1 UNESCO THE UNIVERSAL DECLARATION ON BIOETHICS AND HUMAN RIGHTS

2 The Universal Declaration on Bioethics and Human RightsSetting the context The promotion of responsibility in: biomedical research clinical practice The Declaration was adopted on 19 October (33rd session of the General Conference of UN Education, Scientific and Cultural Organization – UNESCO) by representatives of 191 countries.

3 The Universal Declaration on Bioethics and Human RightsDocument elaboration process: The drafting of the UDBHR was based upon the experience of a group of experts from different countries who sat in the International Bioethics Committee (IBC) The drafting process was preceded by a report of an IBC working group that considered the feasibility of this instrument The Group was chaired by Prof. Leonardo De Castro (Philippines) and Giovanni Berlinguer (Italy).

4 The Universal Declaration on Bioethics and Human RightsGroup conclusions: Initiative support/need to develop “a worldwide common sense in order to foster understanding and cohesion in relation to ethical categories and new practical possibilities emerging from science and technology”

5 The Universal Declaration on Bioethics and Human RightsIn January 2005, the draft was examined by the Intergovernmental Bioethics Committee (IGBC) and it was revised/amended in two meetings of governmental representatives This is the first internal legal (though non-binding) instrument that comprehensively deals with the connection between human rights and bioethics. Most international declarations/guidelines in this field do not have the “status of legal instruments”, since they have been issued by non- governmental organizations (i.e. The World Medical Association (WMS) or the Council for International Organizations of Medical Sciences (CIOMS)) and other academic/professional institutions. Other documents, despite being adopted by intergovernmental bodies, cover only specific bioethical topics (for instance, the UNESCO Declaration on the Human Genome and Human Rights, 1997), or are regional (but not global) instruments (such as the European Convention on Human Rights and Biomedicine, 1997)

6 The Universal Declaration on Bioethics and Human RightsThe Declaration encompasses in Section II important principles relating to bioethics. According to the interpretation provided by Art. 26, the principles are to be understood as “complementary and interrelated”. Therefore, the relationship between them has been conceived as “non-hierarchical” In case of conflict between two or more principles, the priority of one of them will be determined taking into account specific circumstances involved in each case, as well as the cultural peculiarities of each society. However, the principle of respect for human dignity should always have a primary role in every bioethical decision (for its overarching nature)

7 The Universal Declaration on Bioethics and Human RightsThe Explanatory Memorandum clarifies that: The principles of the Declaration apply as appropriate and relevant at two different levels: (i) individuals, families, groups and communities who are affected by these decisions (ii) those who make such decisions or carry out such practices, whether they are individuals, professional groups, public or private institutions, corporations or states. The list is not exhaustive

8 The Universal Declaration on Bioethics and Human RightsThe principles mentioned in the Declaration: Respect for human dignity and human rights (Article 3.1) “Human dignity, human rights and fundamental freedoms are to be fully respected”  Priority of the individual’s interests and welfare over the sole interest of science or society (Article 3.2) “The interests and welfare of the individual should have priority over the sole interest of science or society”.  Beneficence and non-maleficence (Article 4) “In applying and advancing scientific knowledge, medical practice and associated technologies, direct and indirect benefits to patients, research participants and other affected individuals should be maximized and any possible harm to such individuals should be minimized”

9 The Universal Declaration on Bioethics and Human RightsAutonomy (Article 5) “The autonomy of persons to make decisions, while taking responsibility for those decisions and respecting the autonomy of others, is to be respected. For persons who are not capable of exercising autonomy, special measures are to be taken to protect their rights and interests” The Explanatory Memorandum makes clear that: Respect for personal autonomy is strongly linked to and, according to certain interpretations, derives from the notion of human dignity. Individuals cannot be instrumentalized and treated merely as means to a scientific end; they should be granted the authority to make autonomous decisions in all aspects of their lives where their decisions do no harm to others. Autonomy refers to the concept of acting in accordance with voluntarily accepted principles but it does not liberate the individual from taking responsibility for his or her actions.

10 The Universal Declaration on Bioethics and Human RightsInformed Consent (Article 6) Articles 5 and 6 are interconnected in the sense that autonomy and responsibility are the basis of informed decisions in the field of bioethics. Article 6 affirms the relevance of information in different cases of informed consent. The article deals with the concept of informed consent in two major fields. Paragraph a) deals with informed consent in the field of scientific research; paragraph b) refers to any decision or practice with regard to medical diagnosis and treatment.

