Human Genetic Resources Research Articles

Genetic Risk of Clozapine Induced Leukopenia and Neutropenia: A Genome-Wide Association Study

Background: Antipsychotics can improve psychotic symptoms, but treatment responses vary widely. Clozapine is considered to be the most effective antipsychotic medication for schizophrenia. However, it is also associated with several adverse effects such as metabolic syndrome and leukopenia. The mechanism of clozapine induced leukopenia (CIL) has not yet been fully elucidated. Genetic factors are likely to play an important role in the molecular basis, but most investigations have focused on individuals of European ancestry. In this manuscript, we report the first genome-wide association study (GWAS) of CIL and clozapine induced neutropenia (CIN) in a Chinese population. Methods: We performed a GWAS in up to 1,879 patients (225 CIL cases with WBC < 4,000 mm−3, including 43 CIN cases with ANC < 1500 mm−3, and 1654 controls) of Chinese descent. Data from common and rare single nucleotide polymorphisms (SNPs) were tested for association. We also performed a trans-ancestry meta-analysis with GWAS results of European individuals from the Clozapine Induced Agranulocytosis Consortium (CIAC). Findings: We identified several novel loci reaching the threshold of genome-wide significance level (P < 5 × 10−8). Three novel loci were associated with CIL while six were associated with CIN. We identified two T cell related genes in this study (TRAC and TRAT1). We also observed that one locus with evidence close to genome-wide significance (P = 5·08 × 10−8) was near the HLA-B gene in the major histocompatibility complex region in the trans-ancestry meta-analysis. Interpretation: Our results provide novel understanding of potential genetic and immune mechanisms for CIL and CIN. Funding Statement: This work was supported by the National Key RD Shanghai Youth Top-notch Talent Support Program to J.C., Shanghai Mental Health Center (2016-fx-02), Shanghai Municipal Commission of Science and Technology (17JC1402900, 17490712200, 18DZ2260200), Shanghai Municipal Health Commission (ZK2015B01, 201540114), Scientific Research and Development Fund of Shanghai Jiao Tong University (19X150010012), Shanghai Municipal Science and Technology Major Project (2018SHZDZX05), Innovative Research Team of High-Level Local Universities in Shanghai and Shanghai Clinical Research Center for Mental Health (19MC1911100). R.S. is part-funded by: i) the National Institute for Health Research (NIHR) Biomedical Research Centre at the South London and Maudsley NHS Foundation Trust and King’s College London; ii) a Medical Research Council (MRC) Mental Health Data Pathfinder Award to King’s College London; iii) an NIHR Senior Investigator Award; iv) the National Institute for Health Research (NIHR) Applied Research Collaboration South London (NIHR ARC South London) at King’s College Hospital NHS Foundation Trust. Declaration of Interests: We declare that we have no conflicts of interest. Ethics Approval Statement: In accordance with the principles in Declaration of Helsinki, the study was approved by the Ethics Committee at the Bio-X Institutes of Shanghai Jiao Tong University and the written informed consent was obtained from each participant. It is confirmed that the research complied with the Guidance of the Ministry of Science and Technology (MOST) for the Review and Approval of Human Genetic Resources.

Embracing human genetics: a primer for developmental biologists.

Understanding the etiology of congenital disorders requires interdisciplinary research and close collaborations between clinicians, geneticists and developmental biologists. The pace of gene discovery has quickened due to advances in sequencing technology, resulting in a wealth of publicly available sequence data but also a gap between gene discovery and crucial mechanistic insights provided by studies in model systems. In this Spotlight, I highlight the opportunities for developmental biologists to engage with human geneticists and genetic resources to advance the study of congenital disorders.

