Human Genomic Information Research Articles

The Protection of Human Genetic Information in the EU: Ethical, Constitutional and Criminal Law Aspects

The European Union has achieved a significant milestone through the widespread implementation of genomic and postgenomic technologies in diverse fields including personalized and regenerative medicine, immunology, nutrition practices, sports medicine, and the wellness industry. This article revolves around the practical application of genomics and EU bioethics, with a specific emphasis on investigating the cutting-edge legal methodologies referred to as Lex Genetica and Legal Biotech. The European Union market for genomic research is presently experiencing significant and swift expansion, coupled with ongoing progress and effective integration of genetic technologies. Consequently, there exists a pressing necessity to strengthen legal protections and guarantees, specifically concerning the privacy of human genomic information, within the domain of EU criminal legislation. Within the framework of Horizon Europe, a funding program dedicated to research and innovation, the European Union (EU) prioritizes three pillars, with one specifically focused on tackling global challenges and augmenting the competitiveness of European industries. The “health” cluster within this pillar underscores the significance of advancing healthcare technologies, reducing health hazards, protecting communities, and fostering the welfare of individuals. Genomic research harbors immense possibilities in achieving these aims and has emerged as one of the most pioneering and groundbreaking fields in recent years. This paper aims to complement prior publications by offering an updated analysis of selected topics since 2018. The urgency of legal regulations for all the accompanying processes becomes evident within the global roll-out of postgenomic technologies and the pan-European tendency to move from fundamental exploratory research to the practical application of omics technologies in the EU (the study of genome, proteome, and metabolome). Numerous jurisdictions in the EU provide for gene-related offenses, including cloning, modifying the human germ line, and dispersing GMOs without appropriate authorizations. However, the specific offenses vary in the EU countries to a large degree.

ORGANIZATIONAL PRINCIPLES OF THE USE OF FORENSIC DNA ANALYSIS IN THE INVESTIGATION OF CRIMINAL OFFENSES

This article studies organizational principles of forensic DNA analysis as the area of practical activities in the field of detection and investigation of criminal offenses. The author defined the list of organizational principles of forensic DNA analysis, disclosed their content, and determined the conditions for implementation in Ukraine. It was established that these principles are: legality, that is, strict compliance with the requirements of the law at all stages of collecting and researching biological material, using and storing genomic information; an exclusively procedural form of using DNA analysis in criminal proceedings; proper functioning of forensic accounting of human genomic information; formation of DNA analysis as a separate section of forensic technology; its organizational and technical support, which primarily involves the accreditation of forensic genetics laboratories according to the European quality standard and compliance with the conditions regarding technical equipment and personnel support. It is substantiated that the implementation of these principles necessitates the need to take a number of regulatory and organizational measures at the national level to ensure at least the minimum conditions for the effective use of forensic DNA analysis technologies, namely: to improve legal norms at least in the aspect of regulation of procedures for obtaining biological material, management of DNA databases and protection of genomic information; determine exclusively the procedural form of using DNA analysis in the criminal process, regulating, in addition to molecular genetic examination, verification studies; to intensify scientific research in the field of criminalistics in the direction of DNA analysis and to introduce relevant topics into educational programs for the training of lawyers and law enforcement officers; to coordinate the work of various DNA analysis laboratories in the context of their accreditation, technical equipment with compatible equipment and personnel training.

USING THE METHODS OF GENETIC FINGERPRINTING FOR PERSON IDENTIFICATION AND FORMATION OF THE STATE GENOME DATABASE (INTERNATIONAL AND NATIONAL EXPERIENCES)

Person identification using the methods of genomic fingerprinting contributes to the distinction of individuals by their DNA samples. In some regional agencies of the Ministry of Internal Affairs of Ukraine, laboratories have been established and operate at research forensic centers that carry out identification following the human genome. Due to the lack of the necessary legislative framework in Ukraine, there was no unified national register – the state genome database, except for the DNA register of unidentified deceased persons. With the adoption in 2022 of the Law of Ukraine “On State Registration of Human Genomic Information”, the relevant issue progressed at the legislative level. At the same time, many practical problems arose after. In order to solve them, it was decided to compare the international and national experiences.