11 The Universal Declaration on Bioethics and Human RightsParagraph a) requires prior, free, informed and express consent of the persons concerned. This consent may be withdrawn at any time and for any reason. The term ‘free’ means voluntary consent “without inducement”. Paragraph b) goes beyond the requirement of consent by emphasizing the ongoing participation of persons in such decisions as affect them. Ongoing participation, on one hand, refers to an active role of participants (patients); on the other hand, it also indicates that informed consent is no longer a one-step requirement before the treatment, as communication should be continuous throughout the treatment.

12 The Universal Declaration on Bioethics and Human RightsProtection of persons unable to consent (Article 7) “In accordance with domestic law, special protection is to be given to persons who do not have the capacity to consent:  (a) authorization for research and medical practice should be obtained in accordance with the best interest of the person concerned and in accordance with domestic law. However, the person concerned should be involved to the greatest extent possible in the decision-making process of consent, as well as that of withdrawing consent;  (b) research should only be carried out for his or her direct health benefit, subject to the authorization and the protective conditions prescribed by law, and if there is no research alternative of comparable effectiveness with research participants able to consent. Research which does not have potential direct health benefit should only be undertaken by way of exception, with the utmost restraint, exposing the person only to a minimal risk and minimal burden and, if the research is expected to contribute to the health benefit of other persons in the same category, subject to the conditions prescribed by law and compatible with the protection of the individual’s human rights. Refusal of such persons to take part in research shoud be respected”.

13 The Universal Declaration on Bioethics and Human RightsSpecial attention to vulnerable persons (Article 8) “In applying and advancing scientific knowledge, medical practice and associated technologies, human vulnerability should be taken into account. Individuals and groups of special vulnerability should be protected and the personal integrity of such individuals respected” Privacy and confidentiality (Article 9) A right to privacy guarantees a control over personal information in many ways. It restricts access to personal and medical information and it provides a claim of non- interference in various private spheres of the individual. Confidentiality refers to a special and often fiduciary relationship, such as that between researcher and research subject, or doctor and patient, and provides that the shared information shall remain secret, confidential and shall not be disclosed to third persons, unless a strictly defined, compelling interest justifies disclosure under domestic law.

14 The Universal Declaration on Bioethics and Human RightsEquality, justice and equity (Article 10) “The fundamental equality of all human beings in dignity and rights is to be respected so that they are treated justly and equitably” According to the explanatory memorandum: Article 12 deals with three notions closely connected with one another. ‘Equality’ in a legal sense refers to the equal treatment of individuals in a similar situation, while the term ‘equity’ refers to a discretion, which serves as a corrective mechanism to formal equality by looking at the special circumstances of particular cases. ‘Justice’ in the philosophical sense is a normative principle that refers to a judgement on the arrangement of institutions, society, groups of individuals. A common definition of justice could be “treating the equal equally and the unequal unequally”.

15 The Universal Declaration on Bioethics and Human RightsIn Article 1 of the Universal Declaration on Human Rights, the concept of equality was articulated in the following way: “All human beings are born free and equal in dignity and rights. They are endowed with reason and conscience and should act towards one another in a spirit of brotherhood”. In the present declaration, this concept of brotherhood, expressed in a contemporary way, is further elaborated in Article 12 on Solidarity and Cooperation. In addition to the general meaning, principles of justice play an important role in many decisions and practices in the field of bioethical issues, such as in allocating health care services and setting priorities in health care, both in general and in single cases.

16 The Universal Declaration on Bioethics and Human RightsNon-discriminaion and non-stigmatization (Article 11) “No individual or group should be discriminated against or stigmatized on any grounds, in violation of human dignity, human rights and fundamental freedoms” It focuses only on unlawful, unfair or unjustifiable discrimination between people based on any grounds such as gender, age, ethnicity, disability or other physical, mental or social conditions, diseases or genetic characteristics and the like. The list is not closed. Discrimination may distort scientific progress. For instance, the routine exclusion of women from research trials has led to the fact that many of the conditions specific to women remained unknown or uninvestigated and that discoveries that were applicable to men were simply assumed to be applicable for women patients. There are many similar instances affecting stigmatised or disadvantaged groups.

