MODERN MOLECULAR GENETIC TECHNOLOGIES IN MEDICINE: ETHICAL AND LEGAL ISSUES

2020 ◽  
Vol 16 (2) ◽  
pp. 123-133
Author(s):  
Рита Хусаинова ◽  
Евгения Ахтямова ◽  
Илдар Минниахметов ◽  
Регина Султанова
Keyword(s):  
Social Issues ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Legal Regulation ◽  
Hereditary Diseases ◽  
Genetic Diagnostics ◽  
Molecular Diagnostic ◽  
Dna Testing ◽  
Future Health ◽  
Dialectical Logic

Currently, the methods of molecular diagnostic technologies are being developed, improved and implemented in clinical practice, ensuring the progress of medicine. The strategy of the new direction - personalized medicine is diseases prevention and treatment based on the results of molecular genetic researches at the earliest stages of disease, however, the use of genetic testing raises a number of ethical, legal and social issues that require legislative regulation. Information obtained as a result of a genetic test allows us to predict future health status and assess the risks of pathological conditions, but can also be used by third parties to discriminate and infringe on human rights, as well as contain unexpected findings, affecting the family and descendants of the examined person. Aim: analysis and synthesis of theoretical knowledge and practical experience of legal regulation of the issues of preimplantation and prenatal genetic diagnostics; the use of genomic technologies for DNA typing of hereditary diseases and current trends in the improvement of regulatory legal acts in this field of research. Methods: empirical methods of comparison, description, interpretation; theoretical methods of formal and dialectical logic. Private scientific methods are used: legal-dogmatic and the method of interpretation of legal norms. Results: the experience of legal regulation of the genetic research regime both in the countries of the world and in national legislation is studied. It is concluded that the national regulatory framework needs to improve the legal regime of DNA testing. Some ways to resolve regulatory issues of DNA testing are identified.

scholarly journals Genetic researches in standards of delivery of health care

2018 ◽  
Vol 20 (1) ◽  
pp. 190-194
Author(s):  
V Yu Kravtsov ◽  
A I Solovev ◽  
I A Ivanov
Keyword(s):  
Health Care ◽  
Clinical Practice ◽  
Medical Care ◽  
Molecular Genetic ◽  
Hereditary Diseases ◽  
Medical Services ◽  
Genetic Diagnostics ◽  
Parasitic Diseases ◽  
Causative Agents ◽  
Molecular Genetic Diagnostics

The analysis of legal base of genetic researches in clinical practice is carried out. Modern standards of medical care are analyzed. The list of the diseases and pathological states demanding performance of genetic researches is made. The list of the medical services connected with genetic researches is also made. It is shown, that genetic researches make 10% of the nomenclature of medical services. From them about 60% medical services provide diagnosis of somatic pathology, the others are directed to identification of nucleinic acids of causative agents of infectious and parasitic diseases. Genetic researches are carried out mainly at a stage of specialized and primary medical care. Genetic researches are included in20% of standards of medical care. Genetic researches are conducted concerning 15 classes of diseases. More often genetic researches are conducted for diagnosis of the latent infections, enzimopatiya, hereditary diseases of a metabolism, and also cancer. There are some problems of cytogenetic and molecular genetic diagnostics in hospitals. Genetic researches are complex and expensive. Interpretation of the received results is difficult. It is necessary to develop standards of genetic researches. It is necessary to improve legal base of genetic researches.

Features of regulatory regulation of genetic research in the framework of prenatal diagnosis in the Russian Federation

2019 ◽  
Author(s):  
M.V. Medvedev , G.N. Suvorov , S.S. Zenin
Keyword(s):  
Assisted Reproductive Technologies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
New Techniques ◽  
Legal Norms ◽  
Molecular Genetic Diagnosis ◽  
The Russian Federation

The formation of new trends in the development of molecular genetic diagnosis has allowed to use this knowledge to identify pathologies of the child's development before his birth at the prenatal level. The use of new assisted reproductive technologies(art), aimed at combating infertility, allows to postpone this period even before the implantation of the embryo of the future mother. The use of new techniques should be carried out only for medical reasons, but the mechanism of their legal regulation has not been formed to date, which may be the basis for the use of genetic research carried out within the framework of art in the context of medical expediency. The above allows us to raise the question of the need to develop special legal norms that allow to solve the problem only from the perspective of modern bioethical ideas, but also from the perspective of the formation of law enforcement practice in this area.

scholarly journals L.O. Badalyan and current progress in the study of hereditary neuromuscular diseases

2020 ◽  
Vol 1 (1) ◽  
pp. 64-72
Author(s):  
Nikolay N. Zavadenko ◽  
Dmitry V. Vlodavets
Keyword(s):  
Genetic Locus ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Genetic Diagnostics ◽  
Global Trends ◽  
Pathogenic Mechanisms ◽  
Pathogenetic Therapy ◽  
Spinal Muscular Atrophies

