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.

Formation of the concept of legal regulation of preimplantation genetic diagnosis in the Russian Federation in the context of ensuring and protecting reproductive freedom of the individual

2020 ◽  
Author(s):  
V.V. Komarova , N.A. Altinnik , G.N. Suvorov
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Russian Federation ◽  
Assisted Reproductive Technologies ◽  
Medical Science ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Reproductive Freedom ◽  
The Russian Federation ◽  
The Individual

Objectives. The aim of this study is the formation of a concept of preimplantation genetic diagnosis (PGD) in the Russian Federation in the context of ensuring and protecting reproductive freedom of the individual. Material. The regulatory legal acts, the doctrinal sources of the Russian Federation are examined to identify key problems that impede the formation of the desired concept. Methods used: general philosophical, general scientific, private scientific, special (structural-legal, formal-legal). Results. The basic postulates of the concept of legal regulation of PGD in the Russian Federation are substantiated. As part of the analysis of domestic legislation, key problems are identified that impede the formation of the desired concept that meets the level of development of medical science and the needs of consumers of medical services. The conclusion is justified that it is necessary to fix at the legislative level the place of pre-plantation genetic tests in the assisted reproductive technologies system, thus giving PGD independent significance outside the context of the problems of infertility treatment. It has been argued that, in addition to the norms of the basic law on protecting the health of citizens, a separate sub-legislative normative legal act of the Ministry of Health of the Russian Federation should be developed in the system of legal regulation of PGD in Russia, forming a set of mandatory requirements for the PGD procedure, depending on diagnostic goals, as well as determining which methods are preferable depending on the goal and what results the consumer can count on. Conclusions. It is noted that in the system of norms on genetic research, special attention should be paid to genetic counseling, establishing mandatory requirements for the content of the consultation - in relation to PGD, this should include explanations regarding the algorithm and method of the study, the possibilities and limitations of this type of diagnosis for each a particular case, the features of its application to solve a single genetic problem.

General principles of regulation of pre-implantation genetic diagnosis: the definition of Russian prospects taking into account foreign experience

2019 ◽  
Author(s):  
N.A. Altinnik , V.V. Komarova , M.A. Borodina et all
Keyword(s):  
Assisted Reproductive Technologies ◽  
Genetic Diagnosis ◽  
Professional Community ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Basic Principles ◽  
Reproductive Freedom ◽  
Domestic Legislation ◽  
The Russian Federation ◽  
Definition Of

The article is devoted to the problem of determining the basic principles of the legal regulation of preimplantation genetic diagnosis (PGD) in the Russian Federation, taking into account existing international experience. It is substantiated that the development of national legislation in this area should include the legal definition of PGD as one of the stages of using assisted reproductive technologies, as well as the establishment of generally binding requirements for the procedure, conditions and features of the diagnosis, taking into account the need to minimize the damage caused to the embryo. A comprehensive model for the development of domestic legislation and law enforcement is proposed, the content of which includes state guarantees and restrictions harmoniously complemented by ethical requirements developed by the professional community of specialists in genetics, extending the content of the process of genetic counseling for PGD, interpretation of research results and ensuring compliance with the principle of reproductive freedom in deciding on the results of diagnosis.

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.

scholarly journals Reproductive health and human rights: concept, features and classification

2020 ◽  
Vol 9 (29) ◽  
pp. 550-557
Author(s):  
Oleksandr Shevchuk ◽  
Volodymyr Harashchuk ◽  
Igor Protsiuk ◽  
Sergii Mokhonchuk ◽  
Kseniia Naumova
Keyword(s):  
Human Rights ◽  
Reproductive Health ◽  
Assisted Reproductive Technologies ◽  
Reproductive Rights ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Health Protection ◽  
Synthesis Methods ◽  
Health And Human Rights ◽  
Legal Norms

