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헬스케어 빅데이터로 무엇을 할 수 있는가?
연구와 임상 적용 경험을 중심으로
(유전체, 전자의무기록, 건강보험청구자료, 영상, 센서/모바일)
Contents
1. What is Healthcare Big Data?
2. Healthcare Big Data
① Genetic Data
② Electrical Health Records
③ National Healthcare Data
④ Medical Images
⑤ Sensor/Mobile Data
3. Clinical and Research Applications
미국 내분비 학회
미국 골대사 학회
What is Big Data?
Big Data Dimensions
New Analysis Tool (R, Python, Matlab)
New Approach
Big Meal?
Data Variety
Tipping Point for Big Data Healthcare
2013 McKinsey The big data revolution in healthcare
Data Science Big Data
Hypothesis Driven Science Data Driven Science
Hypothesis
Collect
Data
Data
Generate
Hypothesis
Analyze
Analyze
Candidate Gene
Approach
Genome-wide
Approach
Choose a Gene
from Prior Knowledge
Analyze the Gene
Analyze ALL Genes
Discover Novel Findings
GWAS
(Genome wide association study)
SNP chip
Whole Genome
SNP Profiling (500K~1M SNPs)
Common Variant
Estrada et al., Nature Genetics, 2012
+ novel targets
for bone biology
Recent largest GWAS
GEFOS consortium
2010 An Environment-Wide
Association Study (EWAS) on Type
2 Diabetes Mellitus
Environment-Wide Association Study (EWAS)
 다양한 환경인자들 
GWAS  PheWAS
Phenotype-wide Association Study
1000 개의 질병들
Bioinformatics. 2010 PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.
Phenotype-wide Association Study
Genome-wide Phenome-wide
Association Study
Phenome-wide
(Lab,Diagnosis)
Proposal
(Choi)
Genome-Envirome-Phenome-wide
Association Study
Phenome-wide
(Lab,Diagnosis)
Proposal
(Choi)
Genome-wide
Environment-wide
(Life style, diet, exercise, pollution)
Anatome-Phenome-wide
Association Study
2015.2.19. Nature. Genetic and epigenetic fine mapping of causal autoimmune disease variants
Phenome
Anatome
헬스케어 3.0 시대의 변화 키워드
2011.11.23 헬스케어 3.0: '건강수명' 시대의 도래
주: 선의 굵기는 영향의 강도를 의미
$215MPrecision Medicine Initiative
2015/1/30
Contents
1. What is Healthcare Big Data?
2. Healthcare Big Data
① Genetic Data
② Electrical Health Records
③ National Healthcare Data
④ Medical Images
⑤ Sensor/Mobile Data
3. Clinical and Research Applications
DNA
mRNA
Protein
Metabolite
Epigenetics
Genetics Information and OMICs
Genomics
Epigenomics
Transcriptomics
Proteomics
Metabolomics
DNA
mRNA
WBC Liver Cancer
Germline mutation Somatic mutation
Epigenomics
Proteomics
Metabolomics
Epigenomics
Proteomics
Metabolomics
Epigenomics
Proteomics
Metabolomics
Metabolomics
Germline
Genomics
Cancer
Genomics
Transcriptomics Transcriptomics Transcriptomics
Proteomics
Diabetes and Epigenetics Study
Diabetes
Diabetic
Complications
Epigenetic change 1. Cause of
Diabetes
Food
Exercise
Genetic
Predisposition
Environmental
Predisposition
Epigenetic change
2. Result of
Diabetes
Next Generation Sequencing (NGS)
Genetic Variation Analyses
SNP genotyping
Gene A Gene B Gene C
Sequencing
Whole genome
sequencing
Whole exome
sequencing
(1.5%)
SNP Chip
Combined P = 4.1×10-7
Stage 1 P = 1.2×10-5
Bone Mineral Density GWAS
Korea
Ansung
Chinese
Stage 1
Discovery
(N=2729)
Stage 2
Replication
(N=4784)
SNPs
328,918 European1
European2
GWAS
Choi, PhD doctoral thesis (2013)
1 2 3
0.70
0.75
0.80
0.85
BMD(g/cm2
)
AA
(n=1158)
AG
(n=382)
GG
(n=40)
Femur neck BMD
High glucose
Low glucose
WBC
Plasma
0
50
100
150
200
250
300
Fasting 1hr 2hr
W
B
C
W
B
C
W
B
C
Metabolite
Cytokine
Gene Expression
Genotype
glucose
PO Glucose
Epigenetic change
Choi, et al.
Physiological Genomics (2012)
Human Blood, Cell Biospecimen Study
Microarray
16 cytokines: ELISA kit
Choi, et al. DRCP (2013)
N=60
Transcriptome Response to Hyperglycemia
Interleukin 8
0 1 2
0.4
0.5
0.6
0.7
0.8
0.9
1.0
1.1
IL8
IL8
Hour
Foldchange
Chemokine (C-C motif) ligand 3
0 1 2
0.5
0.6
0.7
0.8
0.9
1.0
1.1
CCL3L1
CCL3L1
CCL3L3
CCL3
Hour
Foldchange
PRF1
GZM
PRF1 PRF1
GZM
KLR
KIR
CX3CR1
Interleukin
2 receptor,
beta
CCL3
PTGS2
(COX-2)
GNLY
NKG7
TGFBR3
FOS
OSM
Natural killer cell
receptors and
related genes
Perforin complex
Chemokine/Interleukin family
Other
inflammation
mediators
Target cells
(e.g. pancreatic beta-cell,
endothelium, adipocyte etc.)
White blood cells
Interleukin 8
Microarray (N=60x3)
Choi, et al. Physiological Genomics (2012)
Postprandial Change of Cytokine
Concentrations during OGTT
b
a a
Leptin
b
c
Time P < 0.05
Interaction P < 0.05
a
a
TRX
Time P < 0.05
Interaction P < 0.05
c
a a
IL8
Time P < 0.05
c
Adiponectin
c
Normal
Prediabetes
Diabetes
Choi, et al. DRCP (2013)
TRX (thioredoxin)
Metabolomics Profiling
• Quantification of 186 metabolites
– Acylcarnitines
– Amino Acids
– Biogenic Amines
– Hexoses (sum of Hexoses)
– Phospho and Sphingolipids
• Phosphatidylcholines
• LysoPhosphatidylcholines
• Sphingomyelin
Choi et al, on going
Tissue Specific Expression
Comprehensive Catalogues of Genomic Data
Variation in the human genome
Mendelian (monogenic) diseases
(N=22,432)
Whole genome sequencing (N=1,000)
Four ethnic groups
(CEU, YRI, JPT, CHB, N=270)
GWAS catalog
Complex (multigenic) traits
(1926 publications and 13410 SNPs)
Disease-related variations
Functional elements
2014-06-29
Adult/Fetal Tissues and Blood Cells
mass spectrometry- 17,294 genes
(N=36)
2014 Nature A draft map of the human proteome
http://www.humanproteomemap.org/
2015 Science Tissue-based map of the human proteome
Tissue-based map of the human proteome
All Major Tissues/Organs
All Proteins + All RNAs
2015 Science Tissue-based map of the human proteome
1. Immunohistochemistry (IHC)
24,028 antibodies
(16,975 proteins)
 >13 million IHC images
2. RNA-sequencing
(N=44)
http://www.proteinatlas.org/
http://www.proteinatlas.org/
http://www.proteinatlas.org/
http://www.proteinatlas.org/
http://www.proteinatlas.org/
http://www.proteinatlas.org/
111 Reference Human Epigenomes
2015.2.19. Nature. Integrative analysis of 111 reference human epigenomes
Data Dimensions
2015.2.19. Nature. Integrative analysis of 111 reference human epigenomes
2015.2.19. Nature. Genetic and epigenetic fine mapping of causal autoimmune disease variants
Building the Interactome
2015 Science Uncovering disease-disease relationships through the incomplete interactome
Network-based Model of
Disease-disease Relationship
2015 Science Uncovering disease-disease relationships through the incomplete interactome
Genome-wide Profiling Human Genome(DNA) Study
Transcriptomics
Proteonomics
Metabolomics
GWAS, Candidate gene study
Familial study
Linkage study
Genomic Study
Genomic Medicine
Novel Variant(SNP) DiscoveryNovel Target Discovery
GENE for everyone VARIANT based individualization
Non-responder of treatment
Severe side effect
Anti-oxidant
Monoclonal antibody for osteoporosis
Genetic counseling for rare diseases
Sensitive urine test, DM subtype
Mendelian disease risk
High risk of future osteoporosis
High risk of DM complications
Diagnosis
Treatment
Prevention
Common Disease Risk
Rare Disease Risk
Therapeutic Option
Novel Disease Target Personalized Medicine
저의 유전자
분석 결과를
반영하여 진료
해주세요!! 헠?