Hereditary neuromuscular diseases (HNMD) represent a large group of heterogenic morbid conditions, characterized by muscular weakness, muscular atrophies, disturbances of postural control and locomotor functions. Scientific research on HNMD, performed by academician L.O. Badalyan and his followers laid the background for solving many issues, regarding the diagnosis and treatment of these severe, progressive diseases. In many ways, academician L.O. Badalyan and his followers have anticipated the current understanding of pathogenic mechanisms of HNMD, which later were disclosed by means of modern molecular-genetic technologies. HNMD include progressive muscular dystrophies (PMD), spinal muscular atrophies (SMA), hereditary motor and sensory neuropathies, myopathic syndromes. The most prevalent progressive HNMDs are represented by dystrophinopathies (Duchenne PMD and Becker PMD) and limb girdle HNMD. The authors discuss experience and achievements in the studies of HNMDs and PMDs, conducted by academician L.O. Badalyan and his followers, as necessary prerequisites for the creation of modern approaches to genetic diagnostics of the diseases and forming their genetic registries, development of methods of etiopathogenetic therapy. Thanks to the accumulated experience and research there were discovered genes, which determine the HNMD development, pathogenic mechanisms of diseases with heterogenic clinical manifestations were studied. The data were accumulated for the formation of patients registries, determining groups for which a particular drug is being developed. The progress in genetic research has made it possible to identify more than 30 forms of limb-girdle PMD. A newly published classification of limb-girdle PMD is given, illustrating their genetic heterogeneity, the type of inheritance, the genetic locus of the mutation and defective protein are now taken into account. The article lists promising current global trends in the development of approaches to pathogenetic therapy of dystrophinopathies and limb-girdle PMD.

scholarly journals International Legal Regulation of Preimplantation Genetic Diagnostics (PGD) and Trends in the Development of Russian Legislation in the Field of Assisted Reproductive Technologies

Lex Russica ◽  
2019 ◽  
pp. 9-17
Author(s):  
N. A. Altynnik ◽  
V. V. Komarova ◽  
M. A. Borodina ◽  
E. I. Suvorova ◽  
S. S. Zenin ◽  
...  
Keyword(s):  
Assisted Reproductive Technologies ◽  
Genetic Research ◽  
Reproductive Technologies ◽  
Legal Framework ◽  
Legal Regulation ◽  
Genetic Diagnostics ◽  
Chromosomal Disorder ◽  
Right Not To Know ◽  
The Right ◽  
Selection Of

The article analyzes key instruments of international legal regulation of preimplantation genetic diagnostics (PGD) procedure. The authors substantiate the conclusion that the requirements and principles formulated in these instruments can be successfully used for the development and improvement of the national legal framework aimed at regulating the PGA. The main directions of such use are defined. First, it is necessary to consider the existence of genetic predisposition to a particular disease or chromosomal disorder (the medical purpose) and provide a qualified consultation of a genetic scientist concerning the mechanism and consequences of diagnostics. Secondly, the legal regulation of genetic information obtained through the PGA requires an independent normative framework: determining the framework the law-maker must be guided by the fact that any intervention in the human genome aimed at modifying it may be carried out only for preventive, diagnostic or therapeutic purposes. In this regard, it is important to prohibit the PGA for social purposes (selection of embryo according to specific characteristics, establishment of compatibility between a donor and a recipient, looking beyond the prohibition to choose the embryo gender that is currently imposed under Russian legislation). Third, a separate regulatory framework is needed to resolve the problem of informing the patient about the results of examination: in addition to the right to be informed of the results of examination, it is also necessary to recognize the individual’s «right not to know,» particularly relevant to predictive genetic research.

scholarly journals Unique Combination of Diamond–Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report

2021 ◽  
Vol 11 ◽  
Author(s):  
Aleksey S. Tsukanov ◽  
Dmitriy Y. Pikunov ◽  
Vitaly P. Shubin ◽  
Aleksey A. Barinov ◽  
Vladimir N. Kashnikov ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Complete Sequence ◽  
Hereditary Diseases ◽  
Malignant Neoplasms ◽  
Chromosome 15 ◽  
Old Russian ◽  
Diamond Blackfan Anemia ◽  
Russian Patient

We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond–Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a new deletion of the chromosome 15’s locus with the capture of 82,662,932–84,816,747 bp interval, including the complete sequence of the RPS17 gene. The lack of expediency of studying microsatellite instability in endometrial tumors using standard mononucleotide markers NR21, NR24, NR27, BAT25, BAT26 was demonstrated. The estimated prevalence of patients with combination of Diamond–Blackfan anemia and Lynch syndrome in the world is one per 480 million people.

