Innovaciones en la Información de la SaludEl papel de la biblioteca hospitalaria en la 

Medicina de Precisión 

Enrique Caso Peláez MSc.,PhD.,MDOviedo, 4, Abril, 2019

NECESSARY TRANSFORMATION OF THE HEALTHCARE SECTOR

2

Acute care Long‐term‐care

Single DiseasesMultiple chronic 

conditions

Passive Patient Empowered

Institutional care Home care

Generic Approach PersonalisedCare

Challenging times….

European Healthcare systems are no longer sustainable…

A transformation is required, with multiple dimensions

3

Prevention and early risk detection

New therapies and diagnostics

PersonalisedMedicine

New health and care models

High-performance computing

Cloud computing

Artificial IntelligenceInternet of Things (IoT)

Advanced Data-Analytics

mHealth

WearablesTelehealth

Data-driven innovation

Trust

DIGITAL INNOVATION CRITICAL FACTORS

Personalised medicine

"Council conclusions on personalised medicine for patients" of 7 December 2015 (2015/C 421/03)

"Personalised medicine refers to a medical model usingcharacterisation of individuals’ phenotypes and genotypes(e.g. molecular profiling, medical imaging, lifestyle data) fortailoring the right therapeutic strategy for the right person atthe right time, and/or to determine the predisposition todisease and/or to deliver timely and targeted prevention.Personalised medicine relates to the broader concept ofpatient-centred care, which takes into account that, ingeneral, healthcare systems need to better respond topatient needs"

PERSONALISED MEDICINE EU DEFINITION

Recent history of EU activities on Personalised Medicine

2011: European Perspectives conference 2013: Commission Staff Working Document on

"use of '‐omics' technologies in the development of personalised medicine"

2015: Council conclusions on Personalised Medicine2016: Personalised Medicine Conference & Launch ofInternational Consortium of Personalised Medicine(ICPerMed)2017: ICPerMed Action Plan & ERA‐NET ERA PerMed (2017‐2022)2018: ICPerMed 1st Conference in Berlin

PERSONALISED MEDICINE

40 members, including:• Research funders • Health ministries• Science and Education Ministries• Regional authorities

PERSONALISED MEDICINE

Actions in support of ICPerMed

PERSONALISED MEDICINE

HEcoPerMed: To addresses a research need identified by ICPerMed in their Action Plan, namely to support health economics research and assessments of available and newly developed PM approaches 

EULAC‐PerMed: To support the international dimension of ICPerMed, reaching out to newpotential partners; promoting international standards and underpinning the EU‐CELAC politicaldialogue

SAPHIRE: To establish an inclusive network and support interregional collaborations, identifying needs and activities in line with ICPerMed and smart specialisation strategies

Regions4PerMed: To support the regional dimension of ICPerMed and promote personalised healthcare through cooperation and coordination, creating a participatory approach and channelling investments towards Personalised Health

Obama anuncia un plan para financiar la“medicina de precisión”El objetivo de la Casa Blanca es crear unabase de datos genéticos de un millón deciudadanos

Medicina personalizada y deprecisiónAntonio Alarcó, portavoz del PP en la Comisión de Sanidad del Senado

La creación de Rediex va a potenciar la medicina personalizada en España

La medicina de precisión, más allá de la teoría... 

ESTRATEGIAS DE INNOVACIÓN

Estrategia para una transferencia eficiente en ISPA/ FINBA

Health & Healthcare Innovation

Health & Healthcare Innovation

Personalised Precision Medicine (PPM)

e Health, Data Science & Avanced AnalysisPlatform

AppliedBioinformatics

Big Data

Internet of Things (IoT)

Cybersegurity

750 megabytes1% (3 millions)  85% of known diseases

Systems biology is the study of biological systems as collections of networksat multiple levels, ranging from the molecular level, through cells, tissuesand organisms, to the population level.