Abstract 5713: Assessing the real-world utility of cell-free microbial DNA in diagnosing early-stage lung cancer

Abstract Introduction: Links between cancer and microbes date back four millennia (Sepich-Poore et al. 2021. Science). Recently, we found that microbial DNA is detectable in tumor tissues and patient blood from many human cancer types (Poore et al. 2020. Nature). These intratumoral and bloodborne microbiomes were distinct between cancer types, between normal and malignant tissues, and present in cell-free plasma samples. However, the practical utility of cell-free microbial DNA (cf-mbDNA) as a bona fide liquid biopsy diagnostic, including its applicability in early-stage disease in treatment-naïve individuals, distinguishing histological subtypes, and discriminating against non-cancer-but-diseased patients remains unknown. Thus, we constructed an age and sex-matched cohort of >1000 individuals with lung cancer, lung disease, and no disease (healthy) to evaluate the utility of a cf-mbDNA-driven liquid biopsy diagnostic. Methods: Shallow shotgun metagenomic sequencing with gold-standard positive and negative controls was performed using 400 µL of patient plasma. Direct genome alignments separated human and microbial reads, and generated genome-wide binned and species-level abundances, respectively. Novel taxonomic diversity was captured by additionally performing de novo co-assemblies in tandem with tumor and blood samples from The Cancer Genome Atlas (TCGA). Multi-modal, stacked machine learning classifiers then evaluated the diagnostic performance of microbial-only and multi-species (microbial + human) information. Results: Cf-mbDNA provides strong diagnostic performance in treatment-naïve, cancer-bearing individuals versus age and sex-matched healthy controls, as early as stage I disease (AUROCs≥0.90). Furthermore, cf-mbDNA outperforms histological classification compared to human genomic information. Multi-species models paired with routinely-available clinicodemographic information provided robust discrimination of lung cancer versus lung diseases (AUROC≥0.80). Importantly, the addition of cell-free microbial information produced an integrated model surpassing the diagnostic performance of PET-CT and clinical risk models for lung nodule malignancy determination in a blinded validation cohort of Stage I lung cancer and non-cancer lung disease samples. Conclusion: Cf-mbDNA features comprise a novel class of biomarkers that are combinable with host analytes, and show promise for real-world, early-stage, lung cancer diagnosis. Citation Format: Serena Fraraccio, Stephen Wandro, Akanksha Singh-Taylor, Sandrine Miller-Montgomery, Eddie Adams, Rob Knight, Leopoldo N. Segal, Harvey I. Pass, Gregory D. Sepich-Poore. Assessing the real-world utility of cell-free microbial DNA in diagnosing early-stage lung cancer. [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 5713.

Legal issues and risks associated with implementation of electronic register of human genomic information in Ukraine

It is proposed to specify in the Law of Ukraine “On the State Registration of Human Genomic Information” some provisions regarding military personnel, policemen, members of the rank and file of the civil defense service, as well as members of voluntary formations of territorial communities, from which the selection of biological material, in the event of the implementation of martial law, will be carried out in a mandatory manner, namely: specify the possibilities of extraction and destruction of genomic information in connection with: dismissal from military service and subsequent removal from military registration; with death in order to minimize the risks of access to personal data of a person and his relatives. The Law should clearly define the structure of the Electronic Register of Human Genomic Information. Considering the fact that martial law has been implemented in Ukraine, it is necessary to introduce the following independent section “Genomic information of unidentified human corpses, their remains and parts of the human body, missing persons and close relatives of missing persons”. It has been proven that it is necessary to carefully write down the issue of information protection, namely: which body monitors compliance with information protection requirements; how to ensure the protection of the information of the Electronic Register of Human Genomic Information.

STATE REGISTRY OF HUMAN GENOMIC INFORMATION IN UKRAINE: HOW TO ACHIEVE A BALANCE BETWEEN LAW, MEDICINE AND ETHICS.

The aim: The purpose of this study is to analyze the provisions of the Law of Ukraine "On State Registration of Human Genomic Information" and to make proposals for its improvement taking into account international experience. Materials and methods: The study was conducted on the basis of the analysis of normative material, investigative and judicial practice, decisions of the ECtHR, the position of experts involved in the process of identification of deceased persons, which was expressed during the Second All-Ukrainian Forum of Forensic Experts on June 17, 2022, and a working meeting of the leadership of the KNDISE, DSU "Main Bureau of Forensic Medical Examination of the Ministry of Health of Ukraine" with a representative of the European Training Center for Identification of Victims of Natural Disasters and Forensic Examination in Central Europe (ETAF) (Germany). Conclusions: The Law of Ukraine «On the State Register of Human Genomic Information» is a progressive step towards normalizing the use of DNA analysis as an evidence tool. The detailed regulation of the types of information and subjects subject to DNA testing, taking into account the procedural status of the person, the gravity of the crime or official duties, fully complies with international standards. At the same time, the issue of legal certainty and compliance with the principle of confidentiality requires additional elaboration, since the provision of genomic information obtained in accordance with this law to the authorities of foreign states is possible only if these authorities and the relevant competent authority of Ukraine can establish such a regime of access to infor¬mation that makes it impossible disclosure of information for other purposes or its disclosure in any way, including through unauthorized access. The procedure for selecting, storing, and using genomic information and enshrining it in this law requires unification, as the extensive departmental approach creates risks for the quality of the law, improper use of information, and minimizes the guarantee of its protection.

