Protecting Persons v. Protecting Humans in Biobanks

Chapter 7
Protecting Persons v. Protecting Humans in Biobanks

Judit Sándor


In this chapter I would like to explore the ambiguous and fragmented legal framework that has developed in the field of genetic data since the Human Genome Project. In my view, ambiguity stems partly from some of the current legal developments in biomedical research on the human tissue and on biobanks: these legal norms originally set out to protect persons (in the legal sense), but also were intended to protect humans (in the biological sense) as they exist in tissues, cells and DNA, because they have ‘human origin’. This dual aim of the new legal norms often remained hidden or, at least, was left without significant reflection. Furthermore, it contributed to the prolonged ambiguities and uncertainties related to the privacy and ownership debates on the human body. Therefore, I intend to unfold the reasons and scope of this dual aim by identifying some of the obstacles that hinder the thorough assessment of the main fields in which we now routinely use genetic data. Despite the widespread application of genetic data in research,1 legal frameworks of biobanks remain uncertain as to whom to protect and how to protect. Thus, should we protect human tissues as persons? Should we grant property rights on the DNA samples? Are there any alternative to respect the rights of research participants?

Public discourse on genetics is greatly influenced by the emblematic nature and powerful symbolism of the human DNA. One may assume that it is this symbolic character of the human DNA that played a crucial role in the conceptual shift from the protection of persons to the protection of humans in the legal discourses on genetic data. In response to advances in genetics during the past two decades after the completion of the Human Genome Project, law has provided two sharply distinguishable solutions to the emerging legal challenges. The first one developed a ‘rhetoric of skepticism’ and argued that there is nothing new and nothing special about genetic research and genetic data, therefore already existing legal reasoning can be applicable to these fields. The other position passionately claimed the novel character of genetic research and emphasized the unique specificities of genetic data.

Molecular biologists and social scientists have enthusiastically attached various labels on genes from ‘Holy Grail’2 to ‘Rosetta Stone of Life’.3 But one can see that critics of genetic studies have also applied strong and colorful vocabulary, such as ‘gene fetishism’4 used by Haraway, while some others mention ‘geneticization’5 which refers to an ideology that reduces individual attributes to genetic diagnosis. Since the beginning of the debates on the regulation of genetic research and use of genetic data exaggerating tones on both sides prevented to create a friendly environment for good regulation.

The other obstacles to the coherent normative framework can be identified in the multiple uses of genetics, from paternity tests, to criminal investigations, from assessing susceptibility to certain diseases to genetic discoveries that may result in developing intellectual property; from collecting genetic data for uncertain future research to the direct therapeutic benefit for the patients. All these distinct domains require different legal assessment and often different normative solutions, as well. Regardless of the critical reflections, genes are conceived more and more as sources of information for biomedical or forensic research; they are applied as tools for diagnosis or therapy; and they are also used as data in actuarial calculi and many other fields. What is relevant that genes can be interpreted as sensitive personal data that are capable to reveal significant information about the individual. In any case, genes are seen as precious entities, valuables and, as such, raise the issues of ownership and property.

Interventions with the aim to cure children’s suffering, (for example, from cancer) are accepted more easily by the general public, even if they call for the use of genetic engineering, than scientific researches that do not promise immediate therapeutic benefits. The situation is different when genetic information is not intended to be used for therapeutic or research purposes, but in connection with insurance, the creation of patents or the establishment of business-oriented biobanks. In these fields of activities, the general public tends to be even more suspicious, and the law also tends to stipulate stricter conditions for the use of genetic knowledge.