Assessing the Intention to Provide Human Genetic Resources: An Explanatory Model

Background: Human genetic resources are an important material component for life science research and have strategic significance for medical science and technological innovation. In this study, we employ frameworks from social psychology and the science of human behavior to study human genetic resource providers. Aims: We used structural equation techniques to explain factors affecting the intention to provide human genetic resources and the mechanisms for providing such resources. Methods: We conducted an online survey with respondents from ethnic minorities (n = 912). Our model integrates key variables informed by the theory of planned behavior (TPB), the theory of benefit and risk assessment (BRA), as well as variables that represent the policy and political system. Results: Our results show that the factors affecting the intention to provide human genetic resources, ranked from highly influential to less influential, are perceived benefits, privacy risk, attitudes toward providing human genetic resources, perceived behavioral efficacy, psychological risk, subjective norms, and physical risk. The variables informed by the TPB all have a significant positive effect on the intention to provide human genetic resources. With the exception of physical risk, the variables informed by the theory of BRA have a significant effect on the intention to provide human genetic resources. Respondents with different health conditions have significantly different levels of physical risk. Conclusions: The results of our study provide insights into how to improve people’s intention to provide human genetic resources. We also proposed ways to protect such resources globally.

ПРИНЦИПЫ И ЗАКОНОМЕРНОСТИ ПРАВОВОГО РЕГУЛИРОВАНИЯ ПОЛНОГЕНОМНОГО СЕКВЕНИРОВАНИЯ В КИТАЙСКОЙ НАРОДНОЙ РЕСПУБЛИКЕ (КНР)

The global genome sequencing market is developing at a very fast pace, and this is happening most rapidly in China. Amid the economic boom, demand for advanced medical services is extremely high. In view of this, the principles and laws of normative regulation of this activity carried out using both legislative and administrative legal instruments deserve attention. For the domestic legislator, the Chinese experience in regulating the use of genetic resources in conducting international joint research, collecting, storing, using and providing external human genetic resources in China, and ethical principles in conducting biogenetic studies will be extremely useful.

151P - Gene expression profiling for a better understanding of gastric cancer: From the perspective of metabolic rearrangement

BackgroundMetabolic rearrangement has been shown to be an important characteristic for stomach adenocarcinomas. Here we aimed to improve our understanding of the tumorigenesis of gastric cancer by means of gene and protein expression profile analysis with a focus on metabolic genes and pathways. MethodsArray-based gene expression profiling of fresh frozen cancer tissues and adjacent normal tissues were obtained from 8 patients with gastric cancer at early stage by using Affymetrix oligonucleotide microarray. Assays targeted 179 unique genes related to cancer metabolism. The raw expression data were normalized using nSolver Analysis Software 3.0 and a dataset of gene expression ratios for GC vs. controls was generated. The p values were calculated using a paired t-test, and the threshold for up- and down-regulated genes was set at p value < 0.05. The protein expression of the dysregualted genes were detected by immunohistochemistry (IHC) in the formalin fixed paraffin embedded tissue blocks. The signal was quantified by the Allred score system which represented the estimated intensity and proportion of positive-staining cells. ResultsOur microarray results showed increased expression of 20 metabolic genes and decreased expression of 6 metabolic genes in all cases of gastric cancer at early stage. Besides of the undetected NOX4, the protein levels of all the others dysregualted genes, detected by IHC, showed consistently results. Half of all dysregulated genes (AKT2, EGLN3, G6PD, GLS, HIF1A, HK2, HRAS, MAP2K1, NTRK3, PGK1, PLCG1, RET and RPS6KB1) are implicated in Carbon Metabolism, a pivotal metabolic approach involving in nucleic acid biosynthesis. Five genes (ARNT, EGLN1, EGLN3, HIF1A and NOX4) are molecules implicated in hypoxia signaling. Besides, the upregulated HIF1A is a cancer metabolism driver, which means that HIF1A may induce the oncogenesis of gastric cancer. ConclusionsThe gastric mucosa in gastric cancer at early stage is characterized by dysregulated expression of a limited repertoire of metabolic genes. The nature of the corresponding metabolic rearrangement and pathways may help guide further investigations into its etiology. Legal entity responsible for the studyFudan University Shanghai Cancer Center. FundingNational Human Genetic Resources Sharing Service Platform (2005DKA21300), National Natural Science Foundation of China (81602078),. DisclosureAll authors have declared no conflicts of interest.