scholarly journals LEGAL PROBLEMS OF APPLYING MODERN METHODS FOR PRENATAL GENETIC DIAGNOSTICS IN RUSSIA

2021 ◽  
Vol 17 (2(64)) ◽  
pp. 52-64
Author(s):  
Рита Игоревна ХУСАИНОВА ◽  
Евгения Викторовна АХТЯМОВА ◽  
Илдар Рамилевич МИННИАХМЕТОВ ◽  
Эльвира Махаматовна АЛСЫНБАЕВА
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Legal Regulation ◽  
Genetic Diagnostics ◽  
Dialectical Logic ◽  
Legal Norms ◽  
Non Invasive ◽  
Legal Problems ◽  
Using Data ◽  
Diagnostic Technologies

The paper analyzes current ethical and legal problems related to prenatal genetic diagnostics, which is an important part of Russia’s strategy of transition to personalized medicine. Particular attention is paid to the problems of the effectiveness of prenatal diagnostics and legal regulation of the use of modern genetic technologies for non-invasive diagnosis of genetic and chromosomal abnormalities in the fetus. The legal mechanisms for using data on genetic disorders in the fetus and gaps in legislation are considered. Purpose: to analyze the legal regulation of issues of prenatal genetic diagnostics in Russia and its modern non-invasive methods, to identify urgent problems of their application and to determine possible ways to solve them. Methods: the authors use empirical methods of comparison, description, interpretation; theoretical methods of formal and dialectical logic; as well as special scientific methods of interpretation of legal norms and legal-dogmatic. Results: it is concluded that the national regulatory framework needs to improve the legal regime for DNA testing. The need to introduce non-invasive diagnostic technologies into the practice of medical genetic counselling for the general population as the safest and most progressive method of genetic diagnostics is identified.

scholarly journals Institution of Legal Support for the Turnover of Genetic Information: Paradigm of the Future of Information Law

Lex Russica ◽  
2021 ◽  
pp. 92-101
Author(s):  
I. M. Rassolov ◽  
S. G. Chubukova
Keyword(s):  
Genetic Information ◽  
Scientific Community ◽  
Information Technologies ◽  
Genetic Research ◽  
Codes Of Conduct ◽  
Legal Regulation ◽  
Dialectical Logic ◽  
Legal Norms ◽  
Digital Identification ◽  
Information Law

The increased scale of genetic research in the world determines the relevance of legal regulation of relations on the turnover of genetic information. The purpose of this study is to define a new legal institution for the circulation of genetic information and the main directions of development of future legislation. The methodological basis of the study comprises empirical methods of comparison, description, interpretation; theoretical methods of formal and dialectical logic; private scientific methods: the method of comparative jurisprudence and the method of interpretation of legal norms. The results of the study allow the authors to state that there is a process of separation of the still few legal norms on the turnover of genetic information into a separate institution in the system of the information law branch.The developing institute should include norms (principles) of turnover and processing of genetic information. These are norms that consolidate the rights and obligations of subjects of information legal relations regarding the turnover of genetic information; norms that establish the legal regime of biological banks and national databases of genetic information; protective norms for state supervision of the activities of subjects in the field of turnover of genetic information; special norms on liability for violations of the requirements of the law.The most effective solution to the problem of legal regulation of relations on the turnover of genetic information in the Russian Federation is the adoption of a special law.The information activities of various entities in this area are often international in nature and are based on the norms established in treaties and national legislation. In this regard, it seems appropriate to launch a broad discussion of the problems of genetic information turnover at the level of the international scientific community. These should include identification of threats; identification of possible risks of using information technologies in medicine; unification of digital identification mechanisms; development of ethical codes of conduct for the scientific community; use of foresight methodology in order to develop common positions.

scholarly journals Conducting forensic and genetic examination in civil judiciary as an object of constitutional protection

2021 ◽  
pp. 113-118
Author(s):  
V.M. Shkabaro ◽  
A.V. Bila
Keyword(s):  
Molecular Genetic ◽  
Evidence Base ◽  
Legal Regulation ◽  
Hereditary Diseases ◽  
Legal Basis ◽  
Case File ◽  
Constitutional Protection ◽  
Civil Proceedings ◽  
Genetic Examination ◽  
Forensic Genetic

