Data Sources and Biobanks in the Asia-Pacific Region Wei Zhou, MD, Ph.D. Department of Epidemiology, Merck Research Laboratories October 23, 2014 1
Disclosures Wei Zhou is currently an employee of Merck and Co., and owns company s stocks The views expressed in this presentation are my personal views and do not necessarily represent the views of Merck 2
Goal of this Presentation The goal of this presentation/course is to provide a general introduction of databases/biobanks in the Asia-Pacific region The presentation is not aim to provide a comprehensive list of the Asia databases or biobanks 3
Presentation Outline Why are we interested in Asia data sources and biobank? What are the available Asia data sources and biobank? How to address the challenges in collaborating and accessing Asia data sources and biobank? Question and Discussion 4
Why are we interested in Asia data sources and biobank? Asia population and Western population are different Genetic background Standard of care and heath care system setting Economy and access to health care Life style and diet Other risk factors including environmental exposure 5
Genetic Differences between Asian and Western Populations Genetic polymorphism and response to treatment IL-28 polymorphism and response to SOC among HCV patients Somatic mutations and response to treatment EGFR mutation and response to EGFR-TKI among NSCLC patients 6
IL-28B and HCV Treatment CC homozygous genotype is associated with ~ 2-fold increase in the probability of response to therapy; may respond to shorter durations of therapy ; The rs12979860 C variant is most frequently present in individuals from East Asia (allele frequency >0.9) Ge D.et al. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance Nature. 2009 Sep 17;461(7262):399-401 7
EGFR Mutation and Copy Number in NSCLC Shigematsu and Gazdar, Int J Cancer, 2006;118:257 EGFR copy numbers and survival of NSCLC patients (Dahabreh et al., Ann Onc, 2010; Advance Publication) 8
SOC Differences between Asian and Western Populations The health care system may be different between Asia and western countries Big hospitals vs. community hospitals/primary physician Economy development Access to innovative drug and vaccines Insurance and affordability 9
Other Differences between Asian and Western Populations Life style Diet Culture Environmental and occupational exposure including smoking 10
Asian Populations are Heterogeneous What are the Asian Populations East Asia: Chinese (China mainland, Taiwan, Hong Kong), Japanese, Korean India South Eastern Asia: Vietnamese, Philippines, Singapore Middle East Others Asian are also heterogenous for the following Genetic background Standard of care and heath care system setting Economy and access to health care Life style and diet Other risk factors including environmental exposure 11
Genetic heterogeneous among Asian Populations In a study on the variation of five polymorphic loci on the Y chromosome from 1,260 males in eight ethnic groups of East Asia (Kim et al., J Hum Genet, 2000;45:76) In another study of 11 Y chromosome short tandem repeat (Y-STR) loci in 700 males from ten ethnic groups in East Asia (Kwak et al., Int J Legal Med, 2005;119:195) In a study on mitochondrial DNA (mtdna) sequence variation in the hypervariable segments I and II and haplogroup-specific mutations in coding regions in 445 individuals from seven East Asian populations (Jin et al., PLOS One, 2009;4:e4210 Ref: left Fig, Kwak et al., Int J Legal Med, 2005;119:195 Right table: Jin et al., PLOS One, 2009;4:e4210 12
A recent study employed whole-genome autosomal SNPs (54,836 SNP markers), using 320 subjects covering 24 regional groups including Northern (=16) and Southern (=3) Asians, Amerindians (=1), and four HapMap populations (YRI, CEU, JPT, and CHB) The results suggested that the East Asian group revealed the highest level of differentiation compared to Northern and Southern Asians, whereas there was no difference among East Asians, including Koreans, Japanese and Chinese Jung et al., PLOS One, 2010;5:e11855 13
Jung et al, PLOS One, 2010;5:e11855 14
Hormone Status Among Asian Breast Cancer Patients in US Breast Cancer Subtypes in Asians in the California Cancer Registry 1 Luminal A n = 3,957 (%) Luminal B n = 1,209 (%) HER2+/ER- n = 683 (%) All HER2+ n = 1,892 (%) Basal = 788 (%) Japanese 714 (67) 166 (16) 73 (7) 239 (23) 108 (10) Chinese 1143 (62) 317 (17) 169 (9) 486 (26) 207 (11) Filipina 1310 (58) 431 (19) 283 (13) 714 (32) 234 (10) Korean 217 (47) 109 (24) 56 (12) 165 (36) 75 (16) Vietnamese 313 (55) 118 (21) 61 (11) 179 (31) 81 (14) South Asian 260 (58) 68 (15) 41 (9) 109 (24) 83 (18) n Recent Studies suggest that differences in breast cancer subtypes exist among ethnic subgroups of Asian women The difference may be also due to different patient characteristics including age Breast Cancer Subtypes in New York City 2 1 Telli et al http://meeting.ascopubs.org/cgi/content/abstract/26/15_suppl/6618 2 McCarville et al Cancer Res 2009;69(24 Suppl):Abstract nr 3067 15
Presentation Outline Why are we interested in Asia data sources and biobank? What are the available Asia data sources and biobank? How to address the challenges in collaborating and accessing Asia data sources and biobank? Question and Discussion 16
Asian Databases/biobanks Types of Asian databases/biobanks Consortium National/regional biobank link with EMR databases Individual Cohort Project specific collaboration Hospital based databases/biobanks Databases and biobanks can be further classified into different categories Discovery versus hypothesis driven Funding sources: government, academic/hospital, CRO, pharmaceutical/biotech companies 17