186P - Efficacy and safety of sorafenib following hepatic resection in patients with hepatocellular carcinoma: A meta-analysis

BackgroundSorafenib is a multikinase inhibitor used to treat patients with unresectable hepatocellular carcinoma (HCC); however, there is no consensus on its efficacy in patients with HCC post hepatic resection. Therefore, this meta-analysis (PROSPERO ID: CRD42019122147) assessed efficacy and safety of sorafenib in patients with HCC who underwent hepatic resection. MethodsUsing PICO framework, relevant articles were retrieved from PubMed, EMBASE, Cochrane Library and Google Scholar. Articles comparing outcomes of sorafenib treated patients with HCC who underwent resection with those not receiving sorafenib were included for the analysis The primary outcome was overall survival (OS) while disease free survival (DFS), tumor recurrence rate (TRR), mortality and safety were the secondary outcomes. Hazard ratio (HR) or risk ratio (RR) along with 95% confidence interval (CI) were calculated by fixed or random effects (FE or RE) model, based on the heterogeneity. P < 0.05 was considered significant. The effect of portal vein tumor thrombosis (PVTT) and time of initiation of sorafenib therapy on survival were assessed by subgroup analysis. ResultsA total of 10 studies with data of 589 patients (mean age 52.41 years; men: 87.28%; women: 12.72%) were included in the analysis. Sorafenib significantly prolonged OS (n = 5; FE; HR: 0.69; 95% CI; 0.52, 0.93; P =.0139), reduced TRR (n = 8; FE; RR: 0.91; 95% CI: 0.83, 0.98; P =.0187) and mortality (n = 7; FE; RR: 0.75; 95% CI: 0.63, 0.88; P =.0007) in patients with HCC following hepatic resection compared to the control group. Further, DFS in the sorafenib group was non-significantly better than the control group (n = 5; FE; HR: 0.78; 95% CI: 0.56, 1.09; P =.1462). Although, the proportion of adverse events (AEs) was higher in the sorafenib group (81.1% vs 18.9%), the AEs were tolerable. Subgroup analysis revealed sorafenib to be more effective (lower TRR and mortality) in patients without PVTT than those with PVTT. ConclusionsAdjuvant sorafenib treatment improved survival outcomes in HCC patients post hepatic resection and had acceptable safety profile. Hence, sorafenib could be recommended as an adjuvant therapy for patients with HCC after hepatic resection. Legal entity responsible for the studyThe authors. FundingScience Fund for Creative Research Groups, NSFC, China (81521091); State key infection disease project of China (2018ZX10732202-002-005); National Human Genetic Resources Sharing Service Platform (2005DKA21300);. DisclosureAll authors have declared no conflicts of interest.

Analysis of human genetic resources management

Objective To explore the management of human genetic resources in our university, propose relevant suggestions for promoting the appropriate protection and scientific management of human genetic resources. Methods Based on the existing regulations and policies, discuss the potential problems relevant to how to strengthen management of human genetic resources in China at institute level. Results Main problems identified including the management scope of human genetic resources is not clear, the inconsistence of application materials, the informed consent and its process involved in biobank and lack of the management of whole process of human genetic resources exploration. Conclusions With the rapid development of biotechnology, the economic value and strategic significance of human genetic resources have become increasingly prominent. Enhancement of training and whole process management, as well as the improvement of informed consent for biobank play important roles in effectively improve the protection of human genetic resources. Key words: Human genetic resources; Management; Protection

EYE ON CHINA

China approves norovirus vaccine for clinical trial. Public hospitals in China receive increasing government funds. Tax incentives for top talents in the Greater Bay Area. National Health Commission of China calls for production of generic drugs. AI offers breakthrough in cancer diagnosis. Drug-free theranostic agent for cancer treatment. E-healthcare innovation competition finishes in Shanghai. Bioindustry Convention held in Guangzhou. China’s State Council publishes new regulations on the management of human genetic resources. Chinese institutions ranked high in Nature Index. US$120 million joint venture in China to develop innovative cell therapies for cancer. Digital mental health strategy in China.