Another source of ambiguity is the false perception that laws have to be renewed whenever a new technology appears on the horizon. In the face of new challenges, the law should not set up new legal institutions automatically, but rather endeavour to insert the new knowledge among the existing legal principles with a view to maintaining the proper consistency. If the legal system were turned upside down for every technical novelty or innovation, the basic construction of the rule of law would collapse due to the loss of predictability. For this reason, the extent of legal innovation tends to be much smaller than the strong drive of science for innovation. If a technical or scientific novelty emerges, legal thinking will turn to incorporation and interpretation, rather than to the establishment of a new legal institution.6

This approach also explains why the most significant European document on biomedicine is based on the already existing norms of human rights. Adopted in 1997 in Oviedo, after several years of consultations, the convention is the key pan-European source of law in relation to the issues of biomedicine.7 It follows from this convention, as well as from the European Convention on Human Rights that the principle right that can be applied in the field of biobanks and genetic research is the right to privacy (or right to private and family life). So we should examine this right more closely.

Right to privacy in the biobank

In order to assess the relevance of privacy in biobanks we have to go back to the history of the right to privacy, especially to its function to protect individuals against technical intrusions into their private spheres. The legendary article written by Samuel D. Warren and Louis D. Brandeis on the right to privacy was published in 1890 in the Harvard Law Review.8 It is one of the most frequently cited and most accepted justifications for the right to privacy. The passionate tone of the article, which had been motivated by the private injuries suffered by the authors’ families, is still forceful and today it is not only part of the American legal literature but its reasoning is often cited in international legal scholarship as well.

In their groundbreaking article, the authors made the famous argument that the right to privacy should strengthen simultaneously with technological development. Without technological means of forwarding, a simple gossip, though unpleasant, can cause only limited injuries, but publishing the same information in a newspaper raises completely new challenges to the protection of privacy and personality. As property rights are also widening to encompass not only titles to physical objects but also to intellectual achievements, the protection of the persons’ intellectual and emotional expressions are required to be extended in the same way. Brandeis’ and Warren’s argument has proven to be so flexible that it is applicable to every new situation that a technological advancement creates from telephone tapping through surveillance by street cameras to DNA sample collection. Contemporary legal instruments all refer to the notion of privacy as a major principle that justifies protection and restricted use of the biological samples in biobanks.

Right to private life and data protection in Europe

Article 10 (2) of the Oviedo Convention states clearly that ‘[e]veryone is entitled to know any information collected about his or her health. However, the wishes of individuals not to be so informed shall be observed.’9

In connection with genetic research, there has emerged a growing demand for the establishment of genetic databanks operated in national or other institutional frameworks. These genetic databanks call for special regulations even if they are only involved in data storage and data management, or operate as tissue banks. Genetic tests provide specific challenges to the protection of private life.10

Though the rights to privacy were already appeared in the American jurisprudence at the end of the 19th century, the legal concept of data protection has appeared much later. The first law on data protection was introduced in continental Europe only in the 1970s. Early laws on the protection of data primarily focused on the technical aspects of the management of information and the safety of data management.11 The first law on the protection of data was adopted in the State of Hessen in Germany in 1970, and it was only the beginning of a long list of laws and institutions created for a better protection of data on individuals. In Sweden, the Act on Data Protection established the Data Protection Council in 1973; and in Germany the 1990 amendment of the 1977 Data Protection Act created the office of the Data Protection Commissioner. This first generation of data protection norms was created on the basis of the concerns about the centralized collection of data. Since the beginning of the 1970s the legal norms formerly drafted in rather technical terms were replaced by the connection of the rights to privacy and the data protection norms. This phenomenon could be detected in the Austrian, Spanish and Portuguese regulations,12 and led to the connection of data protection to constitutional rights.

What is so special about genetic data?

For a long time it was believed that anonym data could guarantee the highest level of protection for genetic data. However, many problems were identified in respect of systematic anonymization of genetic samples and data. First of all, anonym data cannot be matched with other health data and as such it is less relevant for scientific research. But taking into account the participants’ interests it is also contestable as with anonymization a further feedback based on the request of the owner of the sample would be usually impossible.

