‘Private fears in public places?’ Ethical and regulatory concerns regarding human genomic databases
2007; Future Medicine; Volume: 4; Issue: 4 Linguagem: Inglês
10.2217/17410541.4.4.447
ISSN1744-828X
AutoresBarbara Prainsack, David Gurwitz,
Tópico(s)Organ Donation and Transplantation
ResumoPersonalized MedicineVol. 4, No. 4 Special Focus: Ethical and Regulatory Concerns Regarding Human Genomic Databases - EditorialFree Access'Private fears in public places?' Ethical and regulatory concerns regarding human genomic databasesBarbara Prainsack & David GurwitzBarbara Prainsack† Author for correspondenceKing's College London, Centre for Biomedicine & Society (CBAS), Strand, London, WC2R 2LS, UK. & David GurwitzNational Laboratory for the Genetics of Israeli Populations, Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel. Published Online:3 Dec 2007https://doi.org/10.2217/17410541.4.4.447AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinkedInRedditEmail There is nothing fundamentally new about human DNA collections and databases. Human tissue and blood samples have been collected for various purposes by public and private organizations since the beginning of modern medicine [1,2], and biomedical research has a long tradition of handling and managing human bodily material for research as well as diagnostic and therapeutic purposes [3–7]. Despite this, over the last two decades, countless contributions [8–9] have dealt with the ethical and governance issues of medical DNA collections and databases, primarily addressing issues such as personal data protection, privacy, data access (including by donors themselves), ownership and commercialization [10–12], informed consent and withdrawal [13–14], as well as bioethical issues on a more theoretical level [15–18]. It seems that what we call the 'aggregation factor' – the fact that increasingly large numbers of human DNA sequences linked with personal medical records and/or other personal records or phenotypic information of the DNA donors are electronically stored, interlinked and made accessible to (potentially) a wide range of users – poses new legal, ethical and societal challenges. This could have concrete implications for the anonymity of the donor. For example, it has been suggested that as few as 75 statistically independent single nucleotide polymorphism (SNP) alleles could suffice for identifying an individual if the same SNPs are included in another database where they are linked with potentially identifying information (e.g., date of birth, zip-code of residence, cause and date of hospitalization and so on) [19–20]. Obviously, the possibility of re-identifying 'de-identified' (coded, or 'anonymized') human samples raises serious concerns on donors' privacy and potential harm from intended or accidental exposure of their identities. Thus, while the act of collecting human biological materials and related phenotypic information and storing it in a central place (or linked consortia repositories) is nothing new as such, the increasing prevalence and magnitude of so-called human biobanks as a resource for biomedical research, together with the availability of powerful computational tools and web-based search technologies, calls for a re-evaluation of the ethical and regulatory guidelines employed for running them.Simultaneously, state-run forensic DNA databases have received much attention recently, partly because their prevalence and magnitude are growing along with increased global terror fears. Until just a few years ago, the existence of large forensic databases would have seemed an Orwellian endeavour to many. However, the perceived threat stemming from globally organized terrorist groups – in combination with the results of popular media's focus on crime – has rendered the creation of surveillance and criminal investigation methods, including forensic DNA databases (each containing samples and information of hundreds of thousands or even millions of individuals), more acceptable to the public. Bioethics councils and watchdog groups, on the other hand, have questioned particular methods for collecting and storing samples and personal information by forensic databases (such as criteria for inclusion and indefinite storage and so on). In the UK, the Nuffield Council on Bioethics released a report on 'The Forensic Uses of Bioinformation: Ethical Issues' in September 2007 [101]. Although the report deals with human bioinformation in general (that is, DNA and other biological evidence as well as fingerprints) and not with DNA exclusively, it addresses many of the issues pertaining to large-scale DNA databasing, such as securing 'good governance' in terms of efficient ethical oversight; whom to grant access to the stored data and under which circumstances. For example, the report recommended that 'police should only be allowed to store permanently bioinformation from people who are convicted of a crime, with the exception of people charged with serious violent or sexual offences' – that is, profiles and samples of suspects for less serious crimes should not be permanently stored (unlike current practice in some countries, including England and Wales). Notably, the report also recommended that expert crime scene analysis should be given higher priority than focusing on the collection of subject samples [101]; this is especially important in a situation in which – partly due to the public hype regarding forensic DNA analysis – police face considerable pressure to carry out investigations as high-tech as possible, which might not always be the most promising way to achieve results.While these and other issues discussed in the Nuffield Report apply to forensic DNA databases specifically, others have already been discussed in connection with medical DNA databases. This raises the question of the similarities and differences between biomedical versus forensic DNA databases. Rather than examining all 'technical' aspects, we will briefly address some issues pertaining to the quest of societal needs for continued biomedical research, improved healthcare, state security and individual safety, whilst acknowledging the need for continued protection of human liberties, individual privacy and public interests of citizens in democratic states.Forensic & biomedical DNA databasesDifferencesMirroring the fact that the academic disciplines discussing ethical and governance issues of biomedical versus forensic DNA databases are relatively distinct from one another, let us start with the differences between these two types of databases. First of all, forensic DNA databases primarily store genetic profiles, not the physical DNA or tissue samples (although in many countries, physical samples are retained as well [101]). A stored genetic profile consists of a series of polymorphic alleles (typically 10–15), which could be unlinked SNPs or short tandem repeats, for example, a string of numbers indicating the number of repetitions for few short tandem repeats, of several polymorphic alleles. In addition, polymorphic Y-chromosome markers are often used for profiling males owing to relatively extensive knowledge collected regarding their frequencies in the population, thereby allowing more robust evidence in many cases. In theory, such information does not reveal anything about the individuals predispositions to medical conditions, ethnic background, or phenotypic traits such as height, skin- and haircolor. For this reason, most people agree that the storage of profiles is ethically less contentious than the storage of the DNA itself. However, it is plausible that in the future, certain genetic markers currently used for forensic purposes and considered 'neutral', would be found to be associated with phenotypic traits or disease-risk alleles.Furthermore, the phenotypic data stored in a forensic DNA database is typically limited to a small number of forensically relevant items (in the UK, the so-called 'datacard' contains only a person's name and gender) whereas in the context of biomedical DNA databases, the scope and depth of phenotypic information linked to a sample depends on the context of the study and can be quite large, even including comprehensive medical records of a person in the case of DNA databases handled by health providers. The phenotypic information accompanying biological information in biomedical DNA databases can be considered by far more 'sensitive' (regarding, for example, disease history and lifestyle factors) than publicly known characteristics such as a person's name and gender stored in a forensic DNA database. Yet, it is the possibility of a clear link between a sample (and the information derived from it) and an individual person which makes all the difference. This is of course the largest difference between biomedical and forensic DNA databases: the ends that they serve. Biomedical DNA databases, obviously, have been established as resources for research, diagnosis and/or treatment. While it is important to obtain reliable phenotypic information on certain characteristics of the individual donor (depending on the context of the database, it could be ethnic background, disease history, physical characteristics such as height, BMI and lifestyle factors), the link to an individual subject is not part of the operation (in longitudinal studies, it is crucial to know that samples collected over a number of years stem from the same individual; the identity of this individual is then only a means to an end: the ability to contact this individual, rather than an end in itself). In forensic DNA databases, on the other hand, linking the profile to an unambiguously identifiable particular individual is all it is about, and this poses a serious threat to a database if the possibility of identification is compromised owing to poor data quality [102]. This illustrates very clearly that considerations regarding privacy protection, for example, will have very different manifestations for biomedical versus forensic databases.SimilaritiesThere are, however, certain similarities between biomedical and forensic DNA databases which, in our opinion, have not received enough attention thus far. First, both necessitate a reconsideration of the concept of informed consent as we know it. An increasing number of medical research institutions, healthcare providers, and even governmental agencies are willing to admit that 'individuals no longer possess a reasonable expectation that their (medical) histories will remain completely confidential' [21,103]. This problem also pertains to forensic DNA samples and profiles through the possibility of laboratory workers seeing the information on accompanying datacards in the UK (but not in other countries where DNA is sent for analysis with no name attached) but