El 29 de marzo de 2016 celebramos un Simposio Internacional sobre el 'Impacto de las ciencias ómicas en la medicina, nutrición y biotecnología'. Organizado por la Fundación Ramón Areces en colaboración con la Real Academia Nacional de Medicina y BioEuroLatina, abordó cómo un mejor conocimiento del genoma humano está permitiendo notables avances hacia una medicina de precisión.

1. Biochempowered Public Health:
Genomics and more, an integral approach for the
prevention and management of T2D
29 de marzo 2016Oscar Rodriguez
Business Development Director
Orodriguez@patiadiabetes.com
www.patiadiabetes.com
1
IMPACTO DE LAS CIENCIAS OMICAS EN LA
MEDICINA, NUTRICIÓN Y BIOTECNOLOGIA

2. Diabetes Pandemia
Sources:
www.who.int
www.cdc.gov
www.idf.org
www.fmdiabetes.org
Patients
WW2013: 385 M
WW2030: 550 M
US2000: 12 M
US2012: 21 M
USprediabetics2012: 86
M
MX2013: 6.5 M
EU2011: 53 M
Annual Cost
WW2013: $548 B
US2012: $ 245 B
($ 176 B direct costs)
MX2013: $ 3.5 B
EU2011: $ 130 B
Obesity Physical
inactivityGenetic
traits
Patia, a biochemistry-empowered public health company,
integrates genomics knowledge and technology,
to prevent and manage the Type 2 Diabetes pandemia
4/5/2016 2

3. The Rule of Halves helps to understand the prevalence of T2D,
and the need for prevention and early diagnosis
Int J Diabetes Dev Ctries March 2012, 32(1):4–6)
4/5/2016 3

4. Diabetes evolution, prevention, management
Fast in Glucose
Insulin Production
*Adapted from Insulin resistance, by Cefalu WT. In: Leahy J, Clark N, Cefalu WT, eds. The Medical Management of Diabetes
Mellitus. (2000)
Insulin Resistance
Healthy Prediabetes Type 2 Diabetes
-------126 mg/dl
Age (years)
------- 100 mg/dl
DIABETESpredict/prevent DIABETESmanager
FPG, OGTT, HbA1C
*
44/5/2016

5. Biochemistry – empowered Diabetes Public Health
Internet
Tools
Metabolomic
Tools
HTP Genomic
Tools
Diabetes Risk SNPS*
Diabetes Drug Response SNPs**
Diabetes Nefropathy-Retinopathy Risk SNPs
Gestational Diabetes Risk SNPs
SIGMA
2010-2016
$ 140 M
Diabetes Public Health Solutions
Management
Prevention
Treatment
*Nature. 2013. 506(7486):97-101.
**JAMA. 2014. 311(22):2305-14
usa
2016
eurasia
2015
OTC
Tools
4/5/2016 5

6. Diabetes Prevention and Management
METABOLOMIC TOOLS
DIABETES managerNN
DIABETES pregest
IT TOOLS
Antidiabetic
small molecules
THERAPEUTIC TOOLS
GENOMIC TOOLS
DIABETES managerDR
4/5/2016 6

7.  Type 2 Diabetes genetic risk assessment
4/5/2016 7

8. Assessment of the Genetic Risk of T2D
Genetic loci associated to T2D in the global population (Diabetes Care 2013: 36:1413)
New genetic locus identified in latino populations (Nature 2014: 506, 97–101)
4/5/2016 8

9. What is DIABETESpredict?
• It is a personalized analysis for genetic risk assessment of T2D
• It analyzes the main genetic variants, or polymorphisms, associated
with T2D, taking into account multi-ethnic associations
• It genotypes variants in genes: SLC16A11, HNF1A, TCF7L2,
CDKN2A / B, CDKAL1, SLC30A8, IGF2BP2, FTO, PPARG, HHEX /
IDE, ADCY5, JAZF1, WFS1, INS-IGF2, KCNQ1, KCNJ11
Reasons for Use/Medical Application
• DIABETESpredict is a fast and reliable tool for assessing the
individual's specific genetic predisposition to T2D. Its use is key in
preventing or delaying the onset of T2D.
• DIABETESpredict can help children and adults, with risk factors such
as overweight and family history of T2D.
• DIABETESpredict could be incorporated in public health programs for
diabetes prevention.
Assessment of the Genetic Risk of T2D
4/5/2016 9

10. • Platforms
DIABETESpredict uses gold standard genotyping platforms: TaqMan OpenArrays and Dynamic IFC
Arrays
• Timeline for Results
In local lab: 1day
In reference lab: 2 weeks
• Sample requirements and Shipping
1) Buccal swab sample: the swab must be shipped in its original tube. Shipment is performed at
room temperature, not exceeding 25°C.
2) Blood sample: 2-5mL of venous blood collected by usual flebotomy into a tube with EDTA.
Shipment is performed at 4°C, in dry ice.
3) DNA sample: DNA must be eluted and shipped in TE buffer (1M TrisxCl, pH 7.4; 0.5M EDTA, pH
8.0), with purity of A260/280 = 2, and at concentration of ≥10 ng/mL. Shipment is performed at
room temperature, not exceeding 25°C.
Method
4/5/2016 10

