Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective (original) (raw)

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Author information

Author notes

1. Béatrice Godard
   Present address: Faculty of Law and Department of Social and Preventive Medicine, University of Montreal, Montreal, Canada

Authors and Affiliations

1. INSERM SC11, Hopital Broussais, Paris, France
   Béatrice Godard & Ségolène Aymé
2. Institute of Human Genetics, Hannover Medical School, Hannover, Germany
   Jörg Schmidtke
3. Center for Human Genetics, Leuven, Belgium
   Jean-Jacques Cassiman

Authors

1. Béatrice Godard
2. Jörg Schmidtke
3. Jean-Jacques Cassiman
4. Ségolène Aymé

Corresponding author

Correspondence toSégolène Aymé.

Appendices

Appendix A

International and national regulatory frameworks

Many policy statements address the storage of human genetic material when it is carried out in a clinical context principally for diagnostic purposes. Policy statements have begun to address DNA banking for research purposes more recently mainly because of the recognized value of banking human genetic material for the advancement of research. These policy statements do not specify any precise research use or any restrictions as to the types of research that can be conducted. These policy statements define the scope of informed consent extensively to ensure that individuals who provide samples are given the opportunity to make informed choices with respect to the possible uses of their stored samples. These policy statements attempt to recognize that respect for the rights of individuals and respect for human dignity constitute the ethical and legal foundations for excluding human tissues and cells as possible objects of commerce.20,50,62

International Organizations

• UNESCO, The Universal Declaration on the Human Genome and Human Rights, November 1997. Two articles of the present Declaration are fundamental regarding DNA banking. Article 1 recognizes both the individuality of the human genome and its shared character: ‘the human genome underlies the fundamental unity of all members of the human family, as well as the recognition of their inherent dignity and diversity’. Article 4 recognizes the principle of noncommercialization: ‘the human genome in its natural state shall not give rise to financial gain’. Although nonbinding to member nations, the declaration provides grounds for individuals within those nations to challenge laws that appear to run counter to the declaration.
• UNESCO International Bioethics committee, Report on confidentiality and genetic data, 1999. The report consists of five parts. The third part of the report deals more specifically with the principle of confidentiality as applied to genetic data. Although genetic data may be qualified as medical information, it should be brought under a specific framework inasmuch as it provides sensitive information not only about an individual but also about his family. This part also includes a detailed analysis of Article 7 of the Universal Declaration on the Human Genome and Human Rights according to which data must be ‘associated with an identifiable person and held confidential in the conditions set by law’.
• HUGO Ethical, Legal, and Social Issues Committee, Statement on the Principled Conduct of Genetic Research, 1996. HUGO considers the human genome as part of the ‘common heritage of humanity’. This principles has for consequence a ‘loss of access to discoveries for research purposes, especially through patenting and commercialization’. The Organization recommends that ‘undue inducement through compensation for individual participants, families, and populations should be prohibited. This prohibition, however, does not include agreements with individuals, families, groups, communities or populations that foresee technology transfer, local training, joint ventures, provision of health care or information infrastructures, reimbursement of costs, or the possible use of a percentage of royalties for humanitarian purposes’.
• HUGO Ethics Committee, Statement on DNA Sampling Control and Access, 1998. This statement reaffirm HUGO commitment to its position given previously in its Statement on the Principled Conduct of Genetic Research. ‘It maintains that respect for free and informed consent and choice as well as for privacy and confidentiality in the collection, storage and use of human DNA are the cornerstones of ethical conduct in research. It reiterates the importance of recognizing that the pursuit of scientific knowledge is essential to human progress and to the relief of human suffering. This pursuit must adhere to international norms of human rights. In the context of research involving human beings, the acceptance and upholding of human dignity and freedom require prior ethical review. Respect for individual values, familial needs and cultural differences as well as the possibility of withdrawal of consent to participate without prejudice are ethical prerequisites’.
• HUGO Ethics Committee, Statement on benefit Sharing, 2000. The HUGO Ethics Committee recommends: (1) that all humanity share in, and have access to, the benefits of genetic research; (2) that benefits not be limited to those individuals who participated in such research; (3) that there be prior discussion with groups or communities on the issue of benefit sharing; (4) that even in the absence of profits, immediate health benefits as determined by community needs could be provided; (5) that at a minimum, all research participants should receive information about general research outcomes and an indication of appreciation; (6) that profit-making entities dedicate a percentage (eg, 1–3%) of their annual net profit to health-care infrastructure and/or to humanitarian efforts'.
• The World Medical Association, Declaration on the Human Genome Project (WHO), Geneva, 1992. The recommendations emphasize the need to state general ethical and legal guidelines to prevent discrimination and the genetic stigma of the population at risk.
• The World Health Association, Proposed international Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetic Services, Geneva, 1997. While recognizing the individuality of the human genome, WHO emphasizes its familial basis: ‘DNA is both unique to an individual and shared by other individuals who are biologically related. Therefore, DNA should not be considered private property and control of DNA should be familial not individual’. (…) ‘DNA should be banked as long as it could be of benefit to living or future relatives or fetuses. Banked DNA could also serve public health purposes. As for stored pathological tissue specimens, they may be useful to families in the future’. (…) Existing stored specimens or samples, such as those in university or hospital departments should not be subject to new rules for consent or recontact that may be established in the future.

