molecular information. Preventative Care Challenge Want to integrate genomics information into regular care Include regular molecular screening Advise clients on behavior to for wellness based on genomics IT Challenges Highly variant data types stranded in numerous different data silos Need to scale cost effectively, with minimal complexity Need to add new data, and new sources of data incrementally, ongoing Need to work with very large, diverse data sets Need robust security, privacy, and governance controls for different views, different users Solution THE MYCO MOLECULAR YOU PROGRAM Whole exome sequencing up front Every four months: Proteomic analysis of blood (>200 proteins) Metabolomic analysis of blood (>200 metabolites) Microbiomic analysis of colon (>1,000 bacteria) Download continuous monitoring of vital signs (heart rate etc.) Bioinformatic analysis of data (early signs of disease, response to therapy etc.) Consultation with healthcare professional to interpret data You can see that all types of data are being collected, on an ongoing basis. Each time the data is collected, more metadata is attached to the original data. And in most cases, different specialists need access to different views of the data. The Microbiome researcher conducting analsyis of bacteria in the gut may have a different view of the data than those clinicians who can see the patient’s behavioral information like diet, activity and sleep.
  • #20 Path to data-driven enterprise blocked
  • #22 Quickly Develop Custom Apps Integrate self-serve analytics De-identification, Privacy, Security, Governance Collect, cleanse, catalog, curate at scale
  • #24 A digital asset looks like this. It consists of the data itself (for example, an ECG, lab result, X-Ray, or Consult Letter) plus metadata which are rules and asset descriptions about the data. The metadata defines the Governance Model for a dataset. It’s the metadata that makes the digital asset valuable, and makes BIG Data for health care possible. Without it, it would be difficult to find the information we were looking for.
  • #26 Field-Level Controls Hide, Read, Export Unmodified, Mask, Redact, De-identify
  • #27 Key talking points: Dynamic data anonymization and de-identification.