Self-Regulation of genetic studies in Russia: search for the optimal model

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Introduction In the modern world such issues as progressive development of protective instruments for human rights and personal data, international cooperation in the field of living organism’s genomics connected with revolutionary inventions in genomic projects, colossal promotion of IT in the field of bioinformatics, genomic medicine and other sciences concerning health and genomic technologies of animal and plant selection gain relevance (Yankovskiy & Borinskaya, 2003:46-49). The accumulation and exchange of genomic data is expanding exponentially, while the genomic biomedical technologies and genomic research results are being widely applied in the socially significant spheres. At the same time this field features several legal risks of abuse and possible violations of civil, social, and public interests (Montgomery, 2018). The state should create the necessary conditions to ensure that the genetic information gathered in the process of relevant genetic research is protected against any illegal tampering, while the legal status of genetic research participants is legitimately established and corresponds to widely recognized international standards and advanced practices of foreign states (Branum & Wolf, 2015; Isasi, Kleiderman & Knopper, 2016). It is worth mentioning that according to the current laws, all professional selfregulative organizations are bound to protect public interests by determining basic rules for professional activities. Thus, they define criteria for registration and certification, provide special guides in the form of ethics codes, professional conduct codes and practical standards, maintain an open register of specialists, deal with complaints about actions of organization members and apply relevant disciplinary sanctions. Conventional professional associations are not authorized to develop and apply obligatory requirements. According to some authors, efficiency and resilience of self-regulation processes in terms of genomic research are ensured at three levels: international selfregulation level, interdisciplinary self-regulation level, and the level involving solution of particular issues or matters within the specialist community (Varlen at al., 2019:11-17). At the same time, the lack of well-elaborated, comprehensive, and approved by the Russian genetic (biological) science rules and standards of conducting genetic research (including the rules for handling gained genomic information and using research results), demonstrates professional disunity of specialists (research centers) performing genomic research, which ultimately hinders development of uniform legal and ethical requirements. The most disputed topic, being heavily criticized in science, is the acceptable conduct rules for a specialist (scientist) performing genetic research from the viewpoint of professional ethics (Nanba et al., 2020). Thereupon the ethic requirements should be elaborated not only by professional associations of genetic specialists, but also by sectorial medical associations in general. This complex and multifaceted issue under study should involve current international experience based on the provisions of relevant international agreements, concluded between international organizations (Lévesque, Joly & Simard, 2011; Lin, Owen & Altman, 2004). The situation which has emerged in Russia in the field of genomic studies, including the legal regulation of relevant activities, shows several tendencies, among which we should note remarkable deceleration of Russia in comparison with the leading foreign states (Mashkova, Shirokov, 2020). Thus, Section I - The Status of Genetic Technological Development in the Russian Federation of the Russian Government Regulation No 479 of April 22, 2019 On the Approval of the Federal Scientific and Technical Development Program for Genetic Research 2019-2027 - officially states that “the share of Russia in the general volume of worldwide genetic technology market is critically low. Russian achievements and studies in the field of genetic technologies will not allow reaching large amounts of commercially successful results, so the necessary products are being imported. Therefore, the share of Russian import of amino acids (tryptophan, threonine, and valine) used for agricultural animal feed reaches 100 percent, ferments - over 70 percent”. At the same time, we should note the urge of the Russian government to regulate those social relationships and stimulate genetic studies overall. However, at the moment, there is still no legal certainty in matters of legal regulation concerning nature, methods, and standards for conducting genetic and genomic research, prevention and elimination of genetic discrimination, as well as maintaining an optimal balance between privacy of personal data and possibilities of so-called open science (Lapaeva, 2020). Therefore, lack of full-fledged legal regulation of genetic research in the Russian Federation attaches greater relevance to the self-regulating norms of organizations, performing genetic research in the Russian Federation. Their analysis would allow better understanding of the general stance of self-regulation in this field along with determining the vectors for achieving the optimal model of self-regulation for those organizations. Self-Regulation of genetic research in Russian public research institutions Among public research institutions we should mention the following ones: The Federal Public Budget Research Institution Medical Genetic Research Facility (MGRF), The Federal Public Budget Research Institution called The Vavilov Institute of General Genetics of the Russian Academy of Sciences (IGG), and The