Проблеми нормативного регулювання державної реєстрації геномної інформації людини

The purpose of this article is to identify problematic issues in the normative regulation of state registration of human genomic information and to make proposals to facilitate their resolution. The methodological basis of the study was various general scientific and special research methods: analysis, structural and functional, synergistic, regulatory and logical, comparative and legal, analogy, extrapolation, and legal interpretation. Main conclusions. Genetic information makes it possible to identify a person with high accuracy and, accordingly, is of great practical importance in matters of prevention, investigation, detection of crimes, and identification of the persons who committed them, allows to improve the work of searching for missing persons and identification of unrecognizable human corpses, etc. Forensic examinations based on molecular genetic studies are conducted by forensic experts of forensic research institutions of the Ministry of Justice of Ukraine, expert service of the Ministry of Internal Affairs of Ukraine, expert units of the Security Service of Ukraine in specialty 9.5 “Molecular genetic research” and experts of the Bureau of Forensic Medical Examination of the Ministry of Health of Ukraine, specializing in forensic medical examination. The author substantiates the need to develop and adopt the following procedures: mandatory state registration of human genomic information; voluntary state registration of human genomic information; storage of biological material selected for mandatory state registration of genomic information; destruction of biological material selected for state registration of genomic information.

Basic principles of legal regulation in the field of human genomic information processing in the context of implementation of international legal norms to national legislation

The article focuses on the analysis of human rights factors that are formed within the framework of international legal relations. The development of genomic research and expanding their application in domestic jurisprudence is a fairly new area of research in the field of public administration. On the basis of the synthesis of general scientific and specialized legal methods of research, the principles of regulation of relations on the processing of genomic information for human registration in Ukraine are formulated and substantiated, taking into account the threats to the dignity and rights of the human personality, namely: priority of life and health of citizens over interests of science and society in conducting molecular genetic examinations (research); confidentiality or protection of the genetic information of each citizen as part of personal data; equality of citizens regardless of genetic characteristics; guarantees of personality of person when using genomic technologies; observance of human and citizen’s rights and freedoms in the exercise of the rights and freedoms of others; guarantees of a citizen’s accessibility to their own genetic information; preventive actions of the state to protect citizens from the risks of loss, damage, distortion, misuse, unauthorized access to genomic information; exchange of genomic information with other countries and international organizations. In the context of implementation of international legal norms, the proposed principles are of particular importance, since they allow to maintain the balance of legal regulation and serve as a guide for law enforcement. The proposal for the application of a number of principles of processing of human genome information must be enshrined in the Law of Ukraine «On State Registration of Genomic Information», which will facilitate the formation of legal bases into the national system of law.

Drug response prediction using graph representation learning and Laplacian feature selection

Knowing the responses of a patient to drugs is essential to make personalized medicine practical. Since the current clinical drug response experiments are time-consuming and expensive, utilizing human genomic information and drug molecular characteristics to predict drug responses is of urgent importance. Although a variety of computational drug response prediction methods have been proposed, their effectiveness is still not satisfying. In this study, we propose a method called LGRDRP (Learning Graph Representation for Drug Response Prediction) to predict cell line-drug responses. At first, LGRDRP constructs a heterogeneous network integrating multiple kinds of information: cell line miRNA expression profiles, drug chemical structure similarity, gene-gene interaction, cell line-gene interaction and known cell line-drug responses. Then, for each cell line, learning graph representation and Laplacian feature selection are combined to obtain network topology features related to the cell line. The learning graph representation method learns network topology structure features, and the Laplacian feature selection method further selects out some most important ones from them. Finally, LGRDRP trains an SVM model to predict drug responses based on the selected features of the known cell line-drug responses. Our five-fold cross-validation results show that LGRDRP is significantly superior to the art-of-the-state methods in the measures of the average area under the receiver operating characteristics curve, the average area under the precision-recall curve and the recall rate of top-k predicted sensitive cell lines. Our results demonstrated that the usage of multiple types of information about cell lines and drugs, the learning graph representation method, and the Laplacian feature selection is useful to the improvement of performance in predicting drug responses. We believe that such an approach would be easily extended to similar problems such as miRNA-disease relationship inference.