One difficulty that laws on the biotechnologies always face is how to balance between legal and scientific definitions of certain terms. While science may develop comfortably without laying down strict legal definitions of the terms ‘biobank’ or ‘genetic data’, lawmaking requires these definitions to be exact and understood unequivocally, even across the related legal instruments. This, however, brings about the problem of inflexibility: as biotechnological inventions develop, such as in the fields of cloning or stem cell research, new advances might not fit the old definitions.

Genetic information has brought about specific legal problems in data processing, as well as in data protection.13 The scope of genetic data itself is difficult to define. Certain family-related medical data should be viewed to belong to this category alongside susceptibility factors or monogenic disorders (caused by the defect or deficiency of a single gene). The accuracy of and potential for using these data are highly variable. Information on any hereditary disease has a serious impact on the lives and decisions of family members who may not have wanted to subject themselves to test examinations.

Genetic data have their implications on lifestyles, routines, selection of spouses, decisions to have children, career preferences and even the learning ambitions of people. Whoever decides to become acquainted with these parameters has the opportunity to become informed within the limits that the healthcare system can offer. In legal terms, the question is rather how to ensure the right to control genetic data. 14

The main argument behind genetic exceptionalism is that personal genetic data should be processed under special legal guarantees, as genetic data can be considered not only as a simple health care data,15 but it can also be used for identification purposes. In comparison with conventional medical data, another major difference is that genetic data do not only refer to the medical status of the examined person, but may reveal the medical characteristics of the affected family members or even children about to be born. Therefore, it can be claimed that medical data are generated without the persons concerned knowing about the existence of the data.

A key condition of the legislative act on data protection is that any data processing should be bound to a specific purpose. Thus, personal data may only be processed for stated purposes, towards the proper exercise of rights and fulfillment of obligations. Data processing should comply with the given purpose in all its phases. Furthermore, only such personal data can be managed that are essential to accomplish the given objective of data management, suitable for the purpose stated, but only to the extent and for the duration actually required for the accomplishment of the underlying objective. So in strict interpretation medical data – not to mention genetic information – generated for medical purposes, and – for instance – forming parts of a given documentation, cannot be disclosed in their original form to insurance companies, but may be revealed only to the extent they are absolutely necessary for the insurance activities.

Many distinguished social scientists, even bioethicists,16 however, did not subscribe to these special claims associated with regulation on genetics. In order to challenge the legitimacy of the particular regulation they pointed out that many characteristics of the data – predictive, particular, sensitive – can be also seen in other types of health care data. In the European jurisprudence, especially in the decisions of the European Court of Human Rights protections of health care data together with the data on private and family life have been acknowledged in several important court decisions.17

Legal scholars are also hesitant to jump to enact special legal provisions to genetic data.18 Usually health care professionals, especially those who work in the field of biobanks favour tabula rasa and are eager to seek specific a law that governs their situation so that they do not have to worry about often vague legal interpretations of general legal norms on data protection.

The importance of the genetic data motivated several legislations worldwide. For instance, regarding the Hungarian Parliamentary Act No XXI of 2008 on the protection of human genetic data and the regulation of human genetic studies, research and biobanks, one may state that it has become shorter and simpler than in the original policy paper in a desperate effort to avoid sensitive issues. Thus, the law addresses the use of genetic information only in the very narrow biomedical sector: in the fields of genetic testing, screening, and research. The law restricts the use of genetic data only in this biomedical context so even in the lack of regulation of the broader use of genetic data based on the Act genetic data processed for diagnostic or research purposes cannot be disseminated for the purposes of insurance. Despite the intended laconic law the mere word ‘genetics’ was a calling for a vehement debate by various political actors. Fears of genetic discrimination, exploitation or trafficking data to foreign countries were the major concerns in the political debate. Maybe it is not an exaggeration to say that this law served as a learning exercise for the wider public on contemporary ethical issues in genetics. In addition to regulating and interpreting privacy protection in the field of genetics, the other consideration of why rights are re-interpreted in this domain is the prohibition of discrimination.