17 The Universal Declaration on Bioethics and Human RightsRespect for cultural diversity and pluralism (Article 12) “The importance of cultural diversity and pluralism should be given due regard. However, such considerations are not to be invoked to infringe upon human dignity, human rights and fundamental freedoms, nor upon the principles set out in this Declaration, nor to limit their scope”

18 The Universal Declaration on Bioethics and Human RightsSolidarity and cooperation (Article 13) “Solidarity among human beings and international cooperation towards that end are to be encouraged” Article 13 reflects the commitment that the declaration is based not only on the individualist concept of rights but also recognizes the importance of solidarity between individuals and across communities. Serious inequalities in access to health care worldwide increase the importance of including solidarity as one of the principles of the declaration.

19 The Universal Declaration on Bioethics and Human RightsAccess to health care and essential medecines (Social responsibility and health, Article 14) “The promotion of health and social development for their people is a central purpose of governments that all sectors of society share. Taking into account that the enjoyment of the highest attainable standard of health is one of the fundamental rights of every human being without distinction of race, religion, political belief, economic or social condition, progress in science and technology should advance: access to quality health care and essential medicines, especially for the health of women and children, because health is essential to life itself and must be considered to be a social and human good; access to adequate nutrition and water; improvement of living conditions and the environment; elimination of the marginalization and the exclusion of persons on the basis of any grounds; reduction of poverty and illiteracy”.

20 The Universal Declaration on Bioethics and Human RightsBenefit sharing (Article 15) “Benefits resulting from any scientific research and its applications should be shared with society as a whole and within the international community, in particular with developing countries. In giving effect to this principle, benefits may take any of the following forms: special and sustainable assistance to, and acknowledgement of, the persons and groups that have taken part in the research; access to quality health care; provision of new diagnostic and therapeutic modalities or products stemming from research; support for health services; access to scientific and technological knowledge; capacity-building facilities for research purposes; other forms of benefit consistent with the principles set out in this Declaration. Benefits should not constitute improper inducements to participate in research”.

21 The Universal Declaration on Bioethics and Human RightsProtection of future generations (Article 16) “The impact of life sciences on future generations, including on their genetic constitution, should be given due regard” Protection of the environment, the biosphere and biodiversity (Article 17) “Due regard is to be given to the interconnection between human beings and other forms of life, to the importance of appropriate access and utilization of biological and genetic resources, to respect for traditional knowledge and to the role of human beings in the protection of the environment, the biosphere and biodiversity” .

22 The Universal Declaration on Bioethics and Human RightsSection III (Application of the principles) is devoted to those principles of a more procedural nature, such as: The requirement for professionalism/honesty/integrity/transparency in the decision-making process regarding bioethical issues (Article 18) The need to establish independent/multidisciplinary/pluralist ethics committees (Article 19) The call for an appropriate risk assessment and management in the biomedical field (Article 20) The need for justice in transnational research (Article 21) .

23 The Universal Declaration on Bioethics and Human RightsThe Declaration’s key aspects The principles enshrined in the document are formulated in very general terms. It does not give almost any definition of their precise meaning (except for basic descriptions in the Explanatory Memorandum accompanying the preliminary draft declaration) The methodology used is a common practice in law. Except for technical words, lawmakers normally prefer not to provide precise definitions. They rather tend to leave the task to common understanding/the courts’ interpretation to avoid being limited by rigid definitions For what reason? It would have been impossible to reach a global agreement on the specific meaning of terms such as “human dignity”, “autonomy”, “justice”, “benefit”, “harm” or “solidarity”, which have a long philosophical history and are – to some extent – influenced by cultural factors. .

24 The Universal Declaration on Bioethics and Human RightsIn addition, the generality in the formulation of the principles can also be justified by the need to find a balance between: Universalism of some bioethical norms Respect for cultural diversity The Declaration is a kind of compromise between a theoretical conceptualization made by experts and what is practically achievable given the political choices of governments. Governments, not independent experts, have the last word in all declarations/conventions issued by UN agencies Non-binding nature (a soft law instrument). This enables States to take on commitments they otherwise would not have taken, because they assume mere political obligations that are not legally binding. .

25 The Universal Declaration on Bioethics and Human RightsWhat’s the final goal? Not to elaborate new bioethical principles or to provide the solution to a growing list of bioethical dilemmas. Its main purpose is to gather some basic standards in order to help States to promote responsible biomedical research/clinical practice, in compliance with the principles of international human rights law. .