Disease genetic susceptibility
Cancer driver
somatic mutation
Pharmacogenomics
Targeted
Cancer Treatment
(EGFR)
Causal
Variant
Targeted Drug
(MODY-SU)
Drug Efficacy/Side Effect
Related Genotype
(CYP, HLA)
Genetic Diagnosis
(Mendelian,
Cystic fibrosis)
Molecular
Classification
- Prognosis
(Leukemia)
Hereditary
Cancer
(BRCA)
Microbiome
(Bacteria,
Virus)
Personalized Medicine
Risk prediction
(Complex disease,
Diabetes)
Germline Variants
Cancer Targeted Therapy
Targeted TherapyGenetic TestCancer
2013.04.04
“유전체를 기반으로 한
맞춤형 항암치료를
5년 내 시작하겠다”
“5년 안에 모든 암환자
맞춤치료 실현하겠다”
2013.06.24
Germline Genomic Medicine
• Disease Susceptibility
– Common Complex Disease
– Rare Mendelian Disease
• Pharmacogenomics
2013.4.25. KBS 9시 뉴스
며칠 전 유전자 검사를 받은 40대 남성입니다.
혈액세포의 DNA 상태를 분석해 앞으로 암에 걸릴 위험이 있는지 여부를 판단할 수 있다
고 합니다.
2013.4.25. KBS 9시 뉴스
2013.4.25. KBS 9시 뉴스
60년전 DNA의 구조가 밝혀진 이래 2003년 인간 유전자 지도가 완성됐고, 현재는 어떤 유
전자가 어떤 질병을 일으키는지 분석도 80% 정도 끝난 상태입니다.
예를들어 13번 염색체의 BRCA2 유전자에 이상이 생기면 유방암에 걸릴 확률이 높습니
다. 또 17번 염색체 유전자는 난소암, 7번 염색체 유전자는 비만을 일으킵니다.
30만원-200만원
(출처: 금창원 대표님 블로그)
$99
TV CF
FDA Halt 23andMe
2013.11.22.
 2015.2.20. FDA Bloom Syndrome mutation 검사 23andMe 승인
Influence of Genetics on Human Disease
For any condition the overall balance of g
enetic and environmental determinants ca
n be represented by a point somewhere w
ithin the triangle.
75
Single
Locus /
Mendelian
Multiple
Loci or multi-
chromosomal
Environmental
Cystic Fibrosis
Hemophilia A
Examples:
Alzheimer’s Disease
Type II Diabetes
Cardiovascular Disease
Diet
Carcinogens
Infections
Stress
Radiation
Lifestyle
Gene = F8
Gene= CFTR
F8 = Coagulation Factor VIII
CFTR = Cystic Fibrosis Conductance Transmembrane Regulator
Lung Cancer
Germline Genomic Medicine
• Disease Susceptibility
– Common Complex Disease
– Rare Mendelian Disease
• Pharmacogenomics
Promise of Human Genome Project
Per-allele effect of BMI-associated
loci on body weight
2012 Genetic determinants of common obesity and their value in prediction
2011 Hum Genet. Type 2 diabetes and obesity- genomics and the clinic
2011 Hum Genet. Type 2 diabetes and obesity- genomics and the clinic
TCF7L2
“At the end of the era of common variant discovery for T2D,
polygenic scores can predict T2D in whites and blacks but do
not outperform clinical models.
Further optimization of polygenic prediction may require novel
analytic methods, including less common as well as
functional variants.”
Predicting Complex Diseases
2013 NG Predicting the influence of common variants
“For most diseases, it should be possible to identify the individuals with the highest
genetic risk. However, if the aim is to identify individuals with just twice the mean
population risk, we cannot currently do that with SNPs”
Mean population risk
Highest genetic risk
x2
DiseaseRisk
Rare Variant?
2008 HMG Genome-based prediction of common diseases- advances and prospects
2008 HMG Genome-based prediction of common diseases- advances and prospects
Diabetes ≠ Genetic Disease?
• Familial aggregation
– Genetic influences?
– Epigenetic influences
• Intrauterine environment
– Shared family environment?
• Socioeconomic status
• Dietary preferences
• Food availability
• Gut microbiome content
• Overestimated heritability
– Phantom heritability
2012. Drong AW, Lindgren CM, McCarthy MI. Clin Pharmacol Ther. The genetic and epigenetic basis of type 2 diabetes and obesity.
2012. PNAS The mystery of missing heritability- Genetic interactions create phantom heritability
Germline Genomic Medicine
• Disease Susceptibility
– Common Complex Disease
– Rare Mendelian Disease
• Pharmacogenomics
Influence of Genetics on Human Disease
For any condition the overall balance of g
enetic and environmental determinants ca
n be represented by a point somewhere w
ithin the triangle.
88
Single
Locus /
Mendelian
Multiple
Loci or multi-
chromosomal
Environmental
Cystic Fibrosis
Hemophilia A
Examples:
Alzheimer’s Disease
Type II Diabetes
Cardiovascular Disease
Diet
Carcinogens
Infections
Stress
Radiation
Lifestyle
Gene = F8
Gene= CFTR
F8 = Coagulation Factor VIII
CFTR = Cystic Fibrosis Conductance Transmembrane Regulator
Lung Cancer
Laboratory Director
강현석
Mendelian (single-gene) genetic
disorder
Known single-gene
candidates testing
Whole Genome or Whole
Exome Sequencing
Germline Genomic Medicine
• Disease Susceptibility
– Common Complex Disease
– Rare Mendelian Disease
• Pharmacogenomics
2012 European Heart Journal. Personalized medicine: hope or hype?
Herceptin
Glivec
Cases
Agranulocytosis
(Choi et. al. on going)
Whole Exome Sequencing
Case (N=26) vs Control (N=392)
Stage 1
Discovery
Controls
Anti-thyroid drug
No side effect
Stage 2
Validation
N=55
Strategy
CPIC Pharmacogenetic Tests: 최형진
No
Drug
(N= 10)
Gene
(6 genes=8 bioma
rkers)
Target SNPs
(N=12)
#5
(HJC)
Genotype Interpretation Clinical Interpretation
1 Clopidogrel CYP2C19
rs4244285 (G>A) GG
*1/*1
(EM)
Use standard dosers4986893 (G>A) GG
rs12248560 (C>T) CC
2 Warfarin
VKORC1 rs9923231 (C>T) TT
Low dose
(higher risk of bleeding)
Warfarin dose=0.5~2 mg/day
CYP2C9
rs1799853 (C>T) CC
rs1057910 (A>C) AC
3 Simvastatin SLCO1B1 rs4149056 (T>C) TT Normal
4
Azathioprine (AP),
MP, or TG
TPMT rs1142345 (A>G) AA Normal
5
Carbamazepine
or Phenytoin
HLA-B*1502
rs2844682 (C>T) CT
Normal
rs3909184 (C>G) CC
6 Abacavir HLA-B*5701 rs2395029 (T>G) TT Normal
7 Allopurinol HLA-B*5801 rs9263726 (G>A) GG Normal
Clopidogrel1)
: UM/EM=standard dose, IM/PM= consider alternative antiplatelet agent (eg. prasugrel/ticagrelor)
Warfarin2)
: high dose=5~7 mg/day, medium dose=3~4 mg/day, low dose=0.5~2 mg/day
$99
N>800,000
Future of Genomic Medicine?