It follows from the spirit of data protection norms that even rules on biomedical research have to be developed in order to respond to different kinds of uses of genetic data. For instance, consent for collection and for specific use of genetic data is a precondition for the research. But then legal policy should differentiate whether the research material still carries personal information or not. When human tissue samples are anonymized in the sense that it is no longer possible to trace back the identity of the person from whom these tissues have been harvested then legal concerns are minimized to governing the tissue management.

Prohibition of genetic discrimination

The threat of genetic discrimination is existent in several fields of life, yet the interpretation of this concept is not as evident as that of racial discrimination.19 Any person belonging to the genetic minority with respect to a specific characteristic may belong to the genetic majority in terms of another property. Nevertheless, being a part of some genetic minority may even bring about some advantages, or in the case of rare diseases researchers often hunt for these conditions for studies and that might also offer some therapeutic advantages to the previously discriminated group.20

The European Union has been surprisingly quick in including genetic discrimination in the list of forms of discrimination that are conventionally subject to prohibition in the Charter of Fundamental Rights.21

On the other hand, discrimination on the basis of genetic properties is partly different from the cases and instances of discrimination that have emerged so far; although they are also unalterable characteristics, in most cases they remain invisible. If, however, others know about them, they may cause uncertain and unforeseeable disadvantages to the person concerned, and serve as a basis for uncertain abuses. For example, if the employer becomes aware that some employees are genetically more susceptible to certain illnesses or diseases, it can be easily presumed that, entirely due to the higher risks, these employees would find themselves in a less favorable situation in spite of the fact that these characteristics do not constitute any monogenic irregularity, but just an increased level of susceptibility.

Possibility of stigmatization and discrimination poses a great danger especially in serious late onset diseases where efficient therapy or prevention is not yet known.22

Access to insurance

In 2012 Council of Europe launched a public consultation on the predictivity, genetic testing and insurance. The aim of the consultation was a preparation of a further legal instrument that would cover the application of genetic data beyond health purposes (in the field of insurance and work). Mapping the needs and principles of insurance industry, as such is a very ambitious project as in Europe various types of private insurance models and social welfare schemes do not necessarily exclude each other. Private insurance is based on the joint sharing of risks within a certain (standardized) pool of clients. Therefore, insurance companies have compelling interests in assessing the future risks carried by the persons to be insured as accurately as possible.23

In most parts of Europe, distribution of basic medical services are based on general insurance scheme and on the principle of solidarity. For this reason, the assessment of genetic risks still has little significance here, as it would not result in larger insurance fees or exclusion from the insurance. The situation is completely different in the case of insurance policies for life, accident or inability to work. In this field, the general legal principle is uberrimae fides,24 which should be based on the largest possible degree of trust between the contracting partners. Consequently, the person to be insured must not conceal any information that is deemed to be significant in the assessment of the associated risks.25

If anyone has such a genetic ‘finding’ that, in life insurance, would affect the risks to be assumed by the insurer, this information – in theory – may not be hidden from the insurance company.26 There may be cases when the genetic test should mean preferential insurance fees for the insured person in comparison with the fee calculated in the conventional manner. For instance, if – within the scope of questions of the insurance company pertaining to medical status illnesses and diseases having already occurred in the family – the person to be insured makes up a less positive picture; but the genetic test can prove that the same person does not carry the genes being responsible for the occurrence of the specific disease, the fee to be imposed in view of the higher estimated risks may be avoided.

Under Article 12 of the Oviedo Convention, predictive genetic tests27 may be performed on the basis of appropriate genetic counselling, and solely for health purposes or scientific research. Consequently, the insurance company cannot obligate the person to be insured to take part in any genetic examination. Yet, this requirement does not fully solve the problem, because the few people who have already had unfavorable genetic ‘findings’ may be disadvantaged in insurance affairs. If the above-referenced article and data protection norms are related to each other, the fact that the registration of any data should be bound to a specific purpose implies that available data may be used for other purposes only with the special consent of the person concerned.