26 Report of the IBC on Updating Its Reflection on the Human Genome and Human Rights (2015)

27 IBC Report (2015) In response to the rapid advancements in genetics and genomics, the International Bioethics Committee (IBC) decided to update its reflection on the issue of the human genome and human rights, building upon the considerable work done on this topic by the IBC in the past. Opinion structure Ethical challenges deriving from recent developments in genetics and biomedicine Institutional/transnational framework of genetic research Selected areas of application (1)Direct-to-consumer (DTC) tests, 2) Precision/personalized medicine, 3) Biobanks, 4) Non-invasive prenatal testing, 5) Emerging techniques for engineering gametes and editing the human genome) .

28 IBC Report (2015) Sequencing DNA has become easier, faster and cheaper Context for updates: Sequencing DNA has become easier, faster and cheaper Direct-to-consumer tests, precision/personalized medicine, biobanks, non-invasive prenatal testing, and emerging techniques for engineering gametes and the human genome are among the most challenging developments of today .

29 IBC Report (2015) 5 ethical principles/social challenges have been addressed: Respect for autonomy and privacy (an individual’s genetic data are among the most “personal” data. Adequate protection is needed) Justice and solidarity (genetic promises to improve healthcare; advancements should be shared with society as a whole/international community, avoiding any forms of discrimination) Understanding of illness and health (it might be emotionally relieving or, on the contrary, upsetting for an individual to know about his or her genetic endowment; Likewise, behavioural/social/environmental determinants of health play a crucial role. There is the need to understand the complexity of factors influencing health) Cultural, social and economic context of science (globalization, access to information and growing pluralism strengthens the necessity of deeper reflection on the value, meaning, and direction of science as well as of a legal framework complying with the respect of fundamental human rights) Responsibility towards future generations (think of the field of genome editing) .

30 IBC Report (2015) Ethical challengesGenetic tests are being offered more and more for non-medical purposes and the boundary between medical and non-medical use is blurring: commercial endeavours are increasingly flourishing, with companies earning profits through performing genetic tests for customers for almost everything. What impact on the principle of “Respect for autonomy and privacy”? An individual’s genetic data is considered personal data. Such identifiable data have to be protected from access by unauthorised persons as well as from possible misuse. Only the person tested has the right to decide, whether she or he wants to know or not to know about her or his genetic makeup, whether someone else may get access to this information and for what purposes genetic data are to be processed and used. Autonomy in this context: the right to self-determine oneself in living a good life according to one’s own beliefs .

31 IBC Report (2015) Benefits of information about one’s genetic make-up:preventing/treating diseases Possible risks relating to knowing in advance: causing anxiety/becoming a moral burden Autonomous decisions should rely on validated/reliable information about the test, alongside its outcomes and consequences. The lack of proper genetic counselling may have a detrimental effect on the quality of the decision-making process. Counselling without the influence of commercial interest is an important prerequisite for fostering adequate awareness and especially DTC tests pose major challenges here. The interaction between genetic information and lifestyles (as well as to what extent test results may affect personal habits) is missing Autonomy in genetics cannot only take into account the person being tested. There are necessary implications for relatives and communities as well, who may share the same or similar genetic status. Is there an overarching right not to know and / or not to disclose, or can there be situations where family members have to be informed, e.g. when a severe disease can be prevented or treated, or when diagnosis of a serious disease can only be made when another family member is also tested? .

32 IBC Report (2015) What impact on the principles of “Justice and solidarity”? Genetics might contribute to a better health care in several ways. For example, personalized medicine promises better outcomes and lowers the burden for specific diseases like some types of cancer. Although genetic techniques are becoming increasingly less costly, they still require a lot of resources which some health systems cannot afford. Education is also a matter of justice: persons with a lower education level and lower health literacy are denied the information which is required to exercise their freedom and autonomy. Discrimination and stigmatization on genetic grounds can also occur outside the health sector (e.g. non-medical insurance or work place). .

33 IBC Report (2015) Effects of discrimination and stigmatization can also occur with regard to prenatal and preimplantation genetic testing The consequence of detecting a genetic abnormality is very often not a therapeutic intervention for the unborn child (which may be simply impossible) Even though some diagnoses have led to treatment in utero, the more likely consequence is resorting to abortion or discarding the embryo. Erroneous or misinterpreted results could lead to the destruction of healthy and normal embryos or foetuses The introduction of noninvasive prenatal diagnosis is being increasingly implemented as a routine measure during early stages of pregnancy Justice and solidarity between countries is a priority in this field as well as in many others (i.e. This is especially true for lower and middle income countries which might contribute to scientific progress through participation in scientific and medical research without having the possibility to benefit from the results, because the health care system cannot afford implementing appropriate genetic services) .