Test when neededWithout information Know your type
Blood
type
Geno
type
Here is my
sequence
Contents
1. What is Healthcare Big Data?
2. Healthcare Big Data
① Genetic Data
② Electrical Health Records
③ National Healthcare Data
④ Medical Images
⑤ Sensor/Mobile Data
3. Clinical and Research Applications
Electronic Health Records
2012 NRG Mining electronic health records- towards better research applications and clinical care
Common EHR Data
Joshua C. Denny Chapter 13: Mining Electronic Health Records in the Genomics Era. PLoS Comput Biol. 2012 December; 8(12):
International Classification of Diseases (ICD)
Current Procedural Terminology (CPT)
Medication Data
Lab Data
Big Data Analysis
0
0.2
0.4
0.6
0.8
1
1.2
1.4
1.6
1.8
1/Creatinine
한 환자의 10년간 신장기능의 변화
전체 환자의 당 조절 정도 분포
충북대 정보통계학과
허태영 교수
PCA Analysis혈당
신장기능
Machine Learning
2014 Big data bioinformatics
Clinical Notes
밤동안 저혈당수면 Lt.foot rolling Keep떨림,
식은땀, 현기증, 공복감, 두통, 피로감등의 저혈
당 에 저혈당 이 있을 즉알려주도록 밤사이 특
이호소 수면유지상처와 통증 상처부위 출혈
oozing, severe pain 알리도록 고혈당 처방된 당
뇨식이의 중요성과 간식을 자제하도록 .고혈
당 ,,관리 방법 .당뇨약 이해 잘 하고 수술부위
oozing Rt.foot rolling keep드레싱 상태를 고혈
당 고혈당 의식변화 BST 387 checked.고혈당
으로 인한 구강 내 감염 위해 식후 양치, gargle
등 구강 위생 격려.당뇨환자의 발관리 방법에 .
목표 혈당, 목표 당화혈색소에 .식사를 거르거
나 지연하지 않도록 .식사요법, 운동요법, 약물
요법을 정확히 지키는 것이 중요을 .처방된 당
뇨식이의 중요성과 간식을 자제하도록 .고혈
당 ,,관리 방법 .혈당 정상 범위임rt foot rolling
중으로 pain호소 밤사이 수면양호걱정신경 예
민감정변화 중임감정을 표현하도록 지지하고
경청기분상태 condition 조금 나은 듯 하다고 혈
당 조절과 관련하여 신경쓰는 모습 보이며 혈당
self로 측정하는 모습 보임혈당 조절에 안내하
고 불편감 지속알리도록고혈당 고혈당 의식변
화 고혈당 허약감 지남력 혈당조절 안됨고혈당
으로 인한 구강 내 감염 위해 식후 양치, gargle
등 구강 위생 격려.당뇨환자의 정기점검 내용과
빈도에 .BST 140 으로 저혈당 호소 밤동안 저
혈당수면 Lt.foot rolling Keep떨림, 식은땀, 현
기증, 공복감, 두통, 피로감등의 저혈당 에 저
혈당 이 있을 즉알려주도록 pain 및 불편감 호
소 WA 잘고혈당 고혈당 의식변화 고혈당 허
약감 지남력 혈당조절 안됨식사요법, 운동요법,
약물요법을 정확히 지키는 것이 중요을 .저혈당
/고혈당 과 대처법에 .혈당정상화, 표준체중의
유지, 정상 혈중지질의 유지에 .고혈당 ,,관리
방법 .혈당측정법,인슐린 자가 투여법, 경구투
약,수분 섭취량,대체 탄수화물,의료진의 도움이
필요한 사항에 교혈당 정상 범위임수술부위
oozing Rt.foot rolling keep수술 부위 (출혈, 통
증, 부종)수술부위 출혈 상처부위 oozing
Wound 당겨지지 않도록 적절한 체위 취하기
설명감염 발생 위험 요인 수술부위 출혈 밤동안
간호기록지 Word Cloud
Natural Language Processing (NLP)
Contents
1. What is Healthcare Big Data?
2. Healthcare Big Data
① Genetic Data
② Electrical Health Records
③ National Healthcare Data
④ Medical Images
⑤ Sensor/Mobile Data
3. Clinical and Research Applications
Number of patients with medical treatments related to
osteoporosis in each calendar year
2005 2006 2007 2008
0
500
1000
1500
Male
Female
Calendar year
Number(thousand)
2011 JBMM Burden of osteoporosis in adults in Korea- a national health insurance database study
Korean Society for
Bone and Mineral
Research
Anti-hypertensive
prescriptions
(2008-2011)
N = 8,315,709
New users
N = 2,357,908
Age ≥ 50 yrs
Monotherapy
Compliant user (MPR≥80%)
No previous fracture
N = 528,522
Prevalent users
N = 5,957,801
Excluded
Age <50
Combination therapy
Inadequate compliance
Previous fracture
N = 1,829,386
Final study population
심평원 빅데이터 연구
고혈압약과 골절
Choi et al., 2015 International Journal of Cardiology
Compare Fracture Risk
Comparator?Hypertension
CCB
High
Blood Pressure
Fracture
Risk
BB
Non-
user
Healthy
Non-
user
Cohort study (Health Insurance Review & Assessment Service)
New-user design (drug-related toxicity)
Non-user comparator (hypertension without medication)
2007 20112008
Choi et al., 2015 International Journal of Cardiology
Distribution of ARB MPR
(Histogram)
ARB Non-user
20
FrequencyDensity
ARB user
80 120
Medication Possession Ratio (MPR)
Total prescription days
Observation days
350 days (Prescription)
365 days (Observation)
MPR
96%
MPR (%)
Choi et al., 2015 International Journal of Cardiology
Data Variety
Limitations
Compared with CCBs
If diabetes,
ARB?
BB?
• Not a randomized control trial
• Confounding by indication
– Treatment decisions
• Age, gender, diabetes, co-morbidity
• Bias from non-users definition
– HTN without medication
– Poor compliance
• No BMD data
Choi et al., 2015 International Journal of Cardiology
Overview of secondary data in
public health by data source
보험청구자료 건강검진
NHIS (National Health Insurance Corporation): 국민건강보험공단 (보험공단)
HIRA (Health Insurance Review and Assessment Service) :건강보험심사평가원 (심평원)
통계청 암센터
J Korean Med Assoc 2014 May; 근거중심 보건의료의 시행을 위한 빅데이터 활용
Contents
1. What is Healthcare Big Data?
2. Healthcare Big Data
① Genetic Data
② Electrical Health Records
③ National Healthcare Data
④ Medical Images
⑤ Sensor/Mobile Data
3. Clinical and Research Applications
Heart
SIMENS: CT Cardio-Vascular Engine
CT Angiography
General
Electric
2015.1.8.