11. QuantStudio 12K (Life/Thermo)
• Technology: OpenArray TaqMan
• Robust, efficient, economical
• 99% call rate and 99.5% accuracy
• Up to 110,000 data points in an 8 hour day
• Up to 1,700 samples processed/day/instrument
• Genotyping results can be obtained in about 3 hours
• Scalable workflow
• Low cost per data point—fewer SNP assays against high
number of samples
• Starting material: genomic DNA, at ≥10 ng/mL
• Microchip formats: 16 SNPs x 144 samples, 32 SNPs x 96
samples
• Technology: Dynamic Arrays IFC (Integrated Fluidic Circuits)
• Robust, efficient, economical
• 99% call rate and 99.75% accuracy
• Accelerated Workflow—delivers 4,608 SNPs in one hour
• Low cost per data point—uses fewer SNP assays against
high number of samples
• Genotyping results can be obtained in about one hour and
five times more IFCs can be run in a single day. Up to
sixteen 192.24 chips can be run in one day. Up to 3,000
samples processed/day/instrument
• Starting material: genomic DNA, at ≥10 ng/mL
• Microchips format: 24 SNPs x 192 samples
EP1 (Fluidigm)
Technology platforms
4/5/2016 11

12. Results report
4/5/2016 12

13. From Genetic Variants to Biology to Predisposition to Type 2 Diabetes
Reduced number
of beta cells in
pancreas
Reduced function
of beta cells in
pancreas
Dyslipidemia
Obesity/increased
BMI/hypothalamic
dysregulation
Insulin
resistance not
caused by
obesity
CDKAL1,
CDKN2A/2B, INS-
IGF2
HNF1a, TCF7L2, HHEX/IDE,
SLC30A8, KCNJ11, KCNQ1,
IGF2BP2, WFS1, ADCY5,
JAZF1
FTO PPARG SLC16A11
Predisposition to diabetes
Insulin production is reduced Insulin resistance increases
Body cells cannot uptake and use glucose without insulin
DIABETEpredict
detects
Polymorphisms in
these genes
Cellular processes
impacted
Effect on Insulin
Effect on glucose
N Engl J Med 2010; 363:2339-2350.
Diabetes 2014; 63(6):2158-71.
Nature. 2014 Feb 6;506(7486):97-101.
JAMA. 2014 Jun 11;311(22):2305-2314.
PLoS Genet 2015;11(12): e1005694.

14. WEB + APP DIABETESPrevent MY PROFILE
PERFIL
Mi perfil permite al usuario registrar todos sus datos e historial médico-
Acceso rápido información básica.
Desde la app se podrá gestionar la misma información.
TRATAMIENTOS
Registro tratamientos y pautas médicas
Seguimiento continuo y accesible en todo momento.
MIS INFORMES
ARCHIVO informes médicos (PDF):
• Diagnósticos
• revisiones,
• pruebas, etc.
APP uso de la cámara para subir informe.
COMPARTIR HISTORIAL
Usuario puede compartir toda o parte de la información médica con un tercero = códigos
de acceso independientes con un tiempo de vigencia determinado.
QR EMERGENCIAS
Código QR imprimible que sirve de enlace a información personalizable (privacidad) por
el paciente

15. WEB + APP diabetesprevent PHYSICAL ACTIVITY & HEALTH
EJERCICIO
PODÓMETRO
RETOS
La consecución del reto puede ser premiada con puntos, medallas, descuentos,…
Retos con 150 medidas (escaleras subidas, tazas caféé, piezas fruta…
PATIA conocerá, entre otros datos, los usuarios que culminan con éxito sus retos.
Retos del tipo correr/ciclismo… se puede realizar mediante el “tracking” del
SMARTPHONE
PARÁMETROS ANTROPOMÓRFICOS Y BIOQUÍMICOS
Seguimiento personalizado de valores:
• Peso,
• A1C,
• QUANTOSE IR
• FINRISK.
• … Puede darse de alta otros indicadores
• GRÁFICAS de evolución.
CONECTIVIDAD SMARTPHONE automáticamente
O WEARABLE propio

16. WEB + APP diabetesprevent NUTRITION
NUTRICIÓN
• CONTROL Y MEJORA alimentación,
• PAUTAS alimentación saludable,
• CONOCER valores nutricionales de sus comidas, etc.
• REGISTRO FÁCIL y GRÁFICOS explicativos.
• SEGUIMIENTO VALORES NUTRICIONALES diferentes ingestas diarias seleccionando el alimento
y la cantidad.
NUTRICIÓN TROPICALIZADA
MI CALENDARIO
Registro cualquier tipo de medición que inserte el usuario.
Además, el usuario puede añadir citas y recordatorios,

17. Market
Insurance Cos
Pharmacies
Patient
Associations
DOCTOR
PATIENT
SOCIAL
NETWORK
Insurance Cos
Hospitals
Government
Prevention Plans
analogic
digital
Reference Labs
4/5/2016 17

18.  Gestational Diabetes risk assessment
DIABETESpregest
4/5/2016 18

19.  DIABETESmanagerDR: Diabetes drug response prediction
DIABETESmanagerDR
4/5/2016 19

20.  Diabetic nephropathy and retinopathy risk
DIABETESmanagerNR
4/5/2016 20

21. Reference labs
4/5/2016 21

22. 4/5/2016 22