also owing to so-called nonoperational uses of the forensic data stored. An example would be behavioral genetics research using samples from forensic DNA databases [101], which is currently either prohibited or not practiced in most countries. In addition, many DNA 'donors', both in the cases of biomedical and forensic DNA databases, are not (and cannot be made) aware of every potential future use of their sample and the information derived from it.The following two examples – one from each the biomedical and forensic realm – will demonstrate this claim. First, let us assume that Tony, a middle-aged male UK resident, donates a DNA sample for a population genetics database, which serves as a resource for disease association studies. The database is currently used for research on diabetes and hypertension, which Tony deems very laudable goals. However, in the future, the database might also use donors' samples for research on schizophrenia, which Tony opposes to for ideological reasons. How should Tony make this known? Can it be expected from the institution hosting the database to explain all possible future uses to donors at the time of giving consent? Should donors be allowed to note that they would like to see their sample used for all medical research with the exception of research into psychiatric conditions? How could such a model ever become operational [22]?Second, let us assume that Tony is a frequent visitor of his elderly neighbor's apartment in order to help with the shopping or simply to keep his neighbor company over a cup of tea. One day, the neighbor's apartment is burglarized and the neighbor is injured; police investigate the crime scene, which entails the securing of DNA samples in the apartment. Tony immediately volunteers to provide his own DNA as a so-called 'elimination sample'. What Tony might not be aware of, however, is that his DNA profile might be uploaded to the UK's National DNA Database (NDNAD) and used for speculative searches in the future. If a DNA matching Tony's profile ever turns up at a crime scene (for innocent or less innocent reasons), police will be able to identify him. Some would argue that this puts Tony at an inequitable disadvantage in comparison with other people whose DNA profile is not stored in the forensic police database. Moreover, in a further twist on the above scenario, maybe it would not be Tony's exact DNA profile that later appears on a crime scene, but rather, a very similar DNA profile, including a perfect match for his Y-chromosome markers, leading the police to suspect that the DNA found at the crime scene stems from a first-degree male relative of Tony (brother, father, son or paternal uncle). They interrogate these relatives and inquire about alibis (the method of 'familial searching' is legal in some countries and illegal in others; the basic principle is that if a profile derived from a crime scene DNA trace does not result in a 'full' match with a subject profile, it is used to search for partial matches to biologically related individuals). This way, Tony's altruistic and consented action of volunteering his DNA profile for the police forensic database could in the future expose some of his close family to being interrogated as potential suspects by police. This example also illustrates that the Nuffield Council's recent recommendations against the keeping of bioinformation records from persons not convicted of a serious crime are crucial. We concur with these recommendations of the Nuffield Council on Bioethics, which aim at preventing potentially significant human rights infringements for a minor (if any) benefit for public safety.The latter example, however, not only demonstrates some similarities between ethical and governance concerns related to both forensic and biomedical DNA databases, but it also points toward overlaps between the two: voluntarily donating a DNA sample for a biomedical database could, in theory, also have implications for close family members, including exposing them to potential risks through the loss of health insurance benefits. In addition, in contexts where bodily material is routinely taken and stored for clinical reasons (e.g., tumor tissue after a surgery), the identification of relatives for forensic purposes could occur [23].Private fearsThere is growing public unease about potential infringements of privacy and other individual rights stemming from large population databases containing sets of individual genetic information, be it linked to large phenotypic data sets or merely to personal identification in biomedical or forensic databases, respectively. This unease is fuelled by uncertainties about potential future uses of such databases, including Orwellian fears. Such fears are also reflected in contributions to the present issue of Personalized Medicine. We hope that the manuscripts included in this themed issue, authored by scholars in both biomedicine and forensic DNA collections and databases, will help to promote public discussion and clarification on the most important societal and ethical questions that we need to ask ourselves regarding the proliferation of large biomedical and forensic DNA databases. For example, do we need specific legislation and/or dedicated public oversight bodies (with public representation) concerning such databases and, in particular, for adding further uses for which no