Federal Public Budget Research Institution called The Federal Research Facility - the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences (ICG). Several core regulations of the mentioned organizations have been analyzed by the authors. It should be noted that all the aforementioned organizations are federal public budget research institutions, which implies their subordination in relation to the concerned federal public authority - the Ministry of Science and Higher Education of the Russian Federation. That Ministry adopted their charters. The charters also provide for the status of the Ministry of Science and Higher Education as a founder of concerned research institutions by vesting it with the relevant powers and functions (despite the fact that some of them are directly subordinate to the Russian Academy of Sciences). Thus, the Charter of the IGG No 187 of July 6, 2018 states that the founder and the owner of all property of the Institute is the Russian Federation, while the functions and powers of the owner of the property entrusted to the Institute are performed by the Ministry of Science and Higher Education of the Russian Federation and the Federal Agency for Managing Public Property in the manner, established by the Russian legislation and in accordance with the Charter. The Charter of the MGRF No 80 of July 6, 2018 stipulates that the institution fulfils state assignments, formed and approved by the Ministry of Science and Higher Education of the Russian Federation taking into account the RAS recommendations and, in accordance with main activities, established by the mentioned Charter. At the same time, the MGRF may not deny state assignments. In order to perform its tasks, the MGRF, on its own behalf, may acquire and implement civil rights, carry civil obligations, sue and be sued in any court and independently, in the prescribed manner, form its own structure, including departments to perform medical and genetic research (medical genetic facility). The goals and subject of the MGRF activities include pursuing fundamental, exploratory and applied (including clinical) research aimed at gaining new knowledge in the field of medical genetics, providing first aid to individuals, and training highskilled medical and research personnel. The MGRF engages in the following basic activities: - To conduct fundamental, exploratory and applied research in the following directions: examining the structure, functions and variety of human genome and other human genetic materials in normal conditions, in pathological or other negative external conditions; modelling genetic processes and inherited diseases of human beings and animals, in cell colonies and by methods of bio-informatics; examining the spread, ethology and pathogenesis of inherited diseases; developing new means and methods of diagnostics, prevention and treatment of genetic pathology; developing methods (approaches) for improving efficiency of medical genetic consulting; improving administration of medical genetic assistance to Russian citizens. - To perform research projects, funded by research grant foundations or similar organizations including international. - To participate in coordinating activities in the field of medical genetics, including fundamental, exploratory and applied studies. - To participate in federal, regional, sectorial and interdisciplinary programs and projects as well as in research forecasting and expert examination of scientific research. - To participate in medical activities, to provide specialized first aid to individuals and first aid, not included in the basic compulsory health insurance program. - To promote scientific achievements and knowledge on inherited diseases among medical personnel and general public. - To perform activities in the field of ionizing (generating) radiation sources for the research needs; to use and store such sources. The MGRF may also perform other, secondary activities: 1) To provide organizational, methodical, research, expert and consulting assistance for organizations within the MGRF profile. 2) To test new diagnostic and treatment methods. 3) To test medical devices. 4) To organize and conduct telemedical consultations and additional professional training by means of MGRF telecom systems. 5) To prepare standards, protocols, algorithms, and clinical recommendations on the relevant genetic medical issues. 6) To produce diagnostic systems. 7) To collect and scavenge the waste and scrap of precious metals and silver-containing components after the use of motion picture X-ray materials. 8) To conduct activities connected with legal protection and use of intellectual activity results of the MGRF according to the Russian legislation. 9) To lease temporary unused property, including real estate. 10) To use the exclusive rights of the MGRF to the results of intellectual activities and dispose of them in accordance with the Russian legislation. It should be noted that the MGRF in contrast to other research institutions of a similar activity profile has approved and placed in open access a number of documents on the activities of the ethics committee, use of confidential information and procedure of handling public petitions. Thus, MGRF Order No 2/16 of January 11, 2016 has established the standard operating procedures (SOP) of the local ethics committee in accordance with legislative requirements in order to perform independent expert examination, provide consultations and make decisions on the biomedical research ethics, implying human or animal participation. Apart from that on August 28, 2017 the MGRF approved the Regulation on Confidential Information in conducting clinical studies of medicinal drugs, which generally regulates the procedure for handling various confidential data types (professional