34 IBC Report (2015) Understanding of illness and healthThe increasing knowledge about the impact of genetic factors on diseases/disabilities may have different consequences: it may be beneficial and emotionally relieving for an individual to know about genetic influences on her or his disorder However, an overestimation of the genetic influence on the phenotype of a person, called genetic determinism, may lead to an underestimation of other biological as well as behavioural, psychosocial and environmental factors The responsibility of scientists and clinicians to explain the importance and the limits of genetics to the whole public is particularly important here Some problems need highlighting: 1. information on risk profiles and disease prediction, especially of multifactorial diseases, is hardly evidence-based; 2. the healthy individuals, knowing of a higher risk for some diseases, may already perceive themselves as being ill; 3. Knowledge of a greater risk can be especially burdensome when there is no available preventive/therapeutic intervention and it has detrimental effects on the individuals and their family. .

35 IBC Report (2015) Cultural, social and economic context of scienceThe logic of scientific and technological progress induces a rapid change, leading some people to imagine that everything that is technically possible should be achieved. This process is hard to control: no ethical standard or legal body appears to be capable of containing it. Such a phenomenon is intensified due to a radical conception of autonomy, according to which any medical progress should be at the disposal of patients, who are turned into consumers (clients). Several aspects of medicine, which previously asked “Where does it hurt?”, have been transformed into a practice of “What would you like?” and respond to the logic of demand and supply (stronger interactions between biomedicine and the market) When technical and scientific capacity reaches a new threshold (for instance, the possibility of introducing a genetic mutation into the genome of a human being), the ethical problem arises: what to do or not do, so that human beings remain human beings and achieve the best of their development? .

36 IBC Report (2015) IBC identified 3 important factors:Ethics is not simply a matter of individual morality but it involves society as a whole (technology cannot be justified only by individual freedom or consumer demand that goes with it: it must also pursue the common good) Technical and scientific progress and research should not be idealized as if they were free from any uncertainty (the genome entails a dynamic process, which extends over the entire social life of individuals) Science tends to become more accessible to citizens (over recent years, the status of patients has changed profoundly: they enjoy more autonomy and are more involved in the decision-making for their medical treatment. New media, the internet and free access to medical publications, as well as the large amount of information readily available, contribute to amplify this change, which has been called ‘participatory medicine'. Concerns stem from the quality of information provided) .

37 IBC Report (2015) Responsibility towards future generationsReproductive choices with regard to genetics are an issue of ongoing controversy Some people claim that parents have the right to make far reaching choices concerning their offspring, including the use of genetic information obtained from the early stages of pregnancy (underlining the responsibility of parents to strive for the best possible health of their children even by intervening in their genes) Others hold that they should refrain from genetic testing of their future children if it is not necessary for their health (stressing the right of every human being to have an unmanipulated genetic make-up)

38 IBC Report (2015) The IBC recalls that:The respect for the dignity of every human being entails the duty to refrain from making her or him a mere instrument for the fulfilment of the wishes and preferences of others. The effectiveness, safety and harmlessness of germline genetic interventions are far from being warranted at the present time. it is very important to be aware of the uncertain and highly variable functional state of the genome. We cannot be sure of the long term effects of the introduced changes.

39 IBC Report (2015) Selected areas of applicationDirect-to-consumer (DTC) tests an unprecedented technological development has resulted in reduction of the price of determining human genomic sequence The speed of obtaining a complete human DNA sequence has increased dramatically as well The combination of lower costs and increased speed brought sequencing of individual patients’ genomes into clinical medicine as a diagnostic procedure to detect mutations responsible for certain diseases Functional analysis of genomic sequences has also revealed epigenetic regulations that modify the expression of the DNA sequence throughout the life of an individual and add to the complexity of genomic information and human diversity Outcome: creation of a global web-based market for direct-to-consumer (DTC) tests for medical and non-medical applications This market is based on the individuals’ right to know information regarding them and undergo genetic testing for whatever purpose they consider valid, for example DNA analysis to determine their own or their children’s ancestry.

