10 éven belül valóra válhatna az a még kissé futurisztikusnak tűnő kép, hogy mindenkiről egy genetikai polimorfizmus adattár áll rendelkezésre mondjuk a háziorvosnál

1. THE THESIS - September 12, 2015.
“Egyes szakértők szerint 10 éven belül valóra válhatna az a még
kissé futurisztikusnak tűnő kép, hogy mindenkiről egy genetikai
polimorfizmus adattár áll rendelkezésre mondjuk a háziorvosnál,
az beírja a komputerébe, hogy milyen hatású gyógyszert szeretne
felírni az adott betegnek, majd a gép megadja, hogy melyik
konkrét gyógyszer vagy gyógyszerek a leghatásosabbak, vagy
lesz a legkevesebb, és legkevésbé veszélyes mellékhatásuk az
adott genetikai mintázattal rendelkező betegnél.”
1
Prof. Dr. Szalai Csaba
Semmelweis Egyetem, Általános orvostudományi Kar,
Genetikai, Sejt - és Immunbiológiai Intézet Intézetvezető helyettes
1. According to publication of Prof. Dr. Csaba Szalai (http://gyogyhirek.hu/farmakogenomika-a-jovo-igerete/)

2. Judit Alföldi
Invenshure Hungary LLC.

3. OUTLINE
● Introduction
● OneOme solution - Patient's perspective
● OneOme Pharmacogenomics Report (PGx)
● OneOme solution - Doctor's perspective
● Technical background
● About Invenshure and Invenshure Hungary LLC.

4. DEFINITIONS
● Genetics - the study of genes and genetic variation
- mostly one gene
● Genomics - study of the whole genome - mostly
more than one gene
● Pharmacogenetics - the study of the role of
genetics in drug response - mostly one gene
● Pharmacogenomics - the study of the role of
genetics in drug response - mostly more than one
gene

5. GOALS OF PHARMACOGENOMICS
● Drug discovery and development
● Reveal adverse drug reaction

6. PHARMACOGENOMICS
Human genome project (1999-2003) 1
~ 3 300 000 000 DNA base pairs
~ 20.000 genes
~ 400 are target genes for drugs
~ 23 genes covering around 340 drugs
1.
http://www.ensembl.org/Homo_sapiens/Info/StatsTable

7. THE PROBLEM - DRUGS
>4 Billion 1
~48% Do not work as intended2
>95% of drug - response variability and
susceptibility depends on genetic factors
1. According to IMS Institute for Healthcare Informatics
2. Spear BB, Heath-Chiozzi M, Huff J. Trends Mol. Med.7, 201–204 (2001).

8. THE PROBLEM - ADR’s
NIH estimates ADR’s account for as much as
● ~7% of all admissions
● > 20% readmissions
● 4th leading cause of death
● > $130B the annual cost of ADR’s (estimated
by the FDA) 1
1. http://www.fda.gov/Drugs/DevelopmentApprovalProcess/DevelopmentResources/DrugInteractionsLabeling/ucm110632.htm

9. OUR MISSION
Provide the
● Most Cost-effective,
● Comprehensive,
● Personalized,
Pharmacogenomics analysis that identifies
optimal drug therapy for individual Patients.

10. OUTLINE - STEP
● Introduction
● OneOme solution - Patient's perspective
● OneOme Pharmacogenomics Report (PGx)
● OneOme solution - Doctor's perspective
● Technical background
● About Invenshure and Invenshure Hungary LLC.

11. PATIENT’S PERSPECTIVE
STEP 1:
Doctor orders the
test
STEP 2:
Patient provides
cheek swab
sample
STEP 3:
Patient or doctor
activates the kit
online
STEP 4:
OneOme processes
the sample & returns
report to the doctor
OneOme video

12. OUTLINE - STEP
● Introduction
● OneOme solution - Patient's perspective
● OneOme Pharmacogenomics Report (PGx)
● OneOme solution - Doctor's perspective
● Technical background
● About Invenshure and Invenshure Hungary LLC.