specific consent (and institutional review board approval) was originally obtained from the participating individuals? What other possible answers do we have to questions regarding the reconceptualization of informed consent? Furthermore, is legislation pertaining to data privacy protection a feasible way to prevent infringements on human rights?We chose the title of this special interest issue according to Alan Ayckbourn's play 'Private Fears in Public Places' (it was also the title of our special session at the Intelligent Systems for Molecular Biology (ISMB) conference in Vienna, July 2007) [104]. The play skilfully tells the story of individuals in continued search of love and meaningful human contact at the age of ever more powerful mass media which, absurdly, turns them ever lonelier [105]. Likewise, the increasing prevalence of large public databases and the uncertainty surrounding their potential future uses drives public fears and raises questions regarding their legitimacy in the era of the internet. We are already able to 'Google' our colleagues and often learn about their lifestyles – sometimes also about their political views – from web blogs. Will the day come when we are able to enter some of their DNA sequences into an interactive website and obtain insights into their cancer or diabetes risks, or worse, their mental disease risks? One of the volunteers of George Church (Harvard Medical School, MA, USA), whose Personal Genome Project (aimed at making volunteers' genotype plus phenotype information publicly accessible [106]) has received considerable media attention, is quoted as responding to such questions with that he would: 'rather have my genotype lack privacy than have people looking at my credit card records or what I've been searching on Google' [107].Last, but not least, the fact that we have chosen DNA databases as a topic of this Special Focus issue should not be seen as an implicit claim that genetic and genomic research poses a particular 'threat' to society or individuals. Infringements of privacy protection compared with other fields of biomedical research are probably not more, but less likely in connection with DNA databases, because much emphasis has been put on ethical conduct and oversight, and genetics is not a uniquely privileged way of obtaining insights into a person's character or future. Consider, for example, functional MRI brain scans or information on social status or personal wealth; in some contexts, individuals are granted or denied access to medical services according to their postcodes alone, such as where regarding in vitro fertilization (IVF) treatment in the UK [24]. Furthermore, genetic databases also contain phenotypic information; the standardization of phenotypes has so far received surprisingly little attention from the side of ethical, legal and social implications scholars. Owing to problematic science communication in the popular media [25], genetic research is prone to cause more societal unease and fears than other realms of medical research. We hope that recent insights in various '-omics' fields, as well as the focus on gene–environment interaction, will help towards reframing the public debate as one in which DNA is recognized as merely one amongst many factors making us who we are via interaction with scores of others. Neither 'nature' nor 'nurture' wins, but neither could exist without the other and research into how the two interact deserves our critical attention.AcknowledgementsWe would like to thank the GEN-AU program (www.gen-au.at) of the Austrian Federal Ministry of Science and Research for supporting our work in the context of this Special Focus issue. In addition, we thank our colleague Jeantine Lunshof for very helpful discussions and comments on the manuscript.Financial & competing interests disclosureThe authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties .No writing assistance was utilized in the production of this manuscript.Bibliography1 Cambon-Thomsen A: The social and ethical issues of post-genomic human biobanks. Nat. Rev. Genet.5,866–873 (2004).Crossref, Medline, CAS, Google Scholar2 Hansson MG, Levin M: Biobanks as resources for health. In: Biobanks as Resources for Health. Hansson MG, Levin M (Eds). Universitetstryckeriet, Uppsala, Sweden, 9–20 (2003).Google Scholar3 Lindberg BS: Clinical Data – a necessary requirement for realising the potential of biobanks. In: Biobanks as Resources for Health. Hansson MG, Levin M (Eds). Universitetstryckeriet, Uppsala, Sweden, 21–32 (2003).Google Scholar4 Hirtzlin I, Dubreuil C, Préaubert N et al.: An empirical survey on biobanking of human genetic material and data in six EU countries. Eur. J. Hum. Genet.11,475–488 (2003).Crossref, Medline, Google Scholar5 Holm S, Bennett R: Genetic research on tissues stored in tissue banks. ISUMA Canadian Journal of Policy Research2,106–112 (2001).Google Scholar6 Hilgartner S: Biomolecular databases: new communication regimes for biology? Sci. Commun.17,240–263 (1995).Crossref, Google Scholar7 Mayrhofer M, Prainsack B: Being a member of the club: the transnational (self-)governance of biobank networks. In: International Journal on Risk Assessment and Management, Special Issue on 'Inclusive Risk Governance'. Funtowicz S, Craye M (Eds). (In Press) (2008).Google Scholar8 Tutton R, Corrigan OP (Eds): Genetic Databases: socio-ethical issues in the