Another problem is that insurance companies tend to request the submission of medical information over a fairly broad scope. Although the large majority of these medical data focus on conventional medical information, in the future a broadening set of information will have a genetic character. In other words, the more we know about the genetic backgrounds of individual diseases, the more the genetic component of these data strengthens. The regulation may also differ as to concerns the scope of the use of genetic tests. Here, access to the test results of medical records, genetic tests for diagnostic purposes, predictive genetic tests that reveal genetic susceptibility should be assessed distinctively.28

It is worth observing that life insurance companies have long been interested in diseases and illnesses within the family. The ages reached by parents, brothers, sisters, as well as the causes of their death. In fact, these details can be regarded as a kind of genetic data, as they do not rely on the medical data of the person concerned, but consider the anamnesis in the family. Although they tend to be different between the various insurance companies, medical sheets often inquire about the occurrence of specifically heritable diseases within the family. It is evident that the insurance company asks for these details because the assessment of the future medical status is at the core of the approach of insurers. Some of the insurance companies evaluate these data as the influence of the family environment, while others consider them to be indirect evidence for higher medical risks. For example, if cancer or diabetes has occurred in the family on several occasions, this fact may have its implications on the life insurance.

Use of genetic information in the health care of the family members

A serious and still unsolved ethical and legal problem is posed by the issue of to what extent consenting relatives may be informed on the results generated by the research. If they are informed of any family disposition to suicide, depression or other psychiatric diseases, this information would seriously affect them and the wider family as well. Thus, the information may contribute to conflicts and tragedies within the family.

Without the proper identification of genetic factors and environmental influences, this information may be seen as a destiny. This line of thinking potentially leads to the conclusion that relatives should not be provided with the research results. However, the question is not as simple as that. There may be cases when relatives have legally confirmable motivations for the receipt of the associated information. Under the Hungarian legal regulations, relatives may not be banned from becoming informed of medical data that concern them.

In recent decades, legal rules of informed consent have tended to follow the individual based model to a growing extent: it means that information is only provided to the patient provided that s/he is capable to act, while family members may only be informed if the patient expressly consents. It seems, however, that genetic information will potentially re-establish the role of information provision to the family.29 In the case of certain diseases, there are just a few people who undergo routine medical screening. Yet, when such a disease appears in a family, it is regarded as a reason for family members to take screening examinations and prevention more seriously, especially when the disease is known to be hereditary.30 With the enlarging scope of genetic knowledge, more and more diseases are likely to involve the obligation of physicians to warn the family members.31

Already in several early judicial cases on genetic data the intergenerational character of genetic data has been recognized. In the Munro v. Regents of University of California case, for instance, the Court of Appeal of the State of California claimed the defendant physician to be responsible for failing to conduct the Tay-Sachs test. In the Safer v. Pack case,32 the court ascertained the liability of the physician for the failure to provide information when he did not warn the relatives of a patient who had been treated for a known hereditary disease of the associated risks. In the Pate v. Threlkel33 case, the Court of Appeal of the State of Florida also confirmed the obligation of the physician to warn the children of the patient.

In the case of genetics, the individual consent model is also often challenged.34 It follows from the recognition of the interest of several third parties in genetic data that justification of the individual consent model is problematic or, at least, requires some adjustments.

Forensic use of genetic data

DNA is a very useful piece of evidence in criminal justice system. Still, from the moment of collection, storage and retention all of these episodes have distinct legal aspects; how to ensure the security and authenticity of the data and how to protect the innocent or unconvicted party’s privacy, as well as how to prevent the discriminatory use of this data.