13. OneOme REPORT - USE WITH CAUTION
Content:
● Patient’s personal information
● Main categories with those drugs which
must be used with great caution
according to patient’s genotypes
● Main categories with those drugs which
must be used with caution according to
patient’s genotypes
● L1, SL, SH, T marks

14. OneOme REPORT - USE AS DIRECTED
Content:
● Main categories with those drugs which
can be used as directed according to
patient’s genotypes

15. OneOme REPORT - GENOTYPES
Content:
● Genes with their genotypes which might
affect phenotype and metabolism,
○ metabolism (CYP) could be normal,
decreased or increased
○ Genotype might cause normal
response or increased risk in
phenotype
○ CYP3A4, CYP3A5, CYP2C9,
CYP2D6

16. OneOme REPORT - CYP ENZYMES
Content:
● CYP enzymes are encoded by CYP
genes responsible for metabolism and
elimination of clinically used drugs
● CYP enzymes could be inducers or
inhibitors
● Relation between examined drugs and
CYP enzymes are shown in the list

17. OUTLINE - STEP
● Introduction
● OneOme solution - Patient's perspective
● OneOme Pharmacogenomics Report (PGx)
● OneOme solution - Doctor's perspective
● Technical background
● About Invenshure and Invenshure Hungary LLC.

18. THE WEB PORTAL
Provides a web interface for
○ Institution (Institutional teams),
○ Providers,
○ Patients
to
○ View,
○ Order,
○ Activate,
○ Interact
with the report of genetic result.

19. THE WEB PORTAL - SIGN IN
● Different login form for
○ Provider,
○ Patient and
○ Admin
● User Session management
provided by Flask-Login
● OAuth2 authentication for
Admins (LIMS, Scientists)
● Password meets HIPAA
regulations
● Users are stored in database

20. THE WEB PORTAL - ORDERS
● List all orders associated with
Provider’s clinical team
● The list is searchable
● The doctor can
○ create an order,
○ review an order,
○ manage an order and
○ interact with the result of the
PGx report.

21. THE WEB PORTAL - ORDER STATUSES
● Each orders has statuses,
○ Test ordered
○ Payment pending / received
○ Kit shipped ( if necessary )
○ Kit activated
○ Arrived at laboratory
○ Sample is processing
○ Report generated
● Doctor can
○ Download the generated report,
○ Explore the generated report (Drug explorer)

22. THE WEB PORTAL - DRUG EXPLORER
● Drugs are grouped by diseases
● List drugs which are correspond to
the patient’s PGx Report
● Search and add drugs by name or
indication
● Search and review patient’s
Medication history provided by
SureScripts
● Indications are marked with icons
● Possibility to generate report

23. THE WEB PORTAL - DRUG ALTERNATIVES
● Drug overview explains the reason of caution
● Offers alternatives of the selected drug,
○ Use as directed,
○ Use with caution
○ Use with great caution
● Possibility to add alternative drugs to drug list

24. THE WEB PORTAL - DRUG TO DRUG INTERACTION
● Drug / Drug interaction information
from Wolters Kluwer database
● Summary view of all drug / drug
interactions
● Detailed view of each drug / drug
interaction

25. OUTLINE - STEP
● Introduction
● OneOme solution - Patient's perspective
● OneOme Pharmacogenomics Report (PGx)
● OneOme solution - Doctor's perspective
● Technical background
● About InvenShure and Invenshure Hungary LLC.

26. TECHNICAL BACKGROUND - ENVIRONMENTS
● Development
○ Local environment
○ Docker-compose / Docker
○ MariaDb
● Staging / Testing and Production
○ Cloud environment (Amazon services)
■ Elastik (Load Balancer)
■ Private Subnet for Web portal
■ RDS for MariaDB

27. THE SYSTEM
● Web portal with LIMS
(Laboratory Information
Management System) are the
basic interfaces
● Salesforce is a CRM
● BrainTree responsible for
payments
● SureScripts responsible for
medication history
● Databases

28. THE WEB PORTAL - SOFTWARE INFRASTRUCTURE
● Utilizes the Python 3 framework and uses MariaDB
● Uses the following packages
○ Flask - a microframework for Python based on Werkzeug, Jinja 2
○ Flask-Bootstrap - HTML, CSS, and JavaScript framework for Flask
○ Flask-Login - provides user session management for Flask
○ Flask-Mail - provides an interface to set up SMTP and send messages
○ Flask-OAuth2-Login
○ Flask-Script - provides support for writing external scripts in Flask
○ Flask-SQLAlchemy - adds support for SQLAlchemy
○ Flask-Admin - provides support to building an admin interface on top of
an existing data model
○ SQLAlchemy - Python SQL toolkit and Object Relational Mapper
○ WTForms, Jinja2 , NodeJs

29. OUTLINE - STEP
● Introduction
● OneOme solution - Patient's perspective
● OneOme Pharmacogenomics Report (PGx)
● OneOme solution - Doctor's perspective
● Technical background
● About Invenshure and Invenshure Hungary LLC.

30. THE COMPANY

31. QUESTIONS?
Confidential. OneOme 2016.