2013 Sciencce Functional interactions as big data in the human brain
Obesity fMRI Research
Preliminary Pilot Results
p<0.005 uncorrected
Activation of visual, motor and prefrontal brain area in response to visual food cue
3
+
Food presentation
max 4sec
Feedback
1sec
Fixation
1~10sec
Choi et al., on going
Resting state fMRI analysis
Complex network approach
Parcellation
116 brain regions
by AAL map
Adjacency matrix Network properties
node degree, clustering coefficient
Choi et al., on going
Bone Quality and
TBS (Trabecular Bone Score)
Clinical Implication of TBS
2014 Endocrine. Utility of the trabecular bone score (TBS) in secondary osteoporosis
Genome Big Data + Brain Big Data
Connectome-wide GWAS
2014 Nature Neuroscience. Whole-genome analyses of whole-brain data- working within an expanded search space
2015 Nature. Common genetic variants influence human subcortical brain structures
Published
online
21 January
2015
2015 Nature. Common genetic variants influence human subcortical brain structures
2015 Nature. Common genetic variants influence human subcortical brain structures
2014
Radiomics
2014 Nature Communications. Decoding tumour phenotype by noninvasive imaging using a quantitative radiomics approach
Computer Whole Slide Image Analysis
Image normalization Image segmentation Feature extraction
2015 Laboratory Investigation. Novel genotype-phenotype associations in human cancers enabled by advanced molecular platforms and computational analysis
of whole slide images
Integration of quantitative histology with
multifaceted clinical and genomic data
2015 Laboratory Investigation. Novel genotype-phenotype associations in human cancers enabled by advanced molecular platforms and computational analysis
of whole slide images
Quantitative nuclear morphometry
2015 Laboratory Investigation. Novel genotype-phenotype associations in human cancers enabled by advanced molecular platforms and computational analysis
of whole slide images
Contents
1. What is Healthcare Big Data?
2. Healthcare Big Data
① Genetic Data
② Electrical Health Records
③ National Healthcare Data
④ Medical Images
⑤ Sensor/Mobile Data
3. Clinical and Research Applications
NFC 혈당측정기
데이터베이스 기반 혈당관리
혈당 변화 실시간 모니터링
저녁 식사전 고혈당
구글 헬스 앱 분야 매출 1위 ‘눔(noom)’
Date Time name foodType calories unit amount
2014-08-09 0 미역국 0 23 1국그릇 (300ml) 105 g
2014-08-09 0 잡곡밥 0 80 1/4공기 (52.5g) 52 g
2014-08-09 0 열무김치 0 3 1/4소접시 (8.75g) 9 g
2014-08-09 0 파프리카 0 6 1/2개 (33.25g) 35 g
2014-08-09 0 토란대무침 0 28 1/2소접시(46.5g) 46 g
2014-08-09 1 복숭아 0 91 1개 (269g) 268 g
2014-08-09 2 마른오징어 2 88 1/4마리 (25g) 25 g
2014-08-09 2 파프리카 0 6 1/2개 (33.25g) 35 g
2014-08-09 2 저지방우유 1 72 1컵 (200ml) 180 g
2014-08-09 2 복숭아 0 183 2개 (538g) 538 g
2014-08-09 3 복숭아 0 91 1개 (269g) 268 g
2014-08-09 3 파프리카 0 6 1/2개 (33.25g) 35 g
2014-08-09 4 파프리카 0 6 1/2개 (33.25g) 35 g
2014-08-09 4 식빵 1 92 1장 (33g) 33 g
2014-08-09 4 삶은옥수수 1 197 1개 반 (150g) 150 g
2014-08-09 4 복숭아 0 91 1개 (269g) 268 g
2014-08-09 4 저지방우유 1 72 1컵 (200ml) 180 g
2014-08-10 0 복숭아 0 91 1개 (269g) 268 g
2014-08-10 0 저지방우유 1 36 1/2컵 (100ml) 90 g
2014-08-10 0 두부 0 20 1/4인분 (25g) 25 g
2014-08-10 0 견과류 2 190 1/4 컵 (50g) 31 g
2014-08-10 0 파프리카 0 11 1개 (66.5g) 65 g
식사량 실시간 모니터링
0
100
200
300
400
500
600
아침
아침간식
점심
점심간식
저녁
저녁간식
아침
아침간식
점심
점심간식
저녁
저녁간식
아침
아침간식
점심
점심간식
저녁
저녁간식
아침
아침간식
점심
점심간식
저녁
저녁간식
아침
아침간식
점심
점심간식
저녁
저녁간식
아침
아침간식
점심
점심간식
저녁
저녁간식
아침
아침간식
점심
점심간식
저녁
저녁간식
2014-08-09 2014-08-10 2014-08-11 2014-08-12 2014-08-13 2014-08-14 2014-08-15
점심 과식
저녁 금식
운동량 실시간 모니터링
0
5000
10000
15000
20000
25000
걸음 수
운동X
운동
식사
스마트폰 활용 당뇨병 통합관리
의사
상담 교육
조회/
분석
교육간호사
매주/필요시
진료 처방
2-3달 간격
평가 회의
매주/필요시
식사/
운동
스마트폰
데이터베이스 서버
자가관리
전송
분석
혈당
측정
혈당측정기
피부 사진 원격 진단/처방
심전도 원격 진단/처방
Contents
1. What is Healthcare Big Data?
2. Healthcare Big Data
① Genetic Data
② Electrical Health Records
③ National Healthcare Data
④ Medical Images
⑤ Sensor/Mobile Data
3. Clinical and Research Applications
Clinical and Research Applications
1. Clinical Decision Support
2. Public Health Surveillance
3. Personal Health Record
4. Healthcare Data Integration
Clinical and Research Applications
1. Clinical Decision Support
2. Public Health Surveillance
3. Personal Health Record
4. Healthcare Data Integration
Risk Prediction
Clinical and Research Applications
1. Clinical Decision Support
2. Public Health Surveillance
3. Personal Health Record
4. Healthcare Data Integration
Social Network and
Obesity Prevalence
2013 PLOS One. Assessing the Online Social Environment for Surveillance of Obesity Prevalence
2013 PLOS CB Reassessing Google Flu Trends Data for Detection of Seasonal and Pandemic Influenza
Google Flu Trends
•환경부 빅데이터 시스템 도입
•비염, 천식, 아토피 등 환경질환 개선
•국민건강보험공단의 진료 기록
•기후 자료
•국민건강보험공단 자료(국민건강정보 DB, 코호트 DB) 연계
•이상기후·대기오염에 따른 건강영향 분석
•지역별 환경 위험요인 자료 DB구축
•위치정보를 이용한 환경성·심혈관계질환 위해지도(risk map),
질병지도(disease map) 작성
•국민건강보험공단 2002~2013 건강보험 가입자 전체 DB
•100만명 장기추적자료
•개인별 질환 악화·변화- 폭염/미세먼지 등 환경유해인자와 상
관성 검증
Big data platform model by Korea Institute of
Drug Safety and Risk Management
Clinical and Research Applications
1. Clinical Decision Support
2. Public Health Surveillance
3. Personal Health Record
4. Healthcare Data Integration
Apple Health App
Clinical and Research Applications
1. Clinical Decision Support
2. Public Health Surveillance
3. Personal Health Record
4. Healthcare Data Integration
2014 JAMA Finding the Missing Link for Big Biomedical Data
Pros and Cons of Different Data Sources
2014 ASBMR meet the professor handbook
Data Sharing
http://hineca.tistory.com/entry/Vol11-3%EC%9B%94%ED%98%B8-%EB%B3%B4%EA%B1%B4%EC%9D%98%EB%A3%8C%EC%9D%B4%EC%8A%88-
%EA%B7%BC%EC%8B%9C%EA%B5%90%EC%A0%95%EC%88%A0
2014.3.
insurance claims, blood tests, medical histories
US$10-million pilot study N=30M
Clinical and Research Applications
1. Clinical Decision Support
2. Public Health Surveillance
3. Personal Health Record
4. Healthcare Data Integration
5. How to Prepare for Big Data Driven
Healthcare
R vs. Stata vs. SAS
빅데이터 연구 적용
전통적인 관점 연구
Large scale
(unstructured)
data
Summary
(Modify)
Classical hypothesis driven study
새로운 관점 연구
Hypothesis Generating Study

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헬스케어 빅데이터로 무엇을 할 수 있는가?