secrecy, commercial secrecy, medical privacy, sensitive information constituting State secrets) in order to ensure the MGRF economic and legal security in performing clinical studies of medicinal drugs. The IGG Charter states that the Institute conducts fundamental, exploratory and applied research and design studies in a variety of areas: general, molecular and evolutionary genetics, human, plant and microorganisms genomics, structural and functional genome organization, mechanisms for gene regulation and expression, comparative genomics, system biology, genetic security, genetic passportization and DNA identification, genetics of agricultural animals and plants, gene pools, human genomic geography in Russia and worldwide, etc. It is also noted that the research activities of the IGG are connected with highly sensitive information. The ICG Charter No 414 of July 26, 2018 generally provides for similar matters, mentioned above, which demonstrates a uniform approach to the composition of establishing documents of such public research institutions. We should also note the Ethics and Professional Conduct Code of the ICG workers, adopted on September 12, 2017. That Code represents a compilation of general professional ethical principles and rules of conduct, which all the ICG staff should adhere to, independently of their position. In the process of concluding a labor agreement the candidates shall study the Code provisions and follow them in the future. The main purpose of the Code is to generalize ethical standards and establish rules of professional conduct for the ICG staff to ensure their effective performance as well as strengthen the ICG authority and/or business reputation. The ICG Ethics and Professional Conduct Code is aimed at improving staff efficiency, thus the Code: 1) serves as a basis for consistent development of corporative culture and formation of strong work ethics, 2) serves as an institute of public conscience and dignity of the ICG workers as well as creates atmosphere of trust and mutual respect, 3) prevents corruption and contributes to removing reasons for corruption and conflicts of interest. It also establishes that knowledge and commitment to the rules of ethics and professional conduct code of the ICG staff is one of the criteria for assessing their professional activities and performance. According to the Code the staff shall: a) perform their duties within the powers, determined by the job description, fairly and professionally, in order to secure the ICG effectiveness, b) follow the norms of professional ethics, c) provide assistance to colleagues in order to reach higher results and share experience, d) manage entrusted resources effectively and handle the assigned property with care, e) refrain from activities, which pursue private interests and hinder proper execution of professional duties, f) inform the ICG management, the prosecutor’s office and other relevant public authorities about all cases of corruption and engagement in corrupt schemes, g) demonstrate professional independence, excluding all possible external influence, including from political parties, public associations, etc., h) pay attention, show respect, and follow etiquette in all professional communications, i) refrain from behavior which may question the proper execution of professional duties, avoid conflicts which may jeopardize the ICG reputation and/or authority, j) not receive rewards for their professional performance from individuals or legal entities (including fees, loans, services, entertainment, recreation, transport expenses reimbursement, and other rewards), k) take all necessary measures, provided by the Russian legislation and prevent conflicts of interest and mitigation thereof, l) comply with the established rules of public speaking and provision of professional information according to the ICG regulations and relevant legal norms of the Russian Federation. For not compliance with the provisions of the ICG Code an employee bears moral responsibility to their employer and colleagues as well as other responsibilities in accordance with the legislation of the Russian Federation. Compliance with the ICG Ethics and Professional Conduct Code is taken into account during attestation, building a talent pool for promotion to higher positions, deciding on incentives and also when imposing disciplinary sanctions. Moreover, the ICG has adopted the Development Program for 2016-2020 of strategic nature that provides for a well-detailed plan to achieve the established goals. Objectives of the Development Program include acquiring new fundamental knowledge in the field of general and molecular genetics, developing new genetic, cellular and bioinformation technologies to satisfy the needs of biomedicine, agriculture, and biotechnological industry of the Russian Federation. Thus, the charters of the mentioned public research institutions contain no provisions, which would directly regulate rights, obligations, liability and guarantees of the participants of genetic research. The charters regulate the most general matters of organizational, legal and financial nature. At the same time, they provide for the main activity vectors of genetic studies as well as main responsibilities to superior federal authorities. All the mentioned research institutions have ethical committees, but only the ICG has developed the code of ethics. We can only find the most general information on such committees in the open access. Despite the fact that several famous federal public budget research institutions have been working for a long time in Russia (the MGRF, the IGG, the ICG and others) there is no publicly available information concerning their cooperation (excluding joint research projects and participation in scientific