European Institutions

• Council of Europe, Recommendation R(81) 1 on Regulations for Automated Medical Data Banks, 1981. The following principles apply to automated medical data banks set up for purposes of medical care, public health, management of medical or public health services or medical research, in which are stored medical data and, as the case may be, related social or administrative data pertaining to identified or identifiable individuals (automated medical data banks). (1) Every automated medical data bank should be subject to its own specific regulations, in conformity with the laws of the state in whose territory it is established. The regulations of medical data banks used for purposes of public health, management of medical and health services, or for the advancement of medical science should have due regard to the pre-eminence of individual rights and freedoms. (2) The regulations should be sufficiently specific to provide ready answers to those questions likely to arise in the operation of the particular medical data bank. (3) Where a medical data bank combines several sets of medical records or subsystems of medical data, each of these elements may require separate supplementary regulations relating to its special features. And (4) The requirements and obligations following from this recommendation are to be taken duly into account not only with regard to medical data banks which are operational, but also those which are in the development phase.
• Council of Europe, Recommendation on the Collection of Epidemiological Data on Primary Health Care, 1989. This recommendation requires an express and informed consent to data collection even for epidemiological purposes.
• Council of Europe, Recommendation R (92) 3 on genetic testing and screening for health-care purposes, 1992. Council of Europe proposed principles for genetic information storage: ‘genetic information gathered during genetic testing and screening may be collected, processed, and stored only for the purpose of health care, diagnosis, disease prevention, and for research closely related to these matters’ (Article 8). But ‘samples collected for a specific medical or scientific purpose may not, without permission of the persons concerned or the persons legally entitled to give permission on their behalf, be used in ways which could be harmful to the persons concerned’ (Article 13).
• Council of Europe, Recommendation R (94) 1 on Human tissue Banks, 1994. The Recommendation states that (1) activities related to the banking of human tissue be divided into the following separate functions: organization; processing; preservation: internal quality control; storage; distribution. (2) These functions be carried out by non-profit-making institutions which are officially licensed by national health administrations, or recognized by the competent authorities. (3) Tissue banks store the tissue safely according to scientifically recognized state-of-the-art techniques and respecting the criteria established by general medical and laboratory practice. (4) Records of all tissues retrieved and issued be kept by the tissue banking organizations in such a way that their source and their destination are clearly identifiable, providing always that access to such records will be restricted to the extent necessary to protect confidentiality of information and individual privacy. (5) Close mutual cooperation be pursued by all officially recognized exchange and tissue banking organizations and that follow-up data on donor/recipient combinations should be shared between relevant institutions within the framework of national guidelines and legislation providing always that the privacy of the person concerned is fully respected.
• Council of Europe Parliamentary Assembly, Recommendation 1240 (94) on the Protection and Patentability of Material of Human Origin, 1995. According to Article 1, individuals may not be alienated (extra commercium) nor be appropriated (extra patrimonium): ‘Human beings are subjects not objects of law, that the human body is inviolable by virtue of its relationship to a person endowed with rights, and that limits must therefore be set to how it is used’.
• Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases. This Database Directive gives database builders specific protection – database rights – recognizing the work and costs entailed in compiling, verifying and presenting data.
• Council of Europe, Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine, Oviedo, 1997. The Convention sets out to preserve human dignity, rights and freedoms, through a series of principles and prohibitions. Six articles of the Convention should be considered in view of DNA banking: Article 5 which states a ‘voluntary and informed consent for any intervention in the health field’, with ‘limited exceptions for the protection of persons not able to consent to research’ (article 17), while Article 3 mentions ‘the possibility of freely withdrawing consent at any time’. Article 11 covers uses of genetic information. As for the uses of samples, Article 22 provides that ‘when in the course of an intervention any part of a human body is removed, it may be stored and used for a purpose other than that for which it was removed, only if it is done in conformity with appropriate information and consent procedures’. Finally, Article 21 states that ‘the human body and its parts shall not, as such give rise to financial gain’. The Convention is the first internationally binding legal text designed to protect people against the misuse of biological and medical advances. This text has legal effect in the Council of Europe's member States that have ratified it. Each state then has to bring its laws into line with the Convention. Belgium, Germany, Ireland, and the United Kingdom have not (yet) signed the Convention and it is not in force until it is signed and implemented into the national law.
• Council of Europe, Recommendation R (97) 5 on the Protection of Medical Data, 1997. Article 6.1 stipulates that ‘where the data subject is required to give his/her consent, this consent should be free, express and informed’. Article 12.1 states that ‘whenever possible, medical data used for scientific research purposes should be anonymous. Professional and scientific organizations as well as public authorities should promote the development of techniques and procedures securing anonymity’. ‘Subject to complementary provisions determined y domestic law, health-care professionals entitled to carry out their own medical research should be ale to use the medical data which they hold as long as the data subject has been informed of this possibility and has not objected’ (Article 12.3).
• European Commission, Directive of the European commission to the European Parliament Concerning the Legal Protection of Biotechnology Inventions, 1998. The Directive on the Legal Protection of Biotechnological Inventions came into force on 30 July 1998. It obliges the Member States of the European Community to amend their laws into conformity with the provisions of this Directive by 30 July 2000.