  • 1. 헬스케어 빅데이터로 무엇을 할 수 있는가? 연구와 임상 적용 경험을 중심으로 (유전체, 전자의무기록, 건강보험청구자료, 영상, 센서/모바일)
  • 2. Contents 1. What is Healthcare Big Data? 2. Healthcare Big Data ① Genetic Data ② Electrical Health Records ③ National Healthcare Data ④ Medical Images ⑤ Sensor/Mobile Data 3. Clinical and Research Applications
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  • 8. What is Big Data?
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  • 10. Big Data Dimensions New Analysis Tool (R, Python, Matlab) New Approach
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  • 14. Tipping Point for Big Data Healthcare 2013 McKinsey The big data revolution in healthcare
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  • 18. Hypothesis Driven Science Data Driven Science Hypothesis Collect Data Data Generate Hypothesis Analyze Analyze
  • 19. Candidate Gene Approach Genome-wide Approach Choose a Gene from Prior Knowledge Analyze the Gene Analyze ALL Genes Discover Novel Findings
  • 20. GWAS (Genome wide association study) SNP chip Whole Genome SNP Profiling (500K~1M SNPs) Common Variant
  • 21. Estrada et al., Nature Genetics, 2012 + novel targets for bone biology Recent largest GWAS GEFOS consortium
  • 22. 2010 An Environment-Wide Association Study (EWAS) on Type 2 Diabetes Mellitus Environment-Wide Association Study (EWAS)  다양한 환경인자들 
  • 23. GWAS  PheWAS Phenotype-wide Association Study
  • 24. 1000 개의 질병들 Bioinformatics. 2010 PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Phenotype-wide Association Study
  • 27. Anatome-Phenome-wide Association Study 2015.2.19. Nature. Genetic and epigenetic fine mapping of causal autoimmune disease variants Phenome Anatome
  • 28. 헬스케어 3.0 시대의 변화 키워드 2011.11.23 헬스케어 3.0: '건강수명' 시대의 도래 주: 선의 굵기는 영향의 강도를 의미
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  • 34. Contents 1. What is Healthcare Big Data? 2. Healthcare Big Data ① Genetic Data ② Electrical Health Records ③ National Healthcare Data ④ Medical Images ⑤ Sensor/Mobile Data 3. Clinical and Research Applications
  • 35. DNA mRNA Protein Metabolite Epigenetics Genetics Information and OMICs Genomics Epigenomics Transcriptomics Proteomics Metabolomics
  • 36. DNA mRNA WBC Liver Cancer Germline mutation Somatic mutation Epigenomics Proteomics Metabolomics Epigenomics Proteomics Metabolomics Epigenomics Proteomics Metabolomics Metabolomics Germline Genomics Cancer Genomics Transcriptomics Transcriptomics Transcriptomics Proteomics
  • 37. Diabetes and Epigenetics Study Diabetes Diabetic Complications Epigenetic change 1. Cause of Diabetes Food Exercise Genetic Predisposition Environmental Predisposition Epigenetic change 2. Result of Diabetes
  • 38. Next Generation Sequencing (NGS) Genetic Variation Analyses SNP genotyping Gene A Gene B Gene C Sequencing Whole genome sequencing Whole exome sequencing (1.5%) SNP Chip
  • 39. Combined P = 4.1×10-7 Stage 1 P = 1.2×10-5 Bone Mineral Density GWAS Korea Ansung Chinese Stage 1 Discovery (N=2729) Stage 2 Replication (N=4784) SNPs 328,918 European1 European2 GWAS Choi, PhD doctoral thesis (2013) 1 2 3 0.70 0.75 0.80 0.85 BMD(g/cm2 ) AA (n=1158) AG (n=382) GG (n=40) Femur neck BMD
  • 40. High glucose Low glucose WBC Plasma 0 50 100 150 200 250 300 Fasting 1hr 2hr W B C W B C W B C Metabolite Cytokine Gene Expression Genotype glucose PO Glucose Epigenetic change Choi, et al. Physiological Genomics (2012) Human Blood, Cell Biospecimen Study Microarray 16 cytokines: ELISA kit Choi, et al. DRCP (2013) N=60
  • 41. Transcriptome Response to Hyperglycemia Interleukin 8 0 1 2 0.4 0.5 0.6 0.7 0.8 0.9 1.0 1.1 IL8 IL8 Hour Foldchange Chemokine (C-C motif) ligand 3 0 1 2 0.5 0.6 0.7 0.8 0.9 1.0 1.1 CCL3L1 CCL3L1 CCL3L3 CCL3 Hour Foldchange PRF1 GZM PRF1 PRF1 GZM KLR KIR CX3CR1 Interleukin 2 receptor, beta CCL3 PTGS2 (COX-2) GNLY NKG7 TGFBR3 FOS OSM Natural killer cell receptors and related genes Perforin complex Chemokine/Interleukin family Other inflammation mediators Target cells (e.g. pancreatic beta-cell, endothelium, adipocyte etc.) White blood cells Interleukin 8 Microarray (N=60x3) Choi, et al. Physiological Genomics (2012)
  • 42. Postprandial Change of Cytokine Concentrations during OGTT b a a Leptin b c Time P < 0.05 Interaction P < 0.05 a a TRX Time P < 0.05 Interaction P < 0.05 c a a IL8 Time P < 0.05 c Adiponectin c Normal Prediabetes Diabetes Choi, et al. DRCP (2013) TRX (thioredoxin)
  • 43. Metabolomics Profiling • Quantification of 186 metabolites – Acylcarnitines – Amino Acids – Biogenic Amines – Hexoses (sum of Hexoses) – Phospho and Sphingolipids • Phosphatidylcholines • LysoPhosphatidylcholines • Sphingomyelin Choi et al, on going
  • 44. Tissue Specific Expression Comprehensive Catalogues of Genomic Data Variation in the human genome Mendelian (monogenic) diseases (N=22,432) Whole genome sequencing (N=1,000) Four ethnic groups (CEU, YRI, JPT, CHB, N=270) GWAS catalog Complex (multigenic) traits (1926 publications and 13410 SNPs) Disease-related variations Functional elements 2014-06-29
  • 45. Adult/Fetal Tissues and Blood Cells mass spectrometry- 17,294 genes (N=36) 2014 Nature A draft map of the human proteome
  • 47. 2015 Science Tissue-based map of the human proteome Tissue-based map of the human proteome
  • 48. All Major Tissues/Organs All Proteins + All RNAs 2015 Science Tissue-based map of the human proteome 1. Immunohistochemistry (IHC) 24,028 antibodies (16,975 proteins)  >13 million IHC images 2. RNA-sequencing (N=44)
  • 55. 111 Reference Human Epigenomes 2015.2.19. Nature. Integrative analysis of 111 reference human epigenomes
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  • 57. Data Dimensions 2015.2.19. Nature. Integrative analysis of 111 reference human epigenomes
  • 58. 2015.2.19. Nature. Genetic and epigenetic fine mapping of causal autoimmune disease variants
  • 59. Building the Interactome 2015 Science Uncovering disease-disease relationships through the incomplete interactome
