6. 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
14. The Path to Wellness Through Big Data
Big Data. Shared. Simply. Securely.
Roy Wilds
Director of Product Management
PHEMI Systems
rwilds@phemi.com
15. 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
16. 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
17. 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
18. 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
19. PHEMI COPYRIGHT 2015
The Data Dilemma in Precision Medicine
Share and Protect?
Data available
analysis, insights,
and new services
Analytics
Applications
19
20. Copyright PHEMI Systems20
How do I share data
for secondary use
without compromising privacy,
security, and governance?
21. 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
22. 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
25. 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.
26. PHEMI COPYRIGHT 2016
Each user (or application) sees only data they are authorized to see
26
Example
Applications
Privacy
Controlled
Data
Warehouse
27. 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
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.
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.
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
Molecular You with PHEMIThe 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.
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.