The Recitals in the first part of the Directive set out the legal and historical background and may be used in interpreting the articles. Important provisions of the Articles of the Directive are summarized below:

Article 2 sets out definitions of the terms used in the Directive. Article 3(2) of the Directive explicitly allows protection for biological material isolated from its natural environment or produced by means of some technical process, even if this material was previously known in nature. Article 6(2) provides specific exclusions for inventions whose exploitation would be contrary to ordre public or morality. Under Article 7, the European Commission's European Group on Ethics in Science and New Technologies will have responsibility for evaluating all ethical aspects of biotechnology. The Directive excludes patents for the human body and the ‘simple discovery’ of an element (for example, the full or partial sequence of a gene), but states that such an element, provided it has been isolated, may constitute a patentable invention (Article 8). The industrial application of a sequence, whether full or partial, must however be ‘disclosed in the patent application’. This Article reassures that the Directive explicitly allows protection for isolated elements. Current European law provides that the disclosure in a patent application encompasses both explicit and implicit elements. The protection for a product containing or consisting of genetic information is extended by Article 9 to all material in which the product is incorporated and in which the genetic material is contained and performs its function.

• European Group on Ethics in Science and New Technologies, Ethical Aspects of Human Tissue Banking, 1998. Article 2.2 requires that ‘information be given on the potential use of the given tissues (clinical use, production of cell lines, research) and on the potential benefits (industrial use and patents). The consent should specify the will of the donor to be informed or not of unexpected findings concerning his (her) health by analysis of the given tissue. The consent should also point out the impossibility for the donor to claim any benefit resulting from the use of his (her) tissue, even if commercial applications occur’.
• Council of Europe, Recommendation 1512: Protection of the Human Genome, 2001. The Council of Europe's Parliamentary Assembly notes that the human genome international research project, in view of the numerous and unimaginable consequences that it might have for medicine, conjures up scenarios for all humanity that raise numerous ethical questions, while holding out the promise of enormous improvements in the quality of life. The protection of human dignity should be the guiding principle for the handling of the Human Genome Project. (…) The Assembly is fully aware of the now well-known fact that laboratories, with their associated databanks, are already actively at work on DNA separation in certain European countries and enjoy the financial support of prominent pharmaceutical companies. The Assembly is also aware that substantial economic interests are at stake in the Human Genome Project, by virtue of the very fact that it might hold out incalculable opportunities for preventing illness and improving treatment, as it involves many public and private research centres to which considerable financial resources will be allocated.

The Assembly calls, inter alia, through the establishment of a Euroforum on Human Genetics, for the widest possible participation by citizens in the discussion on the human genome through the involvement of the European media and suitable and accurate information by the Council of Europe.