Legal regulation registration of human genomic information: international and domestic experience

The article analyzes the main regulatory and legal documents that regulate the issue of legal regulation of the state registration of human genomic information in Ukraine. It has been established that the functioning of the database of human genomic information in Ukraine is currently regulated by the Instruction on the Organization of the Operation of Forensic Records of the Expert Service of the Ministry of Internal Affairs, approved by the Order of the Ministry of Internal Affairs of Ukraine dated September 10, 2009 No. 390. However, the sources of the formation of records of genetic characteristics defined by this Instruction do not provide an opportunity to effectively use the tool of the database data for the identification of missing persons, etc., since it is possible to ensure the effectiveness of the method of molecular genetic research only in combination with the maintenance of an automated DNA database.
 The relevance of the adoption of the Law of Ukraine "On State Registration of Human Genomic Information" is substantiated, which defines the legal principles of processing and state registration of human genomic information in Ukraine. Its main purpose and specifics of application are clarified, and the problems in terms of legal uncertainty regarding its compliance with international standards of human rights compliance are identified. The issues related to the technical protection of the Electronic Register of Information on Human Genetic Traits, which is a functional subsystem of the unified information system of the Ministry of Internal Affairs, are outlined, and suggestions for improving this area are provided. Attention is focused on the relevance of international cooperation regarding the exchange of genomic information with other countries and international organizations.
 The role of the International Committee of the Red Cross was clarified, the statistics of identification of missing persons by this organization were analyzed. Attention was drawn to the role of the International Commission on Missing Persons, which has considerable experience in this field. Analyzed: positive international experience of registering human genomic information of Great Britain, USA, Thailand, Brazil; The Prüm Treaty on providing Member States of the European Union with automatic access to genetic databases, fingerprints and information on crimes related to drug trafficking.
 It was concluded that the realities of the times necessitate the introduction and use of advanced technologies that have existed in the field of human genomic identification for more than three decades - DNA molecular genetic research and a data bank of human genetic features, which will contribute to the prompt solution of socially significant tasks.

Directions for improving the legal regulation of forensic DNA analysis in Ukraine in the context of integration into the European Union

An analysis of European standards and main trends in the field of legal regulation of forensic DNA analysis has been carried out. It has been established that the general European legislation defines recommendations on the general principles of using DNA analysis within the framework of the criminal justice system, establishes the obligation of each state to create and maintain a national DNA database, exchange information based on DNA databases, take measures to protect personal data, store DNA profiles of persons convicted of sexual offenses against children, to accredit forensic laboratories to ensure the proper quality of molecular genetic research. Taking into account the experience of European countries, it can be seen that a comprehensive approach to the improvement of domestic legislation, namely the implementation of the law on the national DNA database, the introduction of amendments and additions to the current Code of Criminal Procedure of Ukraine, other laws and departmental regulations regarding the use of DNA analysis in criminal proceedings, is a necessary prerequisite for bringing this area of law enforcement to a new qualitative level. Together with the adoption of the Law of Ukraine “On the State Registration of Human Genomic Information”, it is necessary to introduce changes and additions to the Code of Criminal Procedure of Ukraine in order to harmonize the provisions of these normative legal acts, which primarily concern the improvement of the procedure for obtaining samples for molecular genetic research. It has been substantiated that the experience of Germany and the Netherlands regarding the legal regulation of mass DNA testing at the stage of pre-trial investigation of serious and especially serious crimes can be useful for Ukraine. Taking into account the rapid development of forensic DNA analysis technologies and the introduction of the latest methods, which are characterized by a much greater degree of interference in the personal and family life of a person, compared to traditional methods of STR profiling, there is a need for a legislative definition of the permissible limits of forensic DNA research within the framework of criminal proceedings in Ukraine.