Management of Data Sharing of Human Genetic Resources and Its Enlightenment to China

Human genetic resources are valuable for life science research and pharmaceutical industry.Competitions for human genetic resources and the relevant techniques and industries have increasingly become intense among countries with the the implementation of precision medicine strategy and the maturity of gene editing technology.In the context of scientific progress and efficiency,the Organisation for Economic Co-operation and Development,the most important international economic organization,has proposed solutions to technological development and research paradigm changes from the perspective of national and global public interests.The United States,Japan,the United Kingdom,and some other developed countries have also released their policies and guidelines on the sharing of genetic resource data.In this article we analyzed these policies and guidelines,with an attempt to further improve the administration of human genetic resource sharing in China and promote the legal sharing and effective use of these resources.

Pre-pregnancy maternal fasting plasma glucose levels in relation to time to pregnancy among the couples attempting first pregnancy

STUDY QUESTIONWhat is the relationship between pre-pregnancy maternal glucose levels and fecundability in Chinese couples?SUMMARY ANSWERElevated pre-pregnancy maternal glucose levels were associated with fecundability, as reflected by prolonged time to pregnancy (TTP) among the couples with no prior gravidity.STUDY DESIGN, SIZE, DURATIONBased on the National Free Pre-conception Check-up Projects supported by the Chinese government, 2 226 048 eligible couples attempting first pregnancy and participating in the project from 2015 to 2016 were included. They were followed-up for 1 year or until they reported pregnancy.PARTICIPANTS/MATERIALS, SETTINGS, METHODSThe Kaplan–Meier method was used to estimate the cumulative pregnancy rate in each menstrual cycle, and the discrete-time analogue of the Cox models was used to estimate the fecundability odds ratios (FORs) and 95% CIs by different pre-pregnancy maternal glucose levels (impaired fasting glucose (IFG) or diabetes as compared to normal).MAIN RESULTS AND THE ROLE OF CHANCEThe cumulative pregnancy rate for 12 cycles of the normal fasting plasma glucose (FPG) level group was 42.29%, significantly higher than that of the IFG (35.52%) and diabetes groups (31.52%). After adjusting for confounding factors, the FORs were 0.82 (95% CI: 0.81–0.83) and 0.74 (95% CI: 0.72–0.76) for the IFG and diabetes groups, respectively, as compared to the normal group. The association between pre-pregnancy maternal FPG levels and the FORs was non-linear, and the optimal FPG level for greatest fecundability (shortest TTP) was 3.90–4.89 mmol/L.LIMITATIONS, REASONS FOR CAUTIONThe findings from this register-based cohort study require cautious interpretation given that information bias would be inevitable for single FPG measurements and for TTP calculations that were based on telephone follow-up information. Additionally, because couples who achieved pregnancy during their first menstrual cycle in the study were excluded, the pregnancy rates reported were low and possibly biased.WIDER IMPLICATIONS OF THE FINDINGSThe current report suggests that elevated pre-pregnancy maternal glucose levels were associated with prolonged TTP. Early evaluation and preventive treatment for female partners with IFG or diabetes in a pre-pregnancy examination are necessary.STUDY FUNDING/COMPETING INTEREST(S)Funding was provided by the National Key Research and Development Program of China (grants No. 2016YFC1000300 and 2016YFC1000307), the National Natural Science Foundation of China (grant No. 81872634), the CAMS Innovation Fund for Medical Sciences (grant No. 2018-I2M-1-004), the National Human Genetic Resources Sharing Service Platform (grant No. 2005DKA21300) and the National Population and Reproductive Health Science Data Center (grant No. 2005DKA32408), People’s Republic of China. The authors have no conflicts of interest to declare.TRIAL REGISTRATION NUMBERN/A