  • 60. Network-based Model of Disease-disease Relationship 2015 Science Uncovering disease-disease relationships through the incomplete interactome
  • 61. Genome-wide Profiling Human Genome(DNA) Study Transcriptomics Proteonomics Metabolomics GWAS, Candidate gene study Familial study Linkage study Genomic Study Genomic Medicine Novel Variant(SNP) DiscoveryNovel Target Discovery GENE for everyone VARIANT based individualization Non-responder of treatment Severe side effect Anti-oxidant Monoclonal antibody for osteoporosis Genetic counseling for rare diseases Sensitive urine test, DM subtype Mendelian disease risk High risk of future osteoporosis High risk of DM complications Diagnosis Treatment Prevention Common Disease Risk Rare Disease Risk Therapeutic Option Novel Disease Target Personalized Medicine
  • 63. Disease genetic susceptibility Cancer driver somatic mutation Pharmacogenomics Targeted Cancer Treatment (EGFR) Causal Variant Targeted Drug (MODY-SU) Drug Efficacy/Side Effect Related Genotype (CYP, HLA) Genetic Diagnosis (Mendelian, Cystic fibrosis) Molecular Classification - Prognosis (Leukemia) Hereditary Cancer (BRCA) Microbiome (Bacteria, Virus) Personalized Medicine Risk prediction (Complex disease, Diabetes) Germline Variants
  • 64. Cancer Targeted Therapy Targeted TherapyGenetic TestCancer
  • 65. 2013.04.04 “유전체를 기반으로 한 맞춤형 항암치료를 5년 내 시작하겠다” “5년 안에 모든 암환자 맞춤치료 실현하겠다” 2013.06.24
  • 66. Germline Genomic Medicine • Disease Susceptibility – Common Complex Disease – Rare Mendelian Disease • Pharmacogenomics
  • 68. 며칠 전 유전자 검사를 받은 40대 남성입니다. 혈액세포의 DNA 상태를 분석해 앞으로 암에 걸릴 위험이 있는지 여부를 판단할 수 있다 고 합니다. 2013.4.25. KBS 9시 뉴스
  • 69. 2013.4.25. KBS 9시 뉴스 60년전 DNA의 구조가 밝혀진 이래 2003년 인간 유전자 지도가 완성됐고, 현재는 어떤 유 전자가 어떤 질병을 일으키는지 분석도 80% 정도 끝난 상태입니다. 예를들어 13번 염색체의 BRCA2 유전자에 이상이 생기면 유방암에 걸릴 확률이 높습니 다. 또 17번 염색체 유전자는 난소암, 7번 염색체 유전자는 비만을 일으킵니다.
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  • 72. (출처: 금창원 대표님 블로그) $99 TV CF
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  • 74. FDA Halt 23andMe 2013.11.22.  2015.2.20. FDA Bloom Syndrome mutation 검사 23andMe 승인
  • 75. Influence of Genetics on Human Disease For any condition the overall balance of g enetic and environmental determinants ca n be represented by a point somewhere w ithin the triangle. 75 Single Locus / Mendelian Multiple Loci or multi- chromosomal Environmental Cystic Fibrosis Hemophilia A Examples: Alzheimer’s Disease Type II Diabetes Cardiovascular Disease Diet Carcinogens Infections Stress Radiation Lifestyle Gene = F8 Gene= CFTR F8 = Coagulation Factor VIII CFTR = Cystic Fibrosis Conductance Transmembrane Regulator Lung Cancer
  • 76. Germline Genomic Medicine • Disease Susceptibility – Common Complex Disease – Rare Mendelian Disease • Pharmacogenomics
  • 77. Promise of Human Genome Project
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  • 79. Per-allele effect of BMI-associated loci on body weight 2012 Genetic determinants of common obesity and their value in prediction
  • 80. 2011 Hum Genet. Type 2 diabetes and obesity- genomics and the clinic
  • 81. 2011 Hum Genet. Type 2 diabetes and obesity- genomics and the clinic TCF7L2
  • 82. “At the end of the era of common variant discovery for T2D, polygenic scores can predict T2D in whites and blacks but do not outperform clinical models. Further optimization of polygenic prediction may require novel analytic methods, including less common as well as functional variants.”
  • 83. Predicting Complex Diseases 2013 NG Predicting the influence of common variants “For most diseases, it should be possible to identify the individuals with the highest genetic risk. However, if the aim is to identify individuals with just twice the mean population risk, we cannot currently do that with SNPs” Mean population risk Highest genetic risk x2 DiseaseRisk Rare Variant?
  • 84. 2008 HMG Genome-based prediction of common diseases- advances and prospects
  • 85. 2008 HMG Genome-based prediction of common diseases- advances and prospects
  • 86. Diabetes ≠ Genetic Disease? • Familial aggregation – Genetic influences? – Epigenetic influences • Intrauterine environment – Shared family environment? • Socioeconomic status • Dietary preferences • Food availability • Gut microbiome content • Overestimated heritability – Phantom heritability 2012. Drong AW, Lindgren CM, McCarthy MI. Clin Pharmacol Ther. The genetic and epigenetic basis of type 2 diabetes and obesity. 2012. PNAS The mystery of missing heritability- Genetic interactions create phantom heritability
  • 87. Germline Genomic Medicine • Disease Susceptibility – Common Complex Disease – Rare Mendelian Disease • Pharmacogenomics
  • 88. Influence of Genetics on Human Disease For any condition the overall balance of g enetic and environmental determinants ca n be represented by a point somewhere w ithin the triangle. 88 Single Locus / Mendelian Multiple Loci or multi- chromosomal Environmental Cystic Fibrosis Hemophilia A Examples: Alzheimer’s Disease Type II Diabetes Cardiovascular Disease Diet Carcinogens Infections Stress Radiation Lifestyle Gene = F8 Gene= CFTR F8 = Coagulation Factor VIII CFTR = Cystic Fibrosis Conductance Transmembrane Regulator Lung Cancer
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  • 91. Mendelian (single-gene) genetic disorder Known single-gene candidates testing Whole Genome or Whole Exome Sequencing
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  • 94. Germline Genomic Medicine • Disease Susceptibility – Common Complex Disease – Rare Mendelian Disease • Pharmacogenomics
  • 95. 2012 European Heart Journal. Personalized medicine: hope or hype? Herceptin Glivec
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  • 97. Cases Agranulocytosis (Choi et. al. on going) Whole Exome Sequencing Case (N=26) vs Control (N=392) Stage 1 Discovery Controls Anti-thyroid drug No side effect Stage 2 Validation N=55 Strategy