The article explores the features of reproductive health legal regulation in Ukraine. The concept of “reproductive rights” is proposed, their basic principles are revealed, elements of the system of such human rights and criteria for their classification are introduced. Legal norms don`t fully provide opportunities for individuals` reproductive rights realization and preservation of their reproductive health. The purpose of the article is to disclose the features of legal regulation of reproductive rights implementation when studying the concepts of “health and human rights” and “the concept of reproductive rights”. The methodology of this research is based on use of general scientific and special cognitical methods. Comparative legal and comparative methods have allowed studying of laws governing the human right to access “assisted reproductive technologies”. The formal logical method was used to differentiate the criteria for distinguishing between legal structures “reproductive health”, “protection of reproductive health” and “reproductive rights”. The modeling, analysis and synthesis methods made it possible to identify the legal basis for human rights protection in reproductive health field, the principles for reproductive rights implementation, the reproductive rights system and their classification, and deficiencies in legal regulation. The results of this work allowed us to identify the legal problems of legislation that arise in the reproductive human rights implementation. It was proposed the adoption of a single legislative act in Ukraine, which would comprehensively regulate the reproductive health protection, consolidate reproductive human rights and provide guarantees for their implementation.

scholarly journals FEATURES OF LEGAL REGULATION OF GENOMIC RESEARCHES: FAILURES, SECURITY CONCERNS AND PROSPECTS

2020 ◽  
Vol 30 (1) ◽  
pp. 145-152
Author(s):  
A.A. Mokhov ◽  
A.N. Yavorsky ◽  
A.R. Pozdeev
Keyword(s):  
Russian Federation ◽  
Assisted Reproductive Technologies ◽  
Genetic Diseases ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Poor Quality ◽  
Federal Law ◽  
The Russian Federation ◽  
Public Health Protection ◽  
Genetic Consultation

The urgency of the article is determined by the need to ensure biological and ecological safety of Russia. The article gives examples of failures of auxiliary reproductive technologies in the Russian Federation and abroad which at present do not have adequate algorithms of legal resolution and are unsafe for ecology and man. Investigating the existing Russian legislation it has been revealed that passing only of obligatory medico-genetic consultation and incomplete medico-genetic inspection with approximate assessment of the genetic status of the donor does not exclude development of the fetus with severe genetic diseases, which is considered by the consumer of the service as poor quality and unsafe. It is noted that in cases of use of biomaterials from abroad, a comparative study of the genome becomes unlikely due to paragraph 7 of Art. 55 of the Federal Law of 21.11.2011 № 323-FZ "On the fundamentals of public health protection in the Russian Federation" and the order of the Ministry of Health of Russia from 30.08.2012. (ed. 01.02.2018) № 107n "On the order of using assisted reproductive technologies, contraindications and restrictions on their use". The conclusion was drawn on the need to develop and fix organizational and legal mechanisms and develop appropriate procedures.

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 Principles of Correlation Between Self-Regulation and State Legal Regulation of the Relations Related to Genetic Research: Modern Prospects

2019 ◽  
Vol 8 (2) ◽  
pp. 3850-3855
Keyword(s):  
Legal Status ◽  
Assisted Reproductive Technologies ◽  
Self Regulation ◽  
Genomic Medicine ◽  
Genetic Research ◽  
Professional Associations ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
State Regulation ◽  
National Standards

The principles of correlation between self-regulation and state legal regulation of the relations related to genetic research have been discussed in this article. Today the development of genetics and applied genomic medicine has a direct effect on legal relations on protecting the rights and legal interests of an individual. The main goal of the study is to research regulatory legal acts, judicial practice, and doctrinal sources aimed at determining the optimal correlation of the beginnings of self-regulation and state legal regulation of relations related to genetic research. When writing the article, the methods of collecting and studying singularities, the generalization methods, the scientific abstraction methods, as well as the method of inquiry into regularities have been used. This study is characterized by using the experience of foreign self-regulatory organizations and professional associations involved in genetics. In their study, for the first time, the authors have substantiated the conclusion that the model of the optimal correlation of state regulation and self-regulation of legal relations related to genetic research is based on the following principles: 1) informed consent for genetic research and protection of the confidentiality of the obtained information, 2) participation of self-regulating associations of medical geneticists in developing national standards for the quality of medical services in genetic research, as well as the requirements for medical organizations and medical employees who provide them, and 3) legalization of the legal status of a person providing counseling services in genetic research and in associated areas related to defining a strategy for the treatment of genetically determined diseases and the use of assisted reproductive technologies (genetic counselors). In the article it has also been stated that it is necessary to define the legal mode of protecting the information obtained during the genetic research depending on classifying such research as a certain specific category – diagnostic, pre-symptom or prognostic (carried out to assess the vulnerability of an individual to a specific disease). Third parties can only access the results of diagnostic genetic research.