Legal regulations of national registers of human biological data

The article is devoted to issues related to the formation of information databases used to identify individuals and identify those involved in crimes. Fingerprint and DNA identification are increasingly used both at the national level and within the framework of international cooperation in criminal proceedings. The United Nations has called for new scientific approaches to be used in criminal investigations. However, the creation of national registers (collection, accumulation, storage, transfer to other states on request) requires adequate legal support, which allows to strike a balance between ensuring the security of society and the state from criminal encroachment and human rights standards. In Ukraine, there is currently no proper legal regulation of the functioning of national fingerprint registers, genetic profiles, etc. In Ukraine, there is currently no proper legal regulation of the functioning of national fingerprint registers, genetic profiles, etc. In accordance with international standards and proper cooperation in the fight against transnational crime, in particular, the following databases should be created. The registered draft Law of Ukraine “On State Registration of Human Genomic Information” needs to be analyzed in detail, taking into account the experience of other states and the practice of the European Court of Human Rights. Ukraine has a number of databases that are regulated differently. Fingerprints are digitized in the case of obtaining a passport of a citizen of Ukraine for travel abroad, and if desired, for a domestic passport, which is regulated by law. At the same time, there is a database of fingerprints, the procedure for its creation and use is regulated by an order of the Ministry of Internal Affairs, which directly contradicts the position of the ECtHR (this should be a law or government document); the grounds for the selection of traces must be clearly defined (the current order stipulates that the Ministry of Internal Affairs may expand the list of crimes by its decision); it is necessary to provide a method of independent verification of the grounds for storage of biological traces, which is not currently provided in Ukraine. The concept of biological traces must be defined in accordance with the position of the ECtHR, according to which DNA, fingerprints and voice are as follows. It is expedient to adopt a law regulating the creation of the National Database of Human Biological Traces and not to leave the fingerprint database out of the legal field.

МІЖНАРОДНІ СТАНДАРТИ ПРАВОВОЇ РЕГЛАМЕНТАЦІЇ СУДОВОЇ ЕКСПЕРТИЗИ ТА ЇХ ВПРОВАДЖЕННЯ В УКРАЇНІ

At the beginning of the 19th century, there was a belief that eventually investigators, prosecutors and judges would have the knowledge to evaluate evidence without the involvement of "scientific judges" (experts). The unconditional forecast was refuted by the rapid development of science, as a result of which a stable awareness of the need to develop the theory of expertise and improve the methodology of conducting various types of expertise, which requires scientific and technical capabilities and regulatory as well as legal support, was formed. John Brockman justified the future of science in the 21st century, assessing it as a grand breakthrough in physics, chemistry, cybernetics, biology, artificial intelligence and psychology, and as one determining the pace of expertise development. A deeper understanding of the processes of existence and interaction of matter becomes an instrument for a more detailed analysis of a person's activity, which can be considered as an intervention in his personal life. Balancing the observance of individual rights, the state's performance of functions to ensure the safety of society and scientific opportunities requires an appropriate timely legal response, in order to avoid the risk of violating such a balance. Almost 30 years have passed since adoption of the Law of Ukraine "On Forensic Expertise", therefore, in order to make proposals for the legal regulation of the use of forensic expertise in criminal proceedings, an analysis of statistical data, judicial practice and the practice of the ECtHR was carried out. It is considered expedient: to determine the terms of the expert examination at the legislative level; to eliminate departmental dependence of experts when conducting an examination (in accordance with the practice of the ECtHR); to establish the grounds for conducting an examination on the initiative of the court (without a request from the parties); to create a state register of human genomic information and streamline its management in accordance with international standards; to determine the status of the specialist's conclusions in criminal proceedings.

Human Genetics Society of Australasia Position Statement: Use of Human Genetic and Genomic Information in Healthcare Settings

Human genetic and genomic information (HGI) is being generated, utilized and accessed across a wide range of healthcare settings. While traditionally clinical genetics services have maintained guardianship and enforced rigid protections of human genetic information, this is no longer practical or feasible as genetic knowledge continues to evolve, expand and inform various aspects of healthcare. Today, many healthcare professionals of varied backgrounds and areas of expertise are looking to genetic and genomic information to screen and/or diagnose genetic conditions and to guide medical management and treatment options. This position statement provides guidance for all healthcare professionals who may be handling human genetic and/or genomic information as part of their practice and outlines considerations relevant to protection, storage, access and sharing of HGI in Australasia. Illustrative cases are used to highlight various sensitivities of genetic and genomic information and challenges these may pose in modern healthcare settings. In essence, this position statement seeks to highlight and advocate for both individual interests as well as the interests of the broader family network.