The Emergence of the Concept of "Genomic Sovereignty" and Analysis of the related Policies and Regulations

Background and Aim: With look to the significance and value of human genetic resources in research, this study aimed to analyze the emerging concept of genomic and related policies and regulations. Materials and Methods: legal documents and acts regarding access to human bio-samples and the emerging concept of sovereignty in developing countries were purposefully searched and then, the concept and its legal aspects were analyzed. Findings: Genomic is the capacity of a people, a country or nation to own, to control both access to and use of the samples, data and knowledge concerning or emanating from materials. This concept has primarily emerged from those developing economies such as Mexico, India, China, Brazil, Thailand and South Africa that felt the need to protect their biogenetic resources and genetic uniqueness from being abused and exploited by third parties. In this regard, the developing countries in order to implement of genomic should establish regulations in the field of controlling and the access to national human genetic resources. Conclusion: The findings showed that developing countries applying the sovereignty should develop their capacity in halting bio piracy and strengthen their role in international genetic researches. For Iran, as a country with eligible statue in biotechnology technically and scientifically, such a pattern would contribute to establishing a coherent legal order especially when it comes to cooperating with foreign researchers in international genetic researches. Please cite this article as: Mirmohammadi M. The Emergence of the Concept of Genomic Sovereignty and Analysis of the related Policies and Regulations. Bioethics Journal 2018; 8(27): 59-72.

EYE ON CHINA

China to improve management on human genetic resources. Vaccine maker Changsheng fined 9.1 billion yuan in safety scandal. Feeding pigs kitchen leftovers behind outbreak of African swine fever. Tibetan fungus could help fight liver cancer. Better treatment for liver transplant rejection. Standards for TCM decoction to be applied globally. RMB200 million donation to build Tsinghua University Biomedical Sciences Building. Series of manufacturing disasters highlights importance of partner due diligence in China. Medopad and Tencent develop advanced AI for Parkinson’s disease. First-ever opium poppy genome assembled. LncBook: a curated knowledgebase of human long non-coding RNA. Artificial fusion proteins to enhance methanol bioconversion. Proposed law change to increase penalties for drug violations. 17 anti-cancer drugs covered under medical insurance. Rules issued for online medical advice.

Abstract 4167: MUC3A promotes lung cancer progress via activating NFκB pathway and attenuates radiosensitivity

Abstract MUC3A is highly expressed in 40% of lung adenocarcinoma, but its functions and effects on clinical outcomes are not well understood. Tissue microarray of 92 patients' tumor samples from Chinese National Human Genetic Resources Sharing Service Platform indicated that highly expression of MUC3A was associated with poor prognosis, advanced staging and low differentiation. IP-MS and co-IP results revealed that MUC3A interacted with RELA and activated the NFκB pathway via promoting RELA phosphorylation and interfering the binding of RELA to IκB. MUC3A knockdown significantly suppressed cell proliferation and induced G1 arrest via down-regulating cell cycle checkpoints such as CDK2/4/6 and Cyclin D1. MUC3A deficiency increased γ-H2AX phosphorylation and increased radiation-induced DNA double strain breaks. MUC3A knockdown inhibited the BRCA-1/RAD51 pathway and nuclear translocation of P53 and XCRR6, suggesting that MUC3A promote DNA damage repair and attenuate radiation sensitivity. Moreover, MUC3A deficiency induced autophagy in lung cancer cells and increased the protein levels of LC3 II and Beclin-1. MUC3A knockdown significantly suppressed tumor growth in H1975 xenograft model and had a synergistic effect with radiation. Less nuclear translocation of RELA and P53 was also observed in tumor tissue in vivo. Our studies indicated that MUC3A was a potential oncogene and its highly expression was associated with unfavorable clinical outcomes in patients with lung adenocarcinoma, who should be more frequently follow-up, and might benefit less from radiotherapy. Citation Format: Yingming Sun, Chengcheng You, Shijing Ma, Yuan Luo, Yan Gong, Yu Xiao, Junhong Zhang, Conghua Xie. MUC3A promotes lung cancer progress via activating NFκB pathway and attenuates radiosensitivity [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 4167.