Thickness of endometrium: predictor of the effectiveness of IVF/ICSI programs (literature review)

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (1) ◽  
pp. 113-116
Author(s):  
L A Bagdasaryan ◽  
I E Korneyeva
Keyword(s):  
Assisted Reproductive Technologies ◽  
Endometrial Thickness ◽  
Molecular Genetic ◽  
Uterine Cavity ◽  
Reproductive Technologies ◽  
Genetic Characteristics ◽  
Vitro Fertilization ◽  
Need To Evaluate ◽  
The Relationship

The aim of the study is to systematically analyze the data available in the modern literature on the relationship between endometrial thickness and the frequency of pregnancy in the program of assisted reproductive technologies (ART). Materials and methods. The review includes data from foreign and domestic articles found in PubMed on this topic. Results. The article presents data on the relationship between the thickness of the endometrium and the frequency of pregnancy in ART programs. The greatest number of studies is devoted to the evaluation of the relationship between the thickness of the endometrium and the frequency of pregnancy on the day of the ovulation trigger. Data are presented on the existence of a correlation between the thickness of the endometrium measured on the day of the ovulation trigger and the frequency of clinical pregnancy, as well as data on the need to evaluate the structure of the endometrium and the state of subendometric blood flow. The importance of multilayered (three-layered) endometrium as a prognostic marker of success in in vitro fertilization/intracytoplasmic sperm injection programs in the ovum is emphasized. The conclusion. The thickness of the endometrium can not be used as an argument for canceling the cycle or abolishing embryo transfer to the uterine cavity. Further studies in this direction are needed with a study of the morphological and molecular genetic characteristics of the endometrium, which in the future will allow us to evaluate the relationship between the thickness of the endometrium and the probability of pregnancy.

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism

2020 ◽  
Vol 33 (6) ◽  
pp. 691-701 ◽  
Author(s):  
Tatsushi Tanaka ◽  
Kohei Aoyama ◽  
Atsushi Suzuki ◽  
Shinji Saitoh ◽  
Haruo Mizuno
Keyword(s):  
Congenital Hypothyroidism ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Japanese Patients ◽  
Thyroid Stimulating Hormone ◽  
Allelic Variant ◽  
Genetic Investigation ◽  
Pathogenic Variants ◽  
Recessive Genes ◽  
Molecular Genetic Diagnosis

AbstractObjectivesCongenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients. This study aimed to perform clinical and genetic investigation in Japanese CH patients to uncover genotype-phenotype correlations.MethodsWe enrolled 136 Japanese patients with transient or permanent CH between April 2015 and March 2017, and performed next-generation sequencing of 19 genes implicated in CH.ResultsWe identified potentially pathogenic bi-allelic variants in DUOX2, TSHR, and TPO in 19, 5, and 1 patient, respectively (autosomal recessive), and a potentially pathogenic mono-allelic variant in NKX2-1 (autosomal dominant) in 1 patient. Molecular genetic diagnosis was highly suggested in 26 patients (19%) from 23 families. We also detected a potentially pathogenic mono-allelic variant in five recessive genes (DUOX2, TSHR, TG, DUOXA2, and TPO) in 31 unrelated patients (23%), although the pathogenicity of these variants remains inconclusive. Patients with bi-allelic DUOX2 variants showed a more severe clinical presentation in infancy than those with bi-allelic TSHR variants. However, this trend reversed beyond infancy. There were no statistical differences in initial thyroid stimulating hormone, free thyroxine, thyroglobulin, and levothyroxine dose as of March 2017 between patients with bi-allelic and mono-allelic DUOX2 variants.ConclusionsThe prevalence of potentially-pathogenic variants in Japanese CH patients was similar to that found by previous reports. Our study demonstrates a genotype-phenotype correlation in Japanese CH patients.

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