European countries

Austria

• The Gene Technology Act, 1994. This Act regulates work with genetically modified organisms, the release and marketing of genetically modified organisms, and the use of genetic testing and gene therapy in humans. Gene analysis, as it is defined in this Act, comprises molecular biological investigations of human chromosomes, genes or DNA segments for the identification of disease-causing mutations. Such examinations are allowed only for research or medical purposes. According to this act, laboratories where genetic tests for the diagnosis of a predisposition or for the identification of a carrier status of inherited diseases are performed, have to be accredited by the competent authority.

Belgium

• Law of 8 December 1992 safeguarding privacy compared to the processing of personal data. This law has been changed by a law of 11 December 1998, but this latter has not yet entered into force. This law stipulates that it is sometimes allowed to process data concerning a certain disorder of the person concerned in order to treat the relative of this person.

Denmark

• Filing of patient data is regulated by law. Patients must give informed consent for anybody to take part of the information.
• Danish Council of Ethics, Protection of Sensitive Personal Information – A Report, Copenhagen, 1992.
• Danish Council of Ethics, Ethics and Mapping of the Human Genome, Copenhagen, 1993. The publication contains three separate reports: protection of sensitive personal information; genetic screening and its ethical aspects; and finally, a section on genetic testing, which includes a copy of a bill that would forbid genetic testing in the workplace and in insurance underwriting. The Council views genetic information as different from other private information since it reveals knowledge not only about an individual, but also the individual's relatives, and because analyses will provide comprehensive information about both individuals and population groups.
• Law No. 286 of 24 April 1996 on the use of health information.
• Danish Council of Ethics, Health Science Information Banks – Biobanks, Copenhagen, 1996. The Danish Data Surveillance Authority has jurisdiction over biobanks, which must be registered.

Estonia

• Estonian Genome Foundation, Human Genes Research Act, 2000. The objectives of this Act are to regulate the establishment and maintenance of the Gene Bank, to organize the genetic research necessary therefor, to ensure the voluntary nature of gene donation and the confidentiality of the identity of gene donors and to protect persons from misuse of genetic data and discrimination based on an interpretation of the structure of their DNA and the genetic risks arising therefrom.

Finland

• Acts and Decrees Concerning Protection of Personal Data and Confidentiality of Medical Data, 1987. The Personal Data Files Act contains the right to know whether a file includes data about him/herself, the right to demand and in most cases get such information from a file keeper, the right to require the correction of incorrect information on a file concerning him/herself, the right to be informed of the source of information regarding him/herself, how that information is used and to whom that information is given.
• Medical Research Act, 488/1999. The act regulates medical research carried out on persons, human embryos and human foetuses. Medical research on persons may not be conducted without the research subject's informed consent in writing. Exceptions to this may be made where consent cannot be obtained owing to the urgency of the matter and the patient's state of health and the measure is expected to be of immediate benefit to the patient's health. Research subjects shall have their rights, the purpose and nature of the research and the procedures it involves as well as the potential risks properly explained to them.
• Personal Data Act, 523/1999. The Personal Data Act regulates that personal data may be processed for purposes of scientific research (1) if the research cannot be carried out without data identifying the person and the consent of the data subjects cannot be obtained owing to the quantity of the data, their age or another comparable reason; (2) the use of the personal data file is based on an appropriate research plan and a person or a group of persons responsible for the research have been designated; (3) the personal data file is used and data are disclosed therefrom only for purposes of scientific research and the procedure followed is also otherwise such that the data pertaining to a given individual are not disclosed to outsiders; and (4) after the personal data are no longer required for the research or for the verification of the results achieved, the personal data file is destroyed or transferred into an archive, or the data in it are altered so that the data subjects can no longer be identified.

Regardless of secrecy provisions, everyone shall have the right of access, after having supplied sufficient search criteria, to the data on him/her in a personal data file, or to a notice that the file contains no such data. There is no right of access if providing access to the data would cause serious danger to the health or treatment of the data subject or to the rights of someone else or if the data in the file are used solely for scientific research or statistical purposes. If only part of the data on a data subject is such that it falls within the restriction on the right of access, the data subject shall have the right of access to the remainder of the data.

The Personal Data Act contains also provisions on data security and storage of personal data.

• The draft bill on medical use of human organs and tissues, 2000. The draft includes provisions on informed consent of the donor of organ or tissue for transplantation or other medical purposes. It will regulate the medical use of organs and tissue removed for diagnosis or treatment of the patient. Collection and storage would require written and informed consent which can be withdrawn at any time before the tissue is used. The units which remove, use or storage organs or tissues must have a register for the safety and traceability of organs and tissues and for the purposes of legal surveillance of their actions if the organs are used for transplantation. The registers would include identifying information of the donor and the patient.