Inhibitory effect of sodium butyrate on colorectal cancer cells and construction of the related molecular network

BackgroundSodium butyrate (NaB) is produced through the fermentation of dietary fiber that is not absorbed and digested by the small intestine.PurposeHere, we aimed to investigate the effects of NaB on the proliferation, invasion, and metastasis of CRC cells and their potential underlying molecular mechanism(s).MethodsThe cell counting kit-8 (CCK-8) assay and EdU assay were used to detect cell proliferation ability, flow cytometry was used to investigate the induction of apoptosis and cell cycle progression, and the scratch-wound healing and transwell assays were used to evaluate cell migration and invasion, respectively. The human CRC genome information for tissues and CRC cells treated with NaB obtained from the NCBI GEO database was reannotated and used for differential RNA analysis. Functional and pathway enrichment analyses were performed for differentially expressed lncRNAs and mRNAs. A protein-protein interaction (PPI) network for the hub genes was constructed using the Cytoscape software. Targeted miRNAs were predicted based on the lnCeDB database, and a ceRNA network was constructed using the Cytoscape software. The Kaplan-Meier method was used to analyze patient prognosis using the clinical information and exon-seq data for CRC obtained from the Broad Institute’s GDAC Firehose platform.ResultsNaB decreased the proliferation ability of CRC cells in a dose- and time-dependent manner. The number of apoptotic CRC cells increased with the increase in NaB concentrations, and NaB induced a G1 phase block in CRC cells. Moreover, NaB suppressed the migratory and invasive capabilities of CRC cells. There were 666 differentially expressed mRNAs and 30 differentially expressed lncRNAs involved in the CRC inhibition by NaB. The PPI network and ceRNA network were constructed based on the differentially expressed mRNAs and lncRNAs. Three differentially expressed mRNAs, including HMGA2, LOXL2, and ST7, were significantly correlated with the prognosis of CRC.ConclusionNaB induces the apoptosis and inhibition of CRC cell proliferation, invasion, and metastasis by modulating complex molecular networks. RNA prediction and molecular network construction need to be the focus of further research in this direction.

Development of shiny dashboard application for “genome-wide association study on analysis of SNPs injected in Homo sapiens genome (snips-HsG)”

Human genome information in databases is growing exponentially, and in future, the collection of these data will exceed 5v's (variety, volume, veracity, value, and velocity). Much of genetic variation exist among genomes of human individuals is mostly in the form of SNPs. Therefore, studying SNPs among individuals is important to analyze genetic risk and diversity. In this regard, the present preliminary study has developed an application on human reference genome before and after SNPs injection using R and hosted in https://snip-hsg.shinyapps.io/home/. In it, initially the comparison of nucleotide frequency between two copies of genomes are made and showed the nucleotide bias due to the SNPs sites. Secondly, genes of two copies of genomes are grouped into five different isochore families, L1 (<37% GC), L2 (37–42%), H1 (42–47%), H2 (47–52%), H3 (>52%) based on GC%. The results through histograms showed that there are differences in the GC% distribution among chromosomes and this study may help the biologist to examine the nucleotide frequency including GC% and isochore family differences comparatively between genomes. Thirdly, in the statistical analysis, the Shapiro–Wilk test provided the evidence that the data have non-normal distributions. Therefore, the values are considered for non-parametric test to validate the significance relationship between these two variables. From the Wilcoxon rank sum test and Chi-square test, the significance difference between gene sets of two copies of genome are projected that the two samples of measurements come from different distributions. The present descriptive and inferential analysis on SNPs in human genome may be useful for the biologists to access SNPs comfortably. One can use this application for comparison, easy access, downloading and visualizing.

Citizens' conceptions of the genome: Related values and practical implications in a citizen forum on the use of genomic information.