  • 98. CPIC Pharmacogenetic Tests: 최형진 No Drug (N= 10) Gene (6 genes=8 bioma rkers) Target SNPs (N=12) #5 (HJC) Genotype Interpretation Clinical Interpretation 1 Clopidogrel CYP2C19 rs4244285 (G>A) GG *1/*1 (EM) Use standard dosers4986893 (G>A) GG rs12248560 (C>T) CC 2 Warfarin VKORC1 rs9923231 (C>T) TT Low dose (higher risk of bleeding) Warfarin dose=0.5~2 mg/day CYP2C9 rs1799853 (C>T) CC rs1057910 (A>C) AC 3 Simvastatin SLCO1B1 rs4149056 (T>C) TT Normal 4 Azathioprine (AP), MP, or TG TPMT rs1142345 (A>G) AA Normal 5 Carbamazepine or Phenytoin HLA-B*1502 rs2844682 (C>T) CT Normal rs3909184 (C>G) CC 6 Abacavir HLA-B*5701 rs2395029 (T>G) TT Normal 7 Allopurinol HLA-B*5801 rs9263726 (G>A) GG Normal Clopidogrel1) : UM/EM=standard dose, IM/PM= consider alternative antiplatelet agent (eg. prasugrel/ticagrelor) Warfarin2) : high dose=5~7 mg/day, medium dose=3~4 mg/day, low dose=0.5~2 mg/day $99 N>800,000
  • 99. Future of Genomic Medicine? Test when neededWithout information Know your type Blood type Geno type Here is my sequence
  • 100. Contents 1. What is Healthcare Big Data? 2. Healthcare Big Data ① Genetic Data ② Electrical Health Records ③ National Healthcare Data ④ Medical Images ⑤ Sensor/Mobile Data 3. Clinical and Research Applications
  • 101. Electronic Health Records 2012 NRG Mining electronic health records- towards better research applications and clinical care
  • 102. Common EHR Data Joshua C. Denny Chapter 13: Mining Electronic Health Records in the Genomics Era. PLoS Comput Biol. 2012 December; 8(12): International Classification of Diseases (ICD) Current Procedural Terminology (CPT)
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  • 107. Big Data Analysis 0 0.2 0.4 0.6 0.8 1 1.2 1.4 1.6 1.8 1/Creatinine 한 환자의 10년간 신장기능의 변화 전체 환자의 당 조절 정도 분포 충북대 정보통계학과 허태영 교수
  • 109. Machine Learning 2014 Big data bioinformatics
  • 111. 밤동안 저혈당수면 Lt.foot rolling Keep떨림, 식은땀, 현기증, 공복감, 두통, 피로감등의 저혈 당 에 저혈당 이 있을 즉알려주도록 밤사이 특 이호소 수면유지상처와 통증 상처부위 출혈 oozing, severe pain 알리도록 고혈당 처방된 당 뇨식이의 중요성과 간식을 자제하도록 .고혈 당 ,,관리 방법 .당뇨약 이해 잘 하고 수술부위 oozing Rt.foot rolling keep드레싱 상태를 고혈 당 고혈당 의식변화 BST 387 checked.고혈당 으로 인한 구강 내 감염 위해 식후 양치, gargle 등 구강 위생 격려.당뇨환자의 발관리 방법에 . 목표 혈당, 목표 당화혈색소에 .식사를 거르거 나 지연하지 않도록 .식사요법, 운동요법, 약물 요법을 정확히 지키는 것이 중요을 .처방된 당 뇨식이의 중요성과 간식을 자제하도록 .고혈 당 ,,관리 방법 .혈당 정상 범위임rt foot rolling 중으로 pain호소 밤사이 수면양호걱정신경 예 민감정변화 중임감정을 표현하도록 지지하고 경청기분상태 condition 조금 나은 듯 하다고 혈 당 조절과 관련하여 신경쓰는 모습 보이며 혈당 self로 측정하는 모습 보임혈당 조절에 안내하 고 불편감 지속알리도록고혈당 고혈당 의식변 화 고혈당 허약감 지남력 혈당조절 안됨고혈당 으로 인한 구강 내 감염 위해 식후 양치, gargle 등 구강 위생 격려.당뇨환자의 정기점검 내용과 빈도에 .BST 140 으로 저혈당 호소 밤동안 저 혈당수면 Lt.foot rolling Keep떨림, 식은땀, 현 기증, 공복감, 두통, 피로감등의 저혈당 에 저 혈당 이 있을 즉알려주도록 pain 및 불편감 호 소 WA 잘고혈당 고혈당 의식변화 고혈당 허 약감 지남력 혈당조절 안됨식사요법, 운동요법, 약물요법을 정확히 지키는 것이 중요을 .저혈당 /고혈당 과 대처법에 .혈당정상화, 표준체중의 유지, 정상 혈중지질의 유지에 .고혈당 ,,관리 방법 .혈당측정법,인슐린 자가 투여법, 경구투 약,수분 섭취량,대체 탄수화물,의료진의 도움이 필요한 사항에 교혈당 정상 범위임수술부위 oozing Rt.foot rolling keep수술 부위 (출혈, 통 증, 부종)수술부위 출혈 상처부위 oozing Wound 당겨지지 않도록 적절한 체위 취하기 설명감염 발생 위험 요인 수술부위 출혈 밤동안 간호기록지 Word Cloud Natural Language Processing (NLP)
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  • 115. Contents 1. What is Healthcare Big Data? 2. Healthcare Big Data ① Genetic Data ② Electrical Health Records ③ National Healthcare Data ④ Medical Images ⑤ Sensor/Mobile Data 3. Clinical and Research Applications
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  • 119. Number of patients with medical treatments related to osteoporosis in each calendar year 2005 2006 2007 2008 0 500 1000 1500 Male Female Calendar year Number(thousand) 2011 JBMM Burden of osteoporosis in adults in Korea- a national health insurance database study
  • 120. Korean Society for Bone and Mineral Research Anti-hypertensive prescriptions (2008-2011) N = 8,315,709 New users N = 2,357,908 Age ≥ 50 yrs Monotherapy Compliant user (MPR≥80%) No previous fracture N = 528,522 Prevalent users N = 5,957,801 Excluded Age <50 Combination therapy Inadequate compliance Previous fracture N = 1,829,386 Final study population 심평원 빅데이터 연구 고혈압약과 골절 Choi et al., 2015 International Journal of Cardiology
  • 121. Compare Fracture Risk Comparator?Hypertension CCB High Blood Pressure Fracture Risk BB Non- user Healthy Non- user Cohort study (Health Insurance Review & Assessment Service) New-user design (drug-related toxicity) Non-user comparator (hypertension without medication) 2007 20112008 Choi et al., 2015 International Journal of Cardiology
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  • 123. Distribution of ARB MPR (Histogram) ARB Non-user 20 FrequencyDensity ARB user 80 120 Medication Possession Ratio (MPR) Total prescription days Observation days 350 days (Prescription) 365 days (Observation) MPR 96% MPR (%) Choi et al., 2015 International Journal of Cardiology
  • 125. Limitations Compared with CCBs If diabetes, ARB? BB? • Not a randomized control trial • Confounding by indication – Treatment decisions • Age, gender, diabetes, co-morbidity • Bias from non-users definition – HTN without medication – Poor compliance • No BMD data Choi et al., 2015 International Journal of Cardiology
  • 126. Overview of secondary data in public health by data source 보험청구자료 건강검진 NHIS (National Health Insurance Corporation): 국민건강보험공단 (보험공단) HIRA (Health Insurance Review and Assessment Service) :건강보험심사평가원 (심평원) 통계청 암센터 J Korean Med Assoc 2014 May; 근거중심 보건의료의 시행을 위한 빅데이터 활용
  • 127. Contents 1. What is Healthcare Big Data? 2. Healthcare Big Data ① Genetic Data ② Electrical Health Records ③ National Healthcare Data ④ Medical Images ⑤ Sensor/Mobile Data 3. Clinical and Research Applications
  • 131. 2013 Sciencce Functional interactions as big data in the human brain
  • 132. Obesity fMRI Research Preliminary Pilot Results p<0.005 uncorrected Activation of visual, motor and prefrontal brain area in response to visual food cue 3 + Food presentation max 4sec Feedback 1sec Fixation 1~10sec Choi et al., on going
