"Hacking the Software for Life" - Brad Perkins (Chief Medical Officer, Human Logevity, Inc.)

CONFIDENTIALNOT FOR DISTRIBUTION

1 1


2

Hacking the Software for Life

Brad Perkins, MDChief Medical OfficerHuman Longevity, Inc.@BradleyAPerkins


3


4

Reduced Sequencing Costs

Cost of human whole genome sequence drops from $100M in2001 to ~$1000 in 2014

Computational PowerMoore’s Law dynamics continue to decrease computing costs by

half every 24 months

Value-based CareHealth systems moving from

volume- to value-based models, providing opportunity for potential

disruption.

Machine LearningMachine learning goes mainstream due to quality breakthroughs and exponential increases in data availability

Four Trends Converge

To predict everything that can be predicted from the human whole

genome sequence.


6

Merging Genotype with Phenotype Data to Interpret Our Genetic Code

BIOLOGICAL DATA

INSIGHTS AND OUTCOMES

Genomics Phenotype

Computation

Diagnostics& Therapies

Medical Care Models

Machine Learning


7

• Uncovered 150 million new single nucleotide genetic variants (SNVs), 82 million of which were novel

• Each sequenced genome contributed more than 8,500 novel variants

• Using billions of data points, the team mapped the invariant sites in the genome


8

Single Gene (Mendelian) and Genome-Wide Association Studies (GWAS)

5% to 10% of all cancers result from inheritedsingle gene defects

• Cancers occurring at younger ages than usual

• Uncommon types of cancer• More than one type of cancer in a single

person• More than one childhood cancer in a set of

siblings

• Multiple common genetic variants contribute to risk

• Size effects are comparable to environmental factors (e.g. 2-5 fold)

• Strong support from GWAS on tens of thousands of individuals

Heritable Cancer (Mendelian): Mechanistic

Common Cancers (GWAS): Epidemiologic

Cancer Risk


9

Human Microbiome: Early But Provocative Data

•Diabetes, Type 2•Cardiovascular disease•Cancer• Inflammatory Bowel Disease•Non-Alcoholic Fatty Liver Disease (NAFLD)

•Obesity•Autoimmune disorders•Autism

1.77m 1.76m

MM

35y 38y

76kg82kg

PredictionSubject


11


12


13

Age-Related Diseases are Leading Causes of Pre-Mature Mortality in US Adults, 50-74 years

* Ages 50 – 74, 2013 in USA; Adapted from Institute of Health Metrics and Evaluation, University of Washington. http://www.healthdata.org/results/data-visualizations

MALE30%

RISK OF DEATH*

CARDIOVASCULAR32%

CANCER36%

FEMALE20%

RISK OF DEATH*

CANCER40%

CARDIOVASCULAR25%

NEUROLOGIC3%

CIRRHOSIS3%

DIABETES6%

RESPIRATORY7%

OTHER13%

RESPIRATORY10%

DIABETES10%

CIRRHOSIS5%

NEUROLOGIC5%OTHER

5%


14

Approaches to Curative and Preventive MedicineCurative PreventiveIdentify pathology Identify riskRestore health Decrease riskPromote individual

service ethicResponsibility is to the population

Clinical intervention predominates

Behavioral and social interventions are prominent, accompanied by clinical interventions

Fineberg H. JAMA 2013; 310(1):85-90


15

Health Nucleus: PROACTIVE Curative AND Preventive Medicine

PROACTIVE Curative AND PreventiveIdentify pathology and riskRestore health and decrease riskPromote individual (and family/community) service ethicClinical, behavioral, and social interventions


16

Multi-Modality Data GatheringGenomics Sciences, Historical Context, Quantitative Testing

Whole-genome (30x) Microbiome Metabolomics

Family & Med Hx Social Environmental Nutrition/Exercise

Advanced Imaging (full body MRI, Coronary CT)

Multi-Functional Testing Exhaustive Labs


17

HEALTH NUCLE I CASE STUDY

150GB OVER AN 8 HOUR DAY

CollectedHeath Data(6-8 hr visit)

1. WHOLE BODY• MRI (Musculoskeletal/

Lipid Analysis)• MRI (Organ Specific

RSI)• DEXA Scan• In Body Biometrics• Over 70 Laboratory

Diagnostic Tests• 3D Forensic Imaging

2. SEQUENCING• Whole Genome• Metabolome• Microbiome

3. BRAIN• NeuroQuant® Brain MRI• 3D T2 Brain MRI• Diffusion MRI• Neurocognitive Testing• Quant. Gait Analysis

4. PULMONOLOGY• Pulmonary Function • Testing

5. CARDIO-Vascular• Echo (2D, 3D, 4D)• ECG• CT Scan (Coronary

Calcium Scoring)• 2 Week Ambulatory

Rhythm Testing

2

1

3

4

5


18


Fully-Automated, PACS-Integrated, Volumetric MRI

Alzheimer’sNormal



19

hindered

Magnetic Resonance-Based Restricted Spectrum Imaging for Early Cancer Detection

Cellularity Index

Nathan S. White et al. Cancer Res 2014;74:4638-4652

restricted

Time1/2

Displacement

RSI Model

Time

10 ms 20 ms 60 ms


20


A DYNAMIC EXPERIENCE THAT ALLOWS YOU TO EXPLORE YOUR HEALTH

• Review your report with you and your physician

• Develop a personalized healthcare strategy

• Personal avatar and healthcare record

The Living Avatar Report


21

Genomic & Phenotype Findings to Identify Disease & Predict Risk (n=209)

Cardiovascular

Genomic RiskMendelian GWAS*20 (10%) 79 (38%)

Cancer

Phenotype Findings151 (72%)

78 (37%)3 (1%) 5 (2%)

Metabolic

Neurodegenerative

27 (13%) 24 (11%) 91 (44%)

11 (5%) 26 (12%) 4 (2%)

*Genome-Wide Association Study

Other 64 (31%) 95 (46%) 6 (3%)


22

Medicine has been a clinical science, supported by data.

Medicine is about to become a data science, supported by clinicians.


23 23

PRESENTED TO



24

Technology

"Hacking the Software for Life" - Brad Perkins (Chief Medical Officer, Human Logevity, Inc.)