Systems medicine is the application of systems biology to human disease byusing high throughput technologies – such as DNA and RNA sequencing – toproduce global data sets tracking multiple dimensions of dynamic networkinteraction

Three converging megatrends driving the transformation of healthcare

GENES PROTEINS  FUNCTIONS

PREDICTION

PRECISION

Data origenGENES PROTEINS  FUNCTIONS

SNPs‐GWASWESMicrosatelitesEpigenomicsMicrobiome

RNAseqArraysmicroRNA

ProteomePathways

InteractomeMetabolome

DNA PROTEINS  FUNCTIONS

Next GenerationSequencing (NGS)

+Bioinformatics

• Personal Genomics• Personal enviromics• Personal genetic modifiers• Pharmacogenomics• Nutrigenomics• Microbiome

Bioinformatics

1. Familial Dilated Cardiomyopathy (FDCM) n= 6

2. Familial Generalized Vitiligo and Autoimmune Comorbiditis (FGVAC) n=6

3. Familial Anterior Cruzate Ligament injury (FACL) n=4

4. A “healthy“ family, n=6

1 2I

1 2 3 II

1

III

1 2I

II

1 2 3 4

1 2I

II

1 2

1 2I

II

1 2 3 4

Clinical status of family members.Circles indicates females; squares, males; and a slash, deceased. Filled symbols indicate affected status and open symbols unaffected.

Exploring Personal Genomics In Familial Multifactorial Genetic Diseases Analysed By Integrative Targeted Whole Exome Sequencing Analysis

Nanostructure in the trabecular bone of postmenopausal women: Mechanical and chemical analysis. ManuelToledano, Raquel Osorio, Enrique Guerado, Enrique Caso, Estrella Osorio. Injury. 2017 Nov;48 Suppl 6:S26‐S33. doi:10.1016/S0020‐1383(17)30791‐X.PMID:29162238

Biochemical assessment of nanostructures in human trabecular bone: Proposal of a Raman microspectroscopy basedmeasurements protocol. Toledano M,Toledano‐Osorio M, Guerado E,,Caso E,Aguilera FS, Osorio R. Injury.2018 Jul 29. pii:S0020‐1383(18)30412‐1. PMID:30077357.DOI:10.1016/j. injury.2018.07.034

E. Whole‐exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture. Caso E, MaestroA, Sabiers CC, Godino M, Caracuel Z, Pons J, Gonzalez FJ,Bautista R, Claros MG, Caso‐Onzain J, Viejo‐Allende E, GiannoudisPV, Alvarez S,Maietta P, Guerado Injury. 2016 Sep;47 Suppl 3:S41‐S50. doi:10.1016/S0020‐1383(16)30605‐2. PubMed PMID:27692106.

Inter‐individual gene variants associated with trabecular bone plasticity. A step forward in the personal genomics ofdegenerative bone diseases. Enrique Caso, Cristina Sabiers, Daniel López‐Guillén, Jaime Caso, Manuel Toledano, RaquelOsorio, Carmen Lozano and Enrique Guerado. Injury. 2017 Nov;48 Suppl 6:S12‐S25. doi: 10.1016/S0020‐1383(17)30790‐8.PMID:29162237

References

Data Interoperability

Genomics Counselling

Data Filtering & Interpretation

Data Visualization

Data sharing & Cibersecurity

Primary audiences (PA)(more important) andsecondary audiences (SA)(less important). End users:As shown in following tablethere are different ultimatedissemination end users

Endusers

Utility of results

promtingusers

interest

Usersinvolveme

nt

Barriersand

suggestions

Researchers

SA.Feed-back evaluation

SA PA PA

Healthcare

providers

PA. InterpretationCommunicati

on

. PA PA PA

Ethicialand Legal profession

als

PA. Ethics and

Legal issues Evaluation

PA PA PA

Patients PA. Comprehensive personal

understanding

PA SA PA

Individuals (society)

SA. Comprehensi

ve Social understandin

g

PA SA PA

Target audiences

The Precision Medicine Growing Ecosystem

Patients Clinicians

Electronic Health Records

Biospecimens

Researchers Research Data

Curated Database

Clinical Labs

Family HistoryExposomesEnviromeGenotypesPhenotypesOutcomes

Adapted from Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine. Nature. 2015 Oct 15;526(7573):336–42. [PMC free article] [PubMed] [Google Scholar]

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The Precision Medicine Growing Ecosystem

Patients Clinicians

Electronic Health Records

Biospecimens

Researchers Research Data

Curated Database

Clinical Labs

Family HistoryExposomesEnviromeGenotypesPhenotypesOutcomes

Adapted from Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine. Nature. 2015 Oct 15;526(7573):336–42. [PMC free article] [PubMed] [Google Scholar]

Data Mangement Roles for Hospital Library

Data management forinformed decision making

Scholarly research product

Exploring data use and data support

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Bioinformaticians

MUCHAS GRACIAS