The article is devoted to the study of forensic genetic examination in civil proceedings as an object of constitutional protection, due to the emergence of the concept of forensic examination in general and forensic genetic examination, entities entitled to conduct forensic examinations, analyzing the legal basis of court - genetic examination in Ukraine. Characteristics of the legal basis for recognition of paternity/mother and establishing the fact of paternity/mother are presented. The admissible and appropriate evidence bases in such cases and the place of forensic genetic examination in in the system of evidence that can be involved in the case have been clarified. The features of this examination have been studied, basis to proceed with the molecular genetic examination, the grounds for conducting a molecular genetic examination have been determined, and the issues raised before the expert carrying out the expert research have been singled out. The analysis of judicial practice of consideration of cases on recognition of paternity/maternity and the establishment of the fact of paternity/maternity which is carried out with carrying out forensic genetic examination was carried out. The article analyzes the problematic issues that arise in the process of legal regulation of forensic genetic examination and the practice of applying legislation in this area. The problems of evasion of a party from participation in forensic genetic examination, namely, non-appearance at a certain time to participate in the examination, failure to provide materials for expert research and the legal consequences of such evasion for all participants in the case. This article offers ways to solve problematic aspects of the research. The conclusions on the application by the courts of the results of forensic genetic examination during the consideration of cases on recognition of paternity/maternity, establishment of the fact of paternity/maternity were generalized and made. Forensic genetic examination is an individual identify. This type of examination allows not only to categorically exclude paternity, but also to carry out the origin of the child from both parents due to blood relationship (identification), as well as the diagnosis of hereditary diseases in the fetus in the early stages of pregnancy. Conducting such an examination is an effective mechanism of constitutional protection, because the facts established as a result of the examination form the basis of the evidence base are considered in conjunction with other evidence available in the case file.

LEGAL AND ETHICAL ASPECTS OF BIOMEDICAL TECHNOLOGIES DEVELOPMENT AND THEIR IMPACT ON A HUMAN BODY

2017 ◽  
Author(s):  
Anna Koval ◽  
Keyword(s):  
Organ Donation ◽  
Medical Practice ◽  
Human Body ◽  
Rapid Development ◽  
Legal Regulation ◽  
Biomedical Ethics ◽  
Health Protection ◽  
Hereditary Diseases ◽  
Social Regulation ◽  
Biomedical Technologies

he end of the twentieth century and the beginning of the twentyfirst century has begun the rapid development of scientific researches in the biological and medical fields. This process is associated with using of fundamentally new methods, which are primarily aimed at the disease prevention, as well as the introduction into the treatment of human diseases with the latest scientific and innovative technologies, methods and techniques of their application. These opportunities in the development of scientific technologies in the field of biology and medicine have led to the emergence of such a direction of scientific activity as "biotechnology". The proposed article notes that using of biomedical technologies has caused a number of new problems in the field of law and ethics. Legal arrangement in the field of the health protection have become much more complicated. Thanks to new opportunities, today these relations regulate rights and responsibilities of a fairly large number of people. Modern relations in the field of medical services and medical care lead to the emergence of new approaches to their regulation by both legal and ethical norms. In the past, relations in the field of the health protection were usually between two subjects, a doctor and a healthcare consumer. Nowadays, in a medical practice, relations in the field of the health protection involve: a health-care consumer, his family members (e.g., in the case of hereditary diseases diagnosis, blood and organ donation etc.) and third parties (e.g., organ donation, reproductive cell donation, surrogacy etc.). In the general doctrinal concept, biotechnology is the industrial use of living organisms or their parts (microorganisms, fungi, algae, plant and animal cells, cellular organs, enzymes etc.) for product producing or modifying, improving plants and animals, and in medical practice - in relation of the individual human organs (or body as a whole) functioning. These circumstances require improving the legal regulation of modern medicine public relations, bringing them into line with emerging realities. Moreover, the specifics of relations in this field determines the specifics of their legal regulation. The application of new medical technologiesin relation to human treatment has given rise to a significant number of moral and ethical problems that could not be solved within the framework of medical ethics and deontology alone. In connection with this, the way out of the current situation could be the consolidation of bioethics as an interdisciplinary field of knowledge, as a science, which makes it possible to explain moral, ethical and legal aspects of the medicine. This, for example, determines the allocation of medical law in an independent branch of law in some Western countries and Ukraine. The article focuses on biomedical ethics, which is a component of the medical activities system regulation. In the context of considering the levels of social regulation of medical activities, bioethics (biomedical ethics) is an interdisciplinary science that studies moral and ethical, social and legal problems of medical activities in the context of human rights protection. Bioethics should create a set of moral principles, norms and rules that are binding on all mankind and delineate the limits of scientific interference in the nature of the human body, the transition through which is unacceptable.

Legal restrictions on pre-implantation genetic diagnostics in the framework of in vitro fertilization procedure: foreign experience and Russian perspective

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all
Keyword(s):  
In Vitro Fertilization ◽  
Assisted Reproductive Technologies ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Genetic Diagnostics ◽  
Vitro Fertilization ◽  
Medical Indications

The article discusses the factors that determine the content of the legal limitations of pre-implantation genetic diagnosis in the framework of the in vitro fertilization procedure, taking into account international experience and modern domestic regulatory legal regulation of the field of assisted reproductive technologies. The authors substantiates the conclusion that it is necessary to legislate a list of medical indications for preimplantation genetic diagnosis, as well as the categories of hereditary or other genetic diseases diagnosed in the framework of this procedure.

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