collection and use of DNA. Routledge, London, UK (2004).Google Scholar9 Gottweis H, Petersen A: Biobanks: Governance in Comparative Perspective. Routledge, London, UK (2007).Google Scholar10 Knoppers BM: Biobanking: International norms. Journal of Law, Medicine & Ethics 33(1),7–14 (2005).Google Scholar11 Chadwick R, Wilson S: Genomic databases as global public goods? Res Publica10(2),123–134 (2004).Crossref, Medline, Google Scholar12 Austin M, Harding SE, McElroy CE: Monitoring ethical, legal, and social issues in developing population genetic databases. Genet. Med.5,451–457 (2003).Crossref, Medline, Google Scholar13 Hoeyer K, Olofsson B-O, Mjörndal T, Lynöe N: Informed consent and biobanks: a population-based study of attitudes towards tissue donation for genetic research. Scand. J. Public Health32,524–529 (2004).Crossref, Google Scholar14 Gulcher JR, Gudbjartsson KKH, Stefánsson K: Protection of privacy by third-party encryption in genetic research in Iceland. Eur. J. Hum. Genet.8,739–742 (2000).Crossref, Medline, CAS, Google Scholar15 Knoppers BM, Chadwick R: Human genetic research: emerging trends in ethics. Focus4,416–422 (2006).Crossref, Google Scholar16 Knoppers BM: Populations and genetics: legal and socio-ethical perspectives. Brill, Leiden, NL (2003).Google Scholar17 Salter B, Jones M: Human genetic technologies, european governance and the politics of bioethics. Nat. Rev. Genet.3,808–814 (2002).Crossref, Medline, CAS, Google Scholar18 Andorno R: Biomedicine and international human rights law: in search of a global consensus. Bull. World Health Organ.80,959–963 (2002).Google Scholar19 Lin Z, Owen AB, Altman RB: Genomic research and subject privacy. Science305,183 (2004).Crossref, Medline, CAS, Google Scholar20 Lowrance WW, Collins FS: Ethics. Identifiability in genomic research. Science317(5838),600–602 (2007).Crossref, Medline, CAS, Google Scholar21 Wynia MK: Breaching confidentiality to protect the public: evolving standards of medical confidentiality for military detainees. Am. J. Bioeth.7(8),1–5 (2007).Crossref, Medline, Google Scholar22 Helgesson G, Dillner J, Carlson J et al.: Ethical framework for previously collected biobank samples (letter to the editor). Nat. Biotechnol.25(9),973–975 (2007).Crossref, Medline, CAS, Google Scholar23 Butler D: Ghostbuster. Science445,811 (2007).CAS, Google Scholar24 Bungay H: Cancer and health policy: the postcode lottery of care. Social Policy & Administration39(1),35–48 (2005).Crossref, Google Scholar25 Condit CM: How geneticists can help reporters to get their story right. Nat. Rev. Genet.8,815–820 (2007).Crossref, Medline, CAS, Google Scholar101 Nuffield Council on Bioethics's Report on the forensic use of bioinformation: ethical issues (Cambridge, 18 September 2007). www.nuffieldbioethics.org/fileLibrary/pdf/The_forensic_use_of_bioinformation_-_ethical_issues.pdfGoogle Scholar102 Woolf M: DNA database chaos with 500,000 false or misspelt entries. The Independent (26 August 2007). http://news.independent.co.uk/uk/politics/article2896193.ece.Google Scholar103 Lichtblau E: Justice Department seeks hospital's record of some abortions. New York Times (12 February 2004). www.commondreams.org/headlines04/0212–02.htmGoogle Scholar104 Private fears in public places? Ethical and regulatory concerns regarding human genomic databases. ISMB/ECCB 2007 Special Session Programme. Vienna, Austria, 22 July 2007. www.univie.ac.at/transformation/GwB/ISMB/Google Scholar105 Private fears in public places. Review form the British Theatre Guide. www.britishtheatreguide.info/reviews/privatefears-rev.htmGoogle Scholar106 Personal Genome Project's website. http://arep.med.harvard.edu/PGP/Google Scholar107 Dizikes P: Gene information opens new frontiers in privacy debate. The Boston Globe (24 September 2007). www.boston.com/news/science/articles/2007/09/24/gene_information_opens_new_frontier_in_privacy_debate/Google ScholarFiguresReferencesRelatedDetailsCited ByPromising waste: biobanking, embryo research, and infrastructures of ethical efficiency13 January 2016 | Monash Bioethics Review, Vol. 33, No. 4Moments of Uncertainty: Ethical Considerations and Emerging Contaminants23 August 2013 | Sociological Forum, Vol. 28, No. 3Über "Moralapostel" und "smooth operators": Die Praxis der Bioethik im Feld eines österreichischen BiobankenprojektsKey issues in DNA profiling and databasing: implications for governanceForensic utilization of voluntarily collected DNA samples: law enforcement versus human rightsBeyond borders: trends and challenges in global forensic profiling and databasingLegislative and Ethical Questions regarding DNA and Other Forensic "Biometric" Databases Vol. 4, No. 4 Follow us on social media for the latest updates Metrics History Published online 3 December 2007 Published in print November 2007 Information© Future Medicine LtdAcknowledgementsWe would like to thank the GEN-AU program (www.gen-au.at) of the Austrian Federal Ministry of Science and Research for supporting our work in the context of this Special Focus issue. In addition, we thank our colleague Jeantine Lunshof for very helpful discussions and comments on the manuscript.Financial & competing interests disclosureThe authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties .No writing assistance was utilized in the production of this manuscript.PDF download
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