Examples of Asian Databases and Biobanks 18
AsPEN AsPEN, the Asian Pharmacoepidemiology Network (http://aspennet.asia/index.html) A multi-national research network which was formed to provide a mechanism to support the conduct of pharmacoepidemiological research To facilitate the prompt identification and validation of emerging safety issues among the Asian countries Including researchers from Australia, China mainland, Hong Kong, Japan, Korea, Singapore, Sweden, Taiwan, and USA Focus on pharmacoepidemiology research, not linked with genetic information 19
Asian Cohort Consortium ACC or Asian Cohort Consortium (https://www.asiacohort.org/) To understand the relationship between genetics, environmental exposures, and the etiology of disease through the establishment of a cohort of at least one million healthy people around the world The consortiums covers populations from China, India, Iran, Japan, Korea, Malaysia, Singapore, Taiwan Most of the cohorts have genetic materials collected There have been several publications out 20
International Cancer Genome Consortium ICGC (https://icgc.org/) Including researchers from China, India, Japan, Saudi Arabia, South Korea, and other places around the world The primary goals are to Generate comprehensive catalogues of genomic abnormalities (somatic mutations, abnormal expression of genes, epigenetic modifications) in tumors from 50 different cancer types and/or subtypes Make the data available to the entire research community as rapidly as possible 21
Asian Cancer Research Group (ACRG) Formed in 2010, ACRG is an independent, not-for-profit company established jointly by Eli Lilly, Merck and Pfizer to accelerate research, and ultimately improve, treatment for patients affected with the most commonly-diagnosed cancers in Asia. Asian Cancer Research Group (ACRG) lung stomach liver tumor tissue ACRG seeks to improve the knowledge of cancers prevalent in Asia by generating comprehensive genomic data sets and sharing them freely with the scientific community in order to accelerate drug discovery efforts 22
China Kadoorie Biobank China Kadoorie Biobank, or CKB (http://www.ckbiobank.org/site/) CKB is set up to investigate the main genetic and environmental causes of common chronic diseases in the Chinese population During 2004-8, over 510,000 adults were recruited from 10 geographically defined regions of China, with extensive data collection by questionnaire and physical measurements, and with long-term storage of blood samples for future study Every few years, periodic re-surveys are also to be conducted in about 25,000 surviving participants, with a repeat interview, measurements and blood collection (as in the baseline survey) to help assess changes of risk exposures in the study population There have been lots of publications out 23
Korea Biobank Project Korea Biobank Project, or KBP, is a network between the National Biobank of Korea and biobanks run by universityaffiliated general hospitals (regional biobanks) The first phase of KBP aims to collect human biospecimens from 500,000 participants (including 300,000 populationbased participants and 200,000 disease-based participants) with their epidemiological and clinical information until 2012 As of December-2011, the NBK has collected human biospecimens from 525,416 participants including 325,952 Korean populations and 199,464 patients (serum, plasma, DNA, and others) The second phase started in 2013, with the goal to support 1000+ projects by 2015 Lee et al., Osong Public Health Res Perspect. 2012; 3(3): 185 189. 24
The BioBank Japan Project The Biobank Japan Project (http://biobankjp.org/index.html), was started in 2003 and end in 2012 Aim to investigate the relationships between SNP in approximately 300,000 people and the efficacy and side effect of drugs Achievements - Number of acquired ICs: 201,805 persons; Total number of analyzed diseases: 287,919 (up to February 2008) 25
Presentation Outline Why are we interested in Asia data sources and biobank? What are the available Asia data sources and biobank? How to address the challenges in collaborating and accessing Asia data sources and biobank? Question and Discussion 26
Challenges of Accessing Asia Databases Awareness and understand the importance of international collaboration Funding sources Ethnic, legal, and social impact Informed consent, privacy, data protection Restriction of sample and data export Data sharing Link genetic/genomic information with medical records Personnel expertise 27
How to Address the Challenges? Law and regulations Encourage the collaboration (international and internal collaboration) Data sharing, publication, and accessing Education 28
Presentation Outline Why are we interested in Asia data sources and biobank? What are the available Asia data sources and biobank? How to address the challenges in collaborating and accessing Asia data sources and biobank? Question and Discussion 29
Question #1 Question: Are Asian populations same or different? Answer: 1) Same. We have similar genetic background and similar culture 2) Different. They are genetically similar, however, the culture, life style, and health care settings are different 3) Different. Although the culture and life styles are similar, the Asian populations have different genetic background 4) Different: Asian Populations may have different genetic background, as well as culture, life style, or health care setting differences 30
Question #2 Question: what are the major challenges in Asia databases/biobank research? Answer: 1) Funding and budget 2) Regulation and ethnic 3) Restriction of sample and data export 4) All of them 31
Other Questions 32