Research on Human Genetic Resources Sharing Mechanism

Human genetic resources are important biological resources of genetic and environmental factors to analyze the genetic structure, institutional conditions, disease incidence and medical research of specific groups in the region, which have high scientific research and application value. Currently, as to the application of resources, China’s human genetic resources platform uses a high degree of a public welfare sharing mechanism, and to their own intellectual property protection investment is inadequate, resulting in poor resource value recovery, and poor value of resource collection and management processes. This not only has a negative impact on the sustainable operation of China’s human genetic resources platform, but has also affected the effective use of human genetic resources. This paper puts forward the research on the sharing mechanism of human genetic resources, with focus on the analysis of resource-sharing cooperation mode, the market-oriented mode of resource development, and the construction of the economic model of resource application. According to this, the paper gives rational application suggestions, and provides a more viable fundamental plan to achieve full value of human genetic resources.

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on biological processes. Furthermore, there remains an unmet demand for an efficient survey of the wealth of information on human homologs in model organisms across numerous databases. To efficiently assess the large volume of publically available information, it is important to provide a concise summary of the most relevant information in a rapid user-friendly format. To this end, we created MARRVEL (model organism aggregated resources for rare variant exploration). MARRVEL is a publicly available website that integrates information from six human genetic databases and seven model organism databases. For any given variant or gene, MARRVEL displays information from OMIM, ExAC, ClinVar, Geno2MP, DGV, and DECIPHER. Importantly, it curates model organism-specific databases to concurrently display a concise summary regarding the human gene homologs in budding and fission yeast, worm, fly, fish, mouse, and rat on a single webpage. Experiment-based information on tissue expression, protein subcellular localization, biological process, and molecular function for the human gene and homologs in the seven model organisms are arranged into a concise output. Hence, rather than visiting multiple separate databases for variant and gene analysis, users can obtain important information by searching once through MARRVEL. Altogether, MARRVEL dramatically improves efficiency and accessibility to data collection and facilitates analysis of human genes and variants by cross-disciplinary integration of 18 million records available in public databases to facilitate clinical diagnosis and basic research.

Phasing for medical sequencing using rare variants and large haplotype reference panels.

Motivation: There is growing recognition that estimating haplotypes from high coverage sequencing of single samples in clinical settings is an important problem. At the same time very large datasets consisting of tens and hundreds of thousands of high-coverage sequenced samples will soon be available. We describe a method that takes advantage of these huge human genetic variation resources and rare variant sharing patterns to estimate haplotypes on single sequenced samples. Sharing rare variants between two individuals is more likely to arise from a recent common ancestor and, hence, also more likely to indicate similar shared haplotypes over a substantial flanking region of sequence.Results: Our method exploits this idea to select a small set of highly informative copying states within a Hidden Markov Model (HMM) phasing algorithm. Using rare variants in this way allows us to avoid iterative MCMC methods to infer haplotypes. Compared to other approaches that do not explicitly use rare variants we obtain significant gains in phasing accuracy, less variation over phasing runs and improvements in speed. For example, using a reference panel of 7420 haplotypes from the UK10K project, we are able to reduce switch error rates by up to 50% when phasing samples sequenced at high-coverage. In addition, a single step rephasing of the UK10K panel, using rare variant information, has a downstream impact on phasing performance. These results represent a proof of concept that rare variant sharing patterns can be utilized to phase large high-coverage sequencing studies such as the 100 000 Genomes Project dataset.Availability and implementation: A webserver that includes an implementation of this new method and allows phasing of high-coverage clinical samples is available at https://phasingserver.stats.ox.ac.uk/.Contact: marchini@stats.ox.ac.ukSupplementary information: Supplementary data are available at Bioinformatics online.