events) in the field of development and adoption of ethically oriented documents of genomic research, strategic instruments, etc. All the public research institutions, examined above, should in the course of their activities undertake public assignments as they are funded from the Russian federal state budget; they should also conduct works, which may be connected with national security secrecy. Therefore, the activities of the relevant research institutions are closely connected with and are greatly directed at implementing state policy in the field of biomedical research, including genetic studies. Only the ICG has adopted and placed their development program 2016-2020 on the official website. Other mentioned institutions still have such opportunity; moreover, they may have developed and adopted similar programs but, apparently, they have limited access status, since they can be associated with professional secrecy and national security. Self-Regulation of genetic research in Russian non-public organizations The mapping of the human genome provides for new wide prospects of using the gathered information in medicine. Commercial medical facilities are increasingly offering services of genetic research and personal genomic testing in recent years (Mashkova, Varlen & Shirokov, 2020:56). The constant drop of prices on such services attracts more customers interested in using test results for a wide scope of purposes. It is evident that genetic research and personal genomic testing, provided by commercial medical companies gain more popularity (Munnich, 2019:409-410; Knoppers, 2014). The results of genetic studies may generally be used for the following purposes: for revealing disease-disposing genes, conducting relevant risk assessment, forecasting future treatment or preventive care. They are also critical in family planning and application of reproductive health technologies, complex risk assessment in voluntary personal insurance schemes or employment risk assessment as well as in further research. Such services are also becoming more affordable for general public. At the same time, they allow accumulating a vast mass of genetic data at private institutions, which jeopardizes information safety and crates a menace for information leakage (Rothstein, Knoppers & Harrell, 2016). All those pose questions concerning the legal regime of such information, the degrees of self-regulation and state interference in the processes of providing medical services in the field of genetics in order to secure the rights and legitimate interests of citizens (Thorogood, Dalpé & Knoppers, 2019). In this context it is worth mentioning the endeavor of S.S. Zenin to formulate three basic principles of building a model of optimal balance between state regulation and self-regulation of relationships in the field of performing genetic studies: the informed consent to undergo genetic testing, participation of self-regulatory associations of medical genetics in the development of the national standards on the quality of medical services, legal status of a genetic consultant (Zenin, 2020:8). Supposedly it is not about principles (basic onset and formulation), but about certain rules of conduct, rather significant in their essence, though not covering all the aspects of social relationships under consideration. Other issues also demand consideration; among them are the role of genetic (not only medical) organizations in developing and applying self-regulation, admissibility, and procedure for sharing genomic information with the third parties including enforcement agencies, matters of legal status of patients, genetic material donors, and their genetic relatives, etc. It is worth noting that in current situation a patient should actively participate in monitoring their own health and selecting an optimal treatment scheme by using the latest genetic science achievements (Nazarov & Sisigina, 2018). At the same time, they should make well-elaborated decisions concerning gene therapy and/or genetic testing and realize their personal responsibility for decisions made. This should apparently be supplemented with necessary medical consultations (by scientists or researchers) and patient’s ability to gather all the relevant information from open sources. In this case the patient’s informed consent to medical procedures and genomic research will signal a desired result (Blassime et al., 2017). In Russia, several private companies (usually limited liability companies - LLC) are performing genetic research (specifically genomic testing). Those companies claim on their official websites that genetic tests allow mapping human genome, learning about ancestors, getting advice on sports activities, acquiring recommendations on losing weight or nutrition as well as alerting susceptibility to certain diseases. At the same time there is no legal regulation or self-regulation upon handling of such information, i.e., ethical codes or other instruments including open-access constitutional documents. This testifies to the great amount of discretion in the issues of administering genetic studies in general and little publicity in the activities of the mentioned companies in terms of self-regulation and development of ethical standards for conducting genetic research. Moreover, most often the ethical committees/commissions are non-existent, and nothing is mentioned about adherence to any developed ethical standards of international or European levels. Yet, this situation threats genetic information safety and may violate human rights by arbitrary editing human genome or leaking information to third parties without due consent. However, there are some exceptions. For example, Genotek provides for a confidentiality policy in handling personal data[93]. This company (established