Biological Nanostructures: 1. 2 Biochemistry Biolog. Nanostructures.
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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...
Personalised Precision Medicine (PPM)
e Health, Data Science & Avanced AnalysisPlatform
AppliedBioinformatics
Big Data
Internet of Things (IoT)
Cybersegurity
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
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
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