  • 133. Resting state fMRI analysis Complex network approach Parcellation 116 brain regions by AAL map Adjacency matrix Network properties node degree, clustering coefficient Choi et al., on going
  • 134. Bone Quality and TBS (Trabecular Bone Score)
  • 135. Clinical Implication of TBS 2014 Endocrine. Utility of the trabecular bone score (TBS) in secondary osteoporosis
  • 136. Genome Big Data + Brain Big Data
  • 137. Connectome-wide GWAS 2014 Nature Neuroscience. Whole-genome analyses of whole-brain data- working within an expanded search space
  • 138. 2015 Nature. Common genetic variants influence human subcortical brain structures Published online 21 January 2015
  • 139. 2015 Nature. Common genetic variants influence human subcortical brain structures
  • 140. 2015 Nature. Common genetic variants influence human subcortical brain structures
  • 141. 2014 Radiomics 2014 Nature Communications. Decoding tumour phenotype by noninvasive imaging using a quantitative radiomics approach
  • 142. Computer Whole Slide Image Analysis Image normalization Image segmentation Feature extraction 2015 Laboratory Investigation. Novel genotype-phenotype associations in human cancers enabled by advanced molecular platforms and computational analysis of whole slide images
  • 143. Integration of quantitative histology with multifaceted clinical and genomic data 2015 Laboratory Investigation. Novel genotype-phenotype associations in human cancers enabled by advanced molecular platforms and computational analysis of whole slide images
  • 144. Quantitative nuclear morphometry 2015 Laboratory Investigation. Novel genotype-phenotype associations in human cancers enabled by advanced molecular platforms and computational analysis of whole slide images
  • 145. Contents 1. What is Healthcare Big Data? 2. Healthcare Big Data ① Genetic Data ② Electrical Health Records ③ National Healthcare Data ④ Medical Images ⑤ Sensor/Mobile Data 3. Clinical and Research Applications
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  • 151. 혈당 변화 실시간 모니터링 저녁 식사전 고혈당
  • 152. 구글 헬스 앱 분야 매출 1위 ‘눔(noom)’
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  • 155. Date Time name foodType calories unit amount 2014-08-09 0 미역국 0 23 1국그릇 (300ml) 105 g 2014-08-09 0 잡곡밥 0 80 1/4공기 (52.5g) 52 g 2014-08-09 0 열무김치 0 3 1/4소접시 (8.75g) 9 g 2014-08-09 0 파프리카 0 6 1/2개 (33.25g) 35 g 2014-08-09 0 토란대무침 0 28 1/2소접시(46.5g) 46 g 2014-08-09 1 복숭아 0 91 1개 (269g) 268 g 2014-08-09 2 마른오징어 2 88 1/4마리 (25g) 25 g 2014-08-09 2 파프리카 0 6 1/2개 (33.25g) 35 g 2014-08-09 2 저지방우유 1 72 1컵 (200ml) 180 g 2014-08-09 2 복숭아 0 183 2개 (538g) 538 g 2014-08-09 3 복숭아 0 91 1개 (269g) 268 g 2014-08-09 3 파프리카 0 6 1/2개 (33.25g) 35 g 2014-08-09 4 파프리카 0 6 1/2개 (33.25g) 35 g 2014-08-09 4 식빵 1 92 1장 (33g) 33 g 2014-08-09 4 삶은옥수수 1 197 1개 반 (150g) 150 g 2014-08-09 4 복숭아 0 91 1개 (269g) 268 g 2014-08-09 4 저지방우유 1 72 1컵 (200ml) 180 g 2014-08-10 0 복숭아 0 91 1개 (269g) 268 g 2014-08-10 0 저지방우유 1 36 1/2컵 (100ml) 90 g 2014-08-10 0 두부 0 20 1/4인분 (25g) 25 g 2014-08-10 0 견과류 2 190 1/4 컵 (50g) 31 g 2014-08-10 0 파프리카 0 11 1개 (66.5g) 65 g
  • 158.
  • 160. 스마트폰 활용 당뇨병 통합관리 의사 상담 교육 조회/ 분석 교육간호사 매주/필요시 진료 처방 2-3달 간격 평가 회의 매주/필요시 식사/ 운동 스마트폰 데이터베이스 서버 자가관리 전송 분석 혈당 측정 혈당측정기
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  • 163. 피부 사진 원격 진단/처방
  • 164.
  • 166. Contents 1. What is Healthcare Big Data? 2. Healthcare Big Data ① Genetic Data ② Electrical Health Records ③ National Healthcare Data ④ Medical Images ⑤ Sensor/Mobile Data 3. Clinical and Research Applications
  • 167. Clinical and Research Applications 1. Clinical Decision Support 2. Public Health Surveillance 3. Personal Health Record 4. Healthcare Data Integration
  • 168. Clinical and Research Applications 1. Clinical Decision Support 2. Public Health Surveillance 3. Personal Health Record 4. Healthcare Data Integration
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  • 172. Clinical and Research Applications 1. Clinical Decision Support 2. Public Health Surveillance 3. Personal Health Record 4. Healthcare Data Integration
  • 173. Social Network and Obesity Prevalence 2013 PLOS One. Assessing the Online Social Environment for Surveillance of Obesity Prevalence
  • 174. 2013 PLOS CB Reassessing Google Flu Trends Data for Detection of Seasonal and Pandemic Influenza Google Flu Trends
  • 175. •환경부 빅데이터 시스템 도입 •비염, 천식, 아토피 등 환경질환 개선 •국민건강보험공단의 진료 기록 •기후 자료 •국민건강보험공단 자료(국민건강정보 DB, 코호트 DB) 연계 •이상기후·대기오염에 따른 건강영향 분석 •지역별 환경 위험요인 자료 DB구축 •위치정보를 이용한 환경성·심혈관계질환 위해지도(risk map), 질병지도(disease map) 작성 •국민건강보험공단 2002~2013 건강보험 가입자 전체 DB •100만명 장기추적자료 •개인별 질환 악화·변화- 폭염/미세먼지 등 환경유해인자와 상 관성 검증
  • 176. Big data platform model by Korea Institute of Drug Safety and Risk Management
  • 177. Clinical and Research Applications 1. Clinical Decision Support 2. Public Health Surveillance 3. Personal Health Record 4. Healthcare Data Integration
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  • 182. Clinical and Research Applications 1. Clinical Decision Support 2. Public Health Surveillance 3. Personal Health Record 4. Healthcare Data Integration
  • 183. 2014 JAMA Finding the Missing Link for Big Biomedical Data
  • 184. Pros and Cons of Different Data Sources 2014 ASBMR meet the professor handbook
  • 187. insurance claims, blood tests, medical histories US$10-million pilot study N=30M
  • 188. Clinical and Research Applications 1. Clinical Decision Support 2. Public Health Surveillance 3. Personal Health Record 4. Healthcare Data Integration 5. How to Prepare for Big Data Driven Healthcare
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  • 190. R vs. Stata vs. SAS
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  • 192. 빅데이터 연구 적용 전통적인 관점 연구 Large scale (unstructured) data Summary (Modify) Classical hypothesis driven study 새로운 관점 연구 Hypothesis Generating Study