BackgroundThe development of large data sets, including genomic data, coupled with rapid advances in personalized medicine where citizens increasingly face complex choices about the use of their genomic information implies that citizens are essential stakeholders in genomics. They should be engaged in the ethical, legal and societal issues to produce a framework that fosters trust and allows them to guide the technology based on their values.ObjectiveThis article highlights that citizens' conceptions of the human genome inform about and make sense of their main values regarding the use of genomic information, which is critical for policymakers, experts and stakeholders to understand to maintain the public support in genomics.MethodThrough an inductive thematic approach, we reanalysed data collected for the Belgian citizen forum, which aimed to produce recommendations for the Ministry of Public Health and other stakeholders.ResultsCitizens expressed four conceptions of the genome that determined which uses of genomic information they supported: the most intimate part of individuals; ‘I am more than my genome’; the individual's property vs the common good; and uncertainty and fear.ConclusionDiversity in their conceptions reveals remaining conflicts of values among citizens, mainly regarding a conception of the genome as an individual property or a common good. However, despite differing conceptions, shared values emerged such as solidarity, privacy, no genetic discrimination and the right to an open future, where individual and common interests coexist.Patient or public contributionThe panel of the citizen forum consisted of 32 citizens.

Challenges of Precision Medicine for Atherosclerotic Cardiovascular Disease Based on Human Genome Information.

Precision or personalized medicine is currently gaining a lot of attention. Clinical evidence for its effectiveness has been established based on randomized clinical trials accounting for classical risk factors, such as hypertension, diabetes, and serum lipids. However, besides such classical risk factors, the genetic background should be considered, at least for heritable traits, including atherosclerotic cardiovascular disease (ASCVD). Such classical risk factors are almost always incidents that have already occurred in which it may be too late to start treatment, instead of indicators of presymptomatic state. Human genome information is associated with most traits, including ASCVD. Two methods of implementing precision medicine for ASCVD using human genome information are currently being investigated: the use of rare genetic variations that have large effect sizes and polygenic risk scores that are composed of multiple common genetic variations. This review article emphasizes the importance of clinical as well as genetic diagnoses when implementing precision medicine. Precision medicine should be considered based on comprehensive genetic analyses, encompassing rare to common genetic variations.

Correlations Between Phenotypes and Biological Process Ontologies in Monogenic Human Diseases.

A substantial body of research is focused to improve the understanding of the relationship between genotypes and phenotypes. Genotype-phenotype studies have shown promise in improving disease diagnosis in humans and identification of specific clinical phenotypes may be helpful in developing more effective therapeutic and diagnostic strategies. To expand on the existing paradigm of evaluating genotypes and phenotypes, we present an investigation of the correlation between biological processes as represented by genomic information and phenotypes in human disease. We focus on monogenic diseases and link biological process and phenotype utilizing information from the Online Mendelian Inheritance in Man, the Gene Ontology, and the Human Phenotype Ontology comprehensive genomic, phenotypic, and disease information resources. Our study uncovers 4661 statistically significant associations and identifies novel correlations between biological processes and phenotypes. We find new relationships between unique phenotype-genotype pairs related to cardiovascular diseases and hypertelorism, which suggests that differences between certain phenotype-genotype association may be the key to the divergence of corresponding phenotypes. Although the application of correlating genotype, phenotype, and biological processes may help to guide diagnosis and treatment of diseases, further investigation and more specific gene ontology descriptions are still required to elucidate mechanisms of action.

Knowledge, attitude, and practice towards pharmacogenomics among hospital pharmacists in Thailand.

Pharmacogenomics (PGx) is the use of human genomic information to avoid toxicity and optimize efficacy of drug therapy in an individual. Hospital pharmacists are the key persons to facilitate the incorporation of PGx into clinical practice. PGx is relatively new to Thai hospital pharmacists. Therefore, this study aimed to evaluate the knowledge, attitude, and practice of Thai hospital pharmacists towards PGx implementation. We conducted a cross-sectional questionnaire-based survey among 600 hospital pharmacists in 21 hospitals across Thailand. The questionnaire consisted of 35 questions using comment boxes, Likert scales, and multiple choice answers. The response rate was 20.5% (n = 123). Nearly half of the hospital pharmacists (46.3%) had low PGx knowledge score (<5 points), particularly for applied PGx knowledge in clinical situations. Concerns regarding PGx reimbursement, privacy issues, and discrimination were mentioned in this survey. However, most hospital pharmacists had positive attitude towards PGx service. Only 7% of hospital pharmacists had recommended or interpreted PGx tests in the past year. National PGx guidelines and government policies were considered the important factors for PGx implementation. Moreover, the most preferred learning format for PGx education was professional academic conferences. Hospital pharmacists in Thailand had positive attitude towards PGx, despite limited experience and practice of PGx. PGx education to support an application of PGx knowledge in clinical situations is required. National PGx guidelines and government policies may need to be developed to address the concerns for reimbursement, privacy, and discrimination to ensure successful PGx implementation.