Potential International Approaches to Ownership/Control of Human Genetic Resources.

In its governance activities for genetic resources, the international community has adopted various approaches to their ownership, including: free access; common heritage of mankind; intellectual property rights; and state sovereign rights. They have also created systems which combine elements of these approaches. While governance of plant and animal genetic resources is well-established internationally, there has not yet been a clear approach selected for human genetic resources. Based on assessment of the goals which international governance of human genetic resources ought to serve, and the implications for how they will be accessed and utilised, it is argued that common heritage of mankind will be the most appropriate approach to adopt to their ownership/control. It does this with the aim of stimulating discussion in this area and providing a starting point for deeper consideration of how a common heritage of mankind, or similar, regime for human genetic resources would function and be implemented.

Land-grabs, Biopiracy and the Inversion of Justice in Colombia

The possibility of commercially exploiting plant, animal and human genetic resources unlocked by biotechnology has given rise to a wide range of cultural, environmental, ethical and economic conflicts. While supporters describe this activity as bioprospecting, critics refer to it as biopiracy. According to this latter view, international legal agreements and treaties have disregarded opposition and legalized the possibility of appropriating genetic resources and their derivative products through the use of patents. The legal framework that permits the appropriation of natural genetic products in Colombia also criminalizes aspects of traditional ways of life and enables a legally approved but socially harmful land-grabbing process. The article describes these processes and impact in terms of the inversion of justice and the erosion of environmental sustainability.

Privacy and Biobanking in China: A Case of Policy in Transition.

Disease-based biobanks have operated in hospitals and research institutes in China for decades, and China has recently embarked on a plan to establish further biobank networks with the aim of promoting data sharing among the existing biobanks. Although the Chinese Constitution has only recently begun to recognize individual privacy as a distinct and independent constitutional right, biobanking in China has been loosely regulated under a patchwork of sometimes overlapping laws (such as the Interim Measures for the Administration of Human Genetic Resources) and regulatory instruments, as well as and the policies of individual biobanks and networks of biobanks (such as the Shanghai Biobank Network Guidelines). A Draft Ordinance on Human Genetics Resources is currently being developed that will deal in more detail than previous laws with issues such as management measures, legal liability, and punishment for violations. International data sharing will be tightly regulated under this new law, and individual biobanks' policies such as the Shanghai Guidelines may choose to regulate such sharing even more. In contrast with national regulatory instruments, the Shanghai Guidelines also contain detailed de-identification policies, and explicitly endorse broad consent.

İnsan Genetik Kaynaklarının Korunmasında Bilgilendirilmiş Onam: Çin Mevzuatındaki Evrimsel Değişimler

Objective: The human genetic resources are the base of innovative research in the field of life science and technology nowadays. The concrete practice of informed consent is of great significance in reasonable protection of human genetic resources. The aim of this study was to compare the common ground and difference of informed consent between the collection, preservation and utilization of human genetic resources for the purpose of scientific research and such activities in clinical care and clinical trial, and discusses how to reflect and provide for informed consent in the legislation of human genetic resources. Material and Methods: The relevant Chinese laws and regulations since 1993 and Regulations on the Administration of Human Genetic Resources (Submission for Review) was collected and compared. And the practical dilemma of informed consent was analyzed from the perspective of ethics, law and social implications. Results: Informed consent in the human genetic resources collection, preservation and research and development activities has demonstrated different characteristics on the aspects of the subject of informed consent, informed contents and re-consent etc., which are also the very dilemma confronted by the practice of informed consent in the human genetic resources protection. Conclusion: The reasonable provision in human genetic resources-related legislation on informed consent should take into account both the human dignity and Self-Determination and the particularity of human genetic resources and social and natural human attributes.