40 IBC Report (2015) Problematic aspects:In many cases, the tests’ results advertised on the internet are not based on scientific evidence. Yet such analyses are offered to suggest a tailored diet, exercise program, face cream etc. In some countries appropriate agencies can intervene when these tests approach health related matters, though offers on the international market are difficult or impossible to regulate on the national level. The fact that the companies performing the testing collect personal information that they may exploit for their own benefit, with little guarantee on the respect of individual privacy, is another important matter of concern.

41 IBC Report (2015) Precision/personalized medicineThis development is faced with the challenge of integrating and interpreting the enormous amount of data (‘big data’) derived from genetic and other molecular analyses/health records, including medical imaging, as well as different types of health-related environmental/lifestyle information Biomedical research in this field has revealed that in most cases diseases result from an interplay of multiple factors. Problematic aspects: The results have a statistical value which is often difficult to apply to an individual; they are imprecise, and limited to the type of information about whether a person can be said to have a lower than normal or increased risk for a disease. This type of information is difficult to interpret, to communicate and to apply in daily healthcare. Some mutations are directly life-threatening, others may only become a risk factor in later life, yet others increase the risk for a given disease, or decrease the risk for other diseases

42 IBC Report (2015) Biobanks Development of genomics research is based on storage of samples and data derived from patients and collected for diagnostic and research purposes in large sample collections (biobanks) A major challenge of biobanking involves the informed consent. It should be stressed that participation in a biobank must be voluntary. In newly established biobanks, sample donors are required to sign an informed consent form specifying the objectives of the research. However, it is essentially impossible to give donors specific information on the potential future use of their samples and data stored in a biobank as new technological advances are likely to provide totally new approaches regarding analysis of old samples and so a change of research on these samples As huge numbers of samples are often required to study the relationship between diseases, environment, nutrition and lifestyle, it is essentially impossible to ask hundreds of thousands of donors for re-consent every time a new experiment is considered. Broad consent vs. restricted consent Moreover, Protection of the confidentiality of data is a challenge when it can remain available also for authorized re-use.

43 IBC Report (2015) Another ethical problem of using biobanked samples for large scale sequencing stems from ‘incidental’ findings which may in the future be of considerable medical importance for the individual Non-invasive prenatal testing (NIPT): In recent years, new screening tests have been developed to identify chromosomal and genetic abnormalities of embryos and foetuses. These tests are non-invasive, making use of DNA from the embryo or foetus circulating in the mother’s blood. Prenatal screening encompasses the entire array of medical tests that all pregnant women – depending on institutional and financial accessibility – qualify for during pregnancy Screening for chromosomal abnormalities is at present a stepped procedure: the first step is called a ‘combined’ or ‘first-trimester test’, which is performed at a pregnancy term of eleven to fourteen weeks (it combines ultrasound with biochemical examinations from maternal blood, so they are non-invasive as well, though typically the notion NIPT is only used for the new genetic tests for circulating DNA).

44 IBC Report (2015) Pregnant women in whom the combined test indicates an elevated risk of a child with an abnormality are offered follow- up testing to determine whether the foetus has indeed a chromosomal abnormality. This is done using amniocentesis (at fifteen to eighteen weeks) or chorionic villus sampling (at eleven to fourteen weeks). Amniocentesis and chorionic villus sampling are invasive procedures during which cells are harvested from the amniotic fluid or the placenta. This is associated with a small but not negligible risk of miscarriage

45 IBC Report (2015) Ethical problems: NIPT as routinization and institutionalization of the choice of not giving birth to an ill or disabled child. Furthermore, there is the risk that pregnant women with a positive result don’t await the validation of the result through invasive diagnostics, but immediately choose to abort the embryo or foetus, without adequate counselling about the relevance of the detected abnormality. Also women may feel pressured to submit to such screening. They might be stigmatized if they refuse to take the test. Another risk lies in the cultural prejudices of preferring a child of the male sex, the sex of the baby being one of the characteristics that can obviously be discovered by NIPT. As this test can be carried out at a very early stage of the pregnancy it would be difficult, even impossible for doctors to forbid the communicating of sex to the parents, and especially at a time when many countries have liberalised abortion. This could lead to a selection based on sex, which is against ethical values of equality and non-discrimination