in 2010) is one of the first to perform genetic testing in Russia; it offers undergoing one of five thematic tests: Health and Longevity, Child Planning, Diet and Fitness, Talents and Sports, Genealogy. The main areas of its activities are similar to other private organizations, that provide similar services; they include: - genetic studies for research institutions, - DNA testing on the origin of a person (genetic genealogy), - DNA testing for inherited diseases, - DNA testing, revealing susceptibility to various diseases, - pregnancy planning genetic studies, - genetic research of human predispositions (sports, metabolism, etc.). Atlas biomedical holding offers testing on health, nutrition, sports, origin, and personal traits. Atlas is currently one of the most popular companies in Russia, conducting genetic tests. It is worth mentioning that Atlas is famous for providing precise rules of disclosing genomic information in its confidentiality policy, which is not very typical for most companies. Those rules include: 1) inadmissible use of personal raw data of patients for research or commercial purposes without prior and clear consent (raw personal data is the type of information about genetic data of a specific person), 2) In the absence of a statutory obligation to disclose or transmit such information, a guarantee of non-disclosure of personal data or individual raw data of a patient to third parties is presumed[94]. MyGenetics also offers DNA testing for providing recommendations over diet and fitness[95]. The company operations in the Technopark of the Novosibirsk Academgorodok. Diagnostic results are based on the data of the National Center of Biotechnology Information (USA), the European Research Consortium Food4Me, Stanford University and other global laboratories. DNA studies are performed at the Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Sciences. MyGenetics also provides for a confidentiality policy of general nature. We should also mention ZAO Genoanalitika, which is located in the Science Park of the Lomonosov Moscow State University and has acquired the status of the center for collective usage in the Skolkovo Technopark[96]. The company performs genetic testing as one of three research packages: monogenic diseases, two studies and a Complete Genetic Passport” of five studies, or for each of the areas separately. The main activity areas are the following: a) complex solutions in the field of genomic studies of any level of complexity for medical, research and agricultural purposes, b) specialized sequencing of all types of nucleic acids, c) genotyping and karyotyping on micromatrix, d) fast and highly accurate bioinformatics analysis of gathered data. The Genoanalitika website also states that this company was the first in Russia to develop mass genetic services, perinatal screening DOT-test, personal genetic research My Gene, and a modern system of genomic assessment of breeding value in animals. We should also note the activities of the Association of Medical Genetics (AMG), which is a professional association of medical geneticists and laboratory geneticists. AMG was created in order to represent and protect professional interests of medical-genetic community by consolidating, strengthening, and developing professional ties and humanitarian contacts between specialists engaged in medical genetics. Other purposes include coordinating professional activities of medical geneticists and laboratory geneticists as well as promoting medical education and continuous medical training of specialists[97]. AMG contributes to introduction of advanced experience and recent developments of world science and technologies into practical public health care, as well as promotes advanced diagnostic methods and treatment of inherited (orphan) diseases in Russia. AMG also disseminates relevant knowledge in the field of medical genetics among medical community and participates in organizing and holding scientific congresses, conferences, symposia, seminars, schools, and exhibitions. Over 300 specialists of the Russian medical genetic service are full members of the AMG including the main freelance specialists of the Russian Ministry of Health on medical genetics in federal districts and health departments of the Russian Federation constituent entities[98]. Since 2016, AMG has been implementing a joint project with the Federal State Budgetary Scientific Institution Research Center for Medical Genetics to create a unique database of patients with congenital and hereditary orphan diseases (Audit of Diagnostics and Medical Care for patients with inherited orphan diseases)[99]. The project has significant research perspectives and allows generalizing and studying the available data on the prevalence, diagnostic methods, and efficient treatment of severe hereditary (orphan) diseases, including phenyl ketonuria, mitral valve disease, acid maltase deficiency, Niemann-Pick C1 disease, diffuse angiokeratoma in the Russian regions. AMG is a member of the National Medical Chamber and participates in the preparation and discussion of draft laws in the field of public health care and draft clinical guidelines on hereditary (orphan) diseases in children and adults. It seems that organization and activities of the AMG largely correspond to the best practices of relevant foreign organizations (Mashkova, Varlen & Shirokov, 2020). Conclusion Currently, the Russian legislation and judicial practice do not directly provide the scope of human rights in the field of genomic studies and special legal guarantees are not enshrined. We can agree that in contrast to practice of the European Court for Human Rights, the relevant Russian judicial practice in the field of genomic studies and implementation of their results is a rather “boring landscape” of monotonous cases, generally encompassing matters of genetic identification in criminal and family procedures (Kalinichenko & Kosilkin, 2019:116). The cornerstone issue is establishing measures of responsibility for breaking laws (by illegal actions or inaction) in the sphere under consideration. At the same time, it is obvious that harm to the patient’s health in the process of conducting a genetic research in the event of negligence of a physician or scientist or medical personnel should imply their liability (Blinov, 2018). However, we should also take into account the complexity of genetic research and the situation itself in every specific case. No less urgent is the task of protecting information, gained in the course of genetic research. According to the current legal regulation, application of liability measures in this area is extremely problematic, as there are no specific rules restricting human genome editing, transmission of genomic data to third parties and so on. For example, administrative law only provides liability for violating rules in the field of GMO and GMO-products. It seems that the main rule for doctors, scientific researchers and medical personnel, engaged in genetic research, should be do no harm to the patient, observe their rights and legitimate interests. This rule should be facilitated by informing the patient about all possible risks of medical intervention (including genetic research). It is also important to establish the ethical boundaries of permissible behavior in the scientific expert community by developing the relevant documents through open scientific discussion. In this context it is worth mentioning that the regulatory potential of the acts of the Russian genetic research organizations is not yet fully realized, which fragmentizes legislative framework and law enforcement practice. At the same time in Russia as a whole, the institute of self-regulation in genetic research is poorly developed, which is confirmed by the analysis on the information concerning the activities of relevant organizations (private and public) available in the public domain (primarily, the internet). At the same time, the insufficient (fragmented) legal regulation and selfregulation of genetic studies lead to violations of patient’s rights and legitimate interests in terms of information confidentiality and genetic data security. Moreover, such situation may negatively affect the reputation of genetic research in society. The state therefore should within the framework of the set goals of intensive genetic technological development create all the necessary conditions (including of legal nature). At the same time reaching such a global aim is impossible without due legal regulation of the status of genetic research participants, and without securing genetic information about citizens. The state should ensure that the genetic information gathered from the relevant genetic research is protected against any illegal tampering, while the rights, obligations, guarantees and legitimate interests of genetic research participants are fairly established in order to comply with generally recognized international standards and best practices of foreign states. Summing up, we should note that in Russia the practice of self-regulation is being applied, though rather fragmentally, in many research institutions. We may notice the constant, yet slow, development of such regulation in Russian public research institutions. At the same time private genomic organizations generally evade significant regulation of their activities and thus do not provide for the rules or standards of their activities, limiting themselves to referential formulations, general provisions, which are not sufficient for the specifics of those activities. In this case we have to admit that private genomic organizations (operating on a commercial basis) only follow the norms of the Russian current legislation, which, as noted earlier, has significant gaps when it comes to regulation of genetic research procedures. Analysis of several websites of Russian private companies, providing genetic profiling services[100] allows to conclude that these organizations do not work on developing complex information guides (on their information portals) and standards of conducting genetic research in the intelligible format. Moreover, the open sources provide no information on the possible risks and threats to patients in connection with application of certain medical procedures, while the issue of patient’s genomic information transmission to third parties (e.g., enforcement agencies) is rarely commented on. We assume that one of the possible ways of solving the aforementioned issues is the development of the relevant legal regulation (including departmental acts[101]) and/or organization of special activities by the leading public research institutions (i.e., in the format of a separate council, commission or association[102]) on regulating various aspects of genetic research, which will be mandatory also for nongovernmental organizations, providing relevant services in the Russian territory.

About the authors

Emil V. Alimov

The Institute of Legislation and Comparative Law under the Government of the Russian Federation

Author for correspondence.
Email: emil.alimov@gmail.com

Candidate of Legal Sciences, Researcher of Department of Constitutional Law

34 B. Cheremushkinskaya str., Moscow, 117218, Russian Federation

Felix A. Leshchenkov

The Institute of Legislation and Comparative Law under the Government of the Russian Federation

Email: foreign2@izak.ru

Researcher of the Department of Constitutional, Administrative and Criminal Law and International Law

34 B. Cheremushkinskaya str., Moscow, 117218, Russian Federation

References