In the case of S. and Marper35 the European Court for Human Rights made a decision for the first time on the retention of the genetic data in the criminal justice system. The Court found that there had been a violation of Article 8 of the European Convention for the Protection of Human Rights and Fundamental Freedoms, stating:

[…] the Court finds that the blanket and indiscriminate nature of the powers of retention of the fingerprints, cellular samples and DNA profiles of persons suspected but not convicted of offences, as applied in the case of the present applicants, fails to strike a fair balance between the competing public and private interests and that the respondent State has overstepped any acceptable margin of appreciation in this regard. Accordingly, the retention at issue constitutes a disproportionate interference with the applicants’ right to respect for private life and cannot be regarded as necessary in a democratic society.

Although in the forensic use of the genetic data the primary concern is not property law, still in the People v. Rodriguez, the New York Supreme Court’s Criminal Term in King’s County directly recognized a DNA contributor’s property right in preventing the genetic information’s dissemination in its decision to limit the use of defendant’s DNA in solving uncharged crimes.36

Forensic use of biobanks constitute one of the most contested fields as searching for evidence in a biobank is a clear alteration from the original purpose of collection, while – in case of violent crimes – police is often under pressure to look for all possibilities.37

Use of genetic information in family law

Elements in personhood and kinship can be seen in those DNA debates, when paternity and maternity is challenged, or biological parenthood is to be established. If genetic evidence is used in legal disputes within the family, the establishment of parenthood may become more certain, and there may be broader potential for posthumous identification of family relations.

These purposes in themselves are understandable, but if the process leads to the overstatement of genetic family relations, it may carry the risk of the underestimation of non-biological family ties.

It seems that the skeptical phrase of pater semper incertus est38 has been fading into the past, and the underlying reasons include not only the spread of genetic identification tests, but the fact that the person of the mother has become subject to legal disputes as well. In the Johnson v. Calvert case39 in the USA, both mothers grounded their relations with the newborn child on ‘natural’ parentage. Both Anna Johnson, as the delivering mother, and Crispina Calvert, as the genetic mother (she had provided the ovum), requested the recognition of their motherhood. In comparison with other similar cases, this latter case is interesting and typical because both mothers intended to evidence exclusive motherhood with the use of medical expert opinions. According to the expert opinion presented by Anna Johnson, natural parentage should be based on the physical contact and bond during pregnancy, development of the fetus in the womb and the delivery of the child. For Crispina Calvert, genetic identity lay in the core of professional argumentation. It is striking that the announcement of the human genome project immediately triggered legal claims on the basis of the DNA evidence worldwide. Even applicants over 60 years old renewed paternity claims with the aim to seek for their biological father by using the new DNA tests. DNA as a tool to establish or to challenge family ties within a reasonable time also appeared in several cases in front of the European Court of Human Rights, such as Mikulić v. Croatia,40 Szarapo v. Poland,41 Paulík v. Slovakia,42 or Jäggi v. Switzerland.43 When post-mortem DNA identification was raised in the case Estate of Kresten Filtenborg Mortensen v. Denmark44 the Court found that the private life of a deceased person from whom a DNA sample was to be taken could not be adversely affected by a request made after his death. Courts were, in general, receptive to these new DNA-based claims and recognized the uncovering of the biological truth about someone’s identity as an important aspect of the legally protected private life. In the establishment of the biological kinship personality rights can be clearly identified. When human biological tissues, including human DNA are collected, stored and used for research it is more difficult to establish the connection between the sample and the person.

International legal norms

In the field of biomedicine several special organizations within the United Nations adopted relevant legal declarations. UNESCO adopted three major declarations, two of them had specific content in the field of genetics: The Universal Declaration on the Human Genome and Human Rights,45 and the International Declaration on the Human Genetic Data.46 Article 4 of the International Declaration on Genetic Data grants a special status to the human genetic data because they can be predictive of genetic dispositions concerning individuals; furthermore they may have a significant impact on the family, including offspring, extending over generations, and in some instances on the whole group to which the person concerned belongs. Genetic data may contain information of which significance is not necessarily known at the time of the collection of the biological samples; and they may have cultural significance for persons or groups.47

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