46 IBC Report (2015) Emerging techniques for engineering gametes and editing the human genome New experimental tools make it possible for scientists to insert, remove and correct the sequence of genes, opening up the possibility of treating, or perhaps even curing, certain single-gene disorders such as beta-thalassemia and certain forms of cancer If these procedures are refined and their safety to patients is established, they would enable the long-awaited success of somatic gene therapy In several countries somatic gene therapy has received ethical and regulatory acceptance because the genetic changes induced are not passed on to the next generation. It is exactly the potential application of these technologies to germline modification (a new technique of genome editing using a bacterial system, called CRISPR-Cas9, has recently been introduced offering the possibility of inserting, removing and correcting DNA with relative simplicity and efficiency), either for therapeutic purposes or for purposes of enhancement of particular characteristics of an individual that has raised the concerns of ethicists and scientists

47 IBC Report (2015) Particularly, on April 2015 a group of scientists from China published the results of applying this technique to human embryos obtained from in vitro fertilization but carrying abnormalities preventing their further development. The technique turned out not to be very effective and caused numerous inserting errors As a result, there have been calls for a moratorium on such technologies, at least until their safety and long-term consequences are better understood. Some countries banned germline modifications in humans whereas others do not impose legal bans, but have administrative or ethical rules (‘soft law’) prohibiting such experiments on gametes and embryos. Other problematic aspects raised: Gene therapy cannot provide the quick fix for the vast majority of diseases, which depend on many genes as well as environmental factors and lifestyles. If the editing of the human genome were to be applied to the germline it could introduce heritable modifications, which would be transmitted to future generations.

48 IBC Report (2015) IBC recommendations (for States, governments, scientists, and all actors of civil society both at the domestic and the international level): States and governments are called on to: a. Produce an international legally binding instrument to ban human cloning for reproductive purposes; b. Agree on a moratorium on genome engineering of the human germline, at least as long as the safety and efficacy of the procedures are not adequately proven as treatments; c. Renounce the possibility of acting alone in relation to engineering the human genome and accept to cooperate on establishing a shared, global standard for this purpose, building on the principles set out in the Universal Declaration on the Human Genome and Human Rights and the Universal Declaration on Bioethics and Human Rights;

49 IBC Report (2015) Encourage, through the means of national legislation as well as international regulations, the adoption of rules, procedures and solutions, which can be as noncontroversial as possible, especially with regard to the issues of modifying the human genome and producing and destroying human embryos. Adopt legislative and other measures, in order to: ensure that quality-assured information be provided with regard to direct-toconsumer tests, including non-medical tests, in order to mitigate risks and avoid misuse; organize health care systems, so that the new opportunities offered by precision/personalized medicine be shared with society as a whole, without becoming a new source of inequality and discrimination; develop a trustworthy form of governance for biobanks and biobank secrecy and harmonize the corresponding rules at the international level; ensure that the new possibilities of genetic screening and in particular of non-invasive prenatal testing comply both with the right to autonomous choices and the principles of non-discrimination and non-stigmatization and respect for every human being in her or his uniqueness.

50 IBC Report (2015) The community of scientists and related regulatory bodies are called on to: Strengthen and participate in international fora to update research and share information on the efficacy, safety, and consequences of new technologies related to the human genome; Set and share high quality standards for service delivery in genetics, so that they can be certified and included in legally binding instruments; Promote the use of genetic tests only for health purposes; Renounce the pursuit of spectacular experiments that do not comply with the respect of fundamental human rights and universal normative ethical standards and of those with unproven efficacy and safety

51 IBC Report (2015) Media and educators are called on to:Raise awareness and promote higher levels of health and scientific literacy, to empower people to make conscious and responsible use of new technologies; Avoid any sensationalism and encouragement of what is still a mere hope for a future to come, if not a deceptive promise; Disseminate and strengthen the idea that scientific advancements in biomedicine entail responsibilities, which cannot be left only to market forces of demand and supply to define the line of what should be accepted and allowed.

52 IBC Report (2015) Economic actors and for-profit companies are called on to: Comply with principles and regulations that ensure the highest standard of quality and safety for consumers and respect for privacy Refrain from circumventing restrictions in a particular country, in order to take advantage of weaker rules in other countries and maximize profit We are human because of the interplay of many biological, historical, and cultural determinants, which preserve the feeling of our fundamental unity and nourish the richness of our diversity. This is why the human genome is one of the premises of freedom itself and not simply raw material to manipulate at leisure. Scientific advancements in this field are likely to offer unprecedented tools against diseases. Therefore, it is crucial to acknowledge that these opportunities should never become the privilege of the few. What is heritage of humanity entails sharing both responsibilities and benefits.

53 Thank you for your attention!