Toepassing van Big Data in de Zorg

Transcription

1 Toepassing van Big Data in de Zorg Miha Lavrič Chintan Amrit

2 Belangen (potentiële) belangenverstrengeling UT, MRDM, IKNL Voor bijeenkomst mogelijk relevante relaties met bedrijven Sponsoring of onderzoeksgeld Honorarium of andere (financiële) vergoeding Aandeelhouder Andere relatie, namelijk 2

3 Inhoud What is BIG Data? Big Data in Healthcare Decision Support, Machine Learning, Artificial Intelligence Privacy? In the Context of Healthcare In the Context of PNS 20w ultrasound Heel Prick The Future 3

4 How big is BIG DATA? The 3 V s! Volume ebay two data warehouses, totaling 47.5 PB (10 15 /2 50 bytes) AND a 40 PB Hadoop cluster (search / recommend/ merchandize) Velocity Walmart handles > 1 million customer transactions/hour. Twitter produces over 90 million tweets per day. Variety Much more than rows and columns (aka structured data). Unstructured data: text, video, audio. Source h-data-is-big-data 4

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19 Deep learning An interdisciplinary field that deals with how computers can be made for gaining high-level understanding from digital images or videos. Uses in healthcare: 1. Computer assisted image enhancement, positioning. 2. Automatic highlighting of features. 3. Analytical recommendation. 20

20 The black box of deep learning LabED68 21

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22 Big Data in Healthcare 1. Value-Based, Patient-Centric Care (DSS) 2. The Healthcare Internet of Things 3. Reducing Fraud, Waste, and Abuse 4. Predictive Analytics to Improve Outcomes (ML, AI, precision medicine) 5. Real-time Monitoring of Patients 23 Source:

23 Healthcare Big Data Challenges (Trends 2018) 1. Healthcare analytics skills shortage (continuous education of ultrasound specialists / midwives). 2. Healthcare data privacy. 3. Improving data accessibility. 4. Adoption of connected devices and wearables. Source: 24

24 Ultrasound PNS / NBS Heel prick 26

25 11-14 weeks - T21 (Down), T18 (Edwards), T13 (Patau syndrome) 94.4 % of accuracy for NT image classification. (Sonia, Shanthi. IJET, 2014) The adoration of the Christ Child (The Meister? van Cleve OR van Wueluwe), 1515) - Levitas, Reid CS. Am J Med Genet A, 2003

26 The 20 week anomaly scan Spina bifida Anencephaly Hydrocephalus Heart defects Hole or rift in the diaphragm Hole or rift in the abdominal wall Missing or malformed kidneys Missing or malformed bones Malformed arms and legs 28

27 NBS - The heel prick 29

28 19 (NL) conditions screened versus >46 (US) Adrenogenitaal syndroom (AGS) Alfa-thalassemie Bèta-thalassemie Biotinidase deficiëntie (BIO) Congenitale hypothyreoidie (CH) Cystic fibrosis (CF) Galactosemie (GAL) Glutaaracidurie type 1 (GA-1) HMG-CoA-lyase deficiëntie (HMG) Isovaleriaan-acidurie (IVA) Long-chain hydroxyacyl-coa dehydrogenase deficiëntie (LCHADD) Maple syrup urine disease (MSUD) Medium-chain acyl CoA dehydrogenase deficiëntie (MCADD) 3-Methylcrotonyl-CoA carboxylase deficiëntie (3-MCC) Multiple CoA carboxylase deficiëntie (MCD) Phenylketonurie (PKU) Sikkelcelziekte (SZ) Tyrosinemie type 1 (TYR-1) Very long-chain acylcoa dehydrogenase deficiëntie (VLCADD) Recommended Screening Panel (2017) 34 primary conditions 20 IEM detected by MS/MS (AA, FAO, OA) 2 Lysosomal disorders (Pompe, MPS I) 3 Hemoglobinopathies (S/S, S/βThal, S/C) 9 others (BIOT, CAH, CF, CH, GALT, HEAR, SCID, CCHD, X-ALD) 27 secondary targets 22 IEM detected by MS/MS (AA, FAO, OA) 1 Hemoglobinopathy (many variants counted as 1) 4 others (GAL-epimerase, GAL-kinase, other T-cell def., DPB) More planned: Acid lipase deficiency, Amino acid disorders (9+), B-C ketoacid DH kinase def., Carbonic anhydrase VA def., Lipoic acid synthetase def., Proximal urea cycle defects, Remethylation disorders, 3-Phosphoglycerate DH def., Duchenne muscular dystrophy, Fragile X, GAMT deficiency (AGAT, CTD), Hyperbilirubinemia, Infectious diseases, CMV, HIV, Toxoplasmosis, G6PD deficiency, Lysosomal disorders, Fabry, Gaucher, Krabbe, NPAB, Galactosialidosis, MLD, MPS II-III-IV- VI, Metal disorders, Friedreich ataxia, Menkes disease, Molybdenum cofactor def., Wilson disease, NCL2 (TPP1 deficiency), Spinal muscular atrophy, Sterols disorders, CTX, Familial hypercholesterolemia, SLO 30

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30 MS, Luminex, ELISAs?...Multiplexing! 32

31 The potential for more - Nature s Big Data! Our own (human) BIG DATA (aka The Omics ) Genome - ~3,289,000,000 bp (~20,000 genes) Proteome ~90,000 proteins (~70,000 splicing variants) Metabolome - ~110,000 metabolites known to date Microbiome - > 10,000 species, 360x more genes than humans interesting fact: a shift to less species diversity in vaginal microbiome of pregnant women in preparation for birth

32 The cost of a gene... Just a drop of blood... Exome (gene) sequencing 3-4 weeks (min 3-4d) $400 to $500 net. Genome sequencing 2-8 weeks (min 7-10d) $1,000 to $1,200 net. Prices exclude operational costs (overhead, labour, analysis, interpretation, report writing, and regulatory compliance). me-sequencing-breaksrecord/ 34

33 What to do with all that private data? 35

34 GDPR! General Data Protection Regulation (changes > 2016) Increased Territorial Scope (extra-territorial applicability). Penalties (up to 4% global turnover or 20 million EUR). Consent must be clear and distinguishable, opt. withdrawal. Breach Notification within 72h of first awareness. Right to Access. Right to be Forgotten (aka Data Erasure). Data Portability. Privacy by Design! Data Protection Officers (staff or external, reports to DPA) 36

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38 Market analyses and research 40

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42 PIHC project Value Based Health Care in Breast Cancer Follow-Up TURBO project From Genetics to Immune Response: A Neural Network Approach 44

43 Small Data 45