If an organ or tissue cannot be used for the purpose it was removed, collected or stored for, it may be used for another justified medical purpose with the consent of the donor.

Tissue samples taken in connection of care or diagnosis may be used for medical research with the consent of the patient. The National Authority for Medico-legal Affairs would be able to grant a license for research use if the consent could not be obtained owing to the quantity of the samples, their age or another comparable reason. A license could also be granted for a new research of samples that have been collected for research if the donor has died. Samples that do not contain identifying information could be used for medical research with the authorisation of the health-care unit for which the samples were taken. The samples could be used for the purpose of detecting hereditary disease of a relative only with the consent of the donor. The samples could be used for detection of paternity if asked by a court or a competent authority.

The act would prohibit financial gain. No fees could be paid to the donors. The health-care units involved may not seek for financial gain but would be able to get their costs paid by another health-care unit.

France

• National Consultative Ethics Committee for Health and Life Sciences, Opinion on medical registries for epidemiological and preventive studies, Paris, 1985. The Committee recommended that (1) collecting and processing of nominative information with the object of epidemiological research, and the expectation of better individual and collective medical prevention must be subordinated to specific conditions, (2) collecting and processing nominative medical information must be carried out in compliance with all articles of law no. 78–17 of 6 January 1978 on computerized information, records, and liberties, (3) legislation must be passed, (4) once attending physicians have given due warning of risks incurred and means of averting them, those concerned must remain entirely free to draw their own conclusions, and (5) so as to be confident that collecting and processing of nominative information by accredited organizations takes place in irreproachable moral and technical conditions which are worthy of the trust of those concerned, it is necessary and urgent to educate and train physicians.
• National Consultative Ethics Committee for Health and Life Sciences, Opinion on problems arising because of the development of methods using human cells and their derivates, Paris, 1987. The Committee reiterates the principle that products of human origin are without price and therefore can neither be bought nor sold.
• Law No. 88-1138 of December 20th on the protection of persons accepting biomedical research, 1988 (Huriet–Sérusclat Law) (revised 25 July 1994). For research, the law gives a detailed description of information provided so that a person's consent can be considered to be truly informed.
• National Consultative Ethics Committee for Health and Life Sciences, Opinion regarding the application of genetic testing to individual studies, family studies and population studies (problems related to DNA ‘banks’, cell ‘banks’ and computerisation), Paris, 1991. DNA banks necessarily require computerized recording of personal data concerning donors of cells stored in the bank. Consequently, all the rules which apply to keeping and using medical registers also apply jointly to the DNA banks themselves and to the recording of data which unavoidably follows. These rules were defined in the Opinion published by the Committee on May 6th 1985, and in various other Opinions which clarified and complemented it. They are as follows: (1) Registers are to be kept only by a small number of centers approved by a public authority and in accordance with all the necessary scientific and ethical safeguards. The same principle should apply to DNA banks. (2) To meet the need for medical confidentiality centers keeping registers are to be placed under the responsibility of a physician who agrees to consider himself a consultant in his dealings with other practitioners who supply the information which is recorded. He is of course bound by the rules of medical confidentiality and should give these practitioners his views regarding the diagnosis and the therapy to be applied to the case for which information is provided. (3) The law dated January 6th 1978 on Computerization, Records and Liberties stipulates that any interested party: (a) will be duly informed of his right to oppose the dissemination of information (and consequently also the DNA sampled) about himself, will not have stated his opposition and, in practice, will have given written consent to such dissemination; (b) will have access at any time to the recorded information, through a physician of his choice; (c) will have been advised of his right to ask that the information concerning himself be deleted from the records, if he has a serious reason to do so, and therefore that his DNA be removed from the bank. (4) The Committee feels it is not qualified to pronounce an opinion on whether sampling and transmission of human cells to a DNA bank, and the resultant recording of personal data in a register, is covered by the law dated 20 December 1988, modified on 20 January 1990, which stipulates that an investigator, before undertaking research on human beings, should submit the project to a Consultative Committee for the protection of subjects in biomedical research, located in the region of the investigator's activity. (5) It should be prohibited for any third party, particularly employers or insurance companies, not only to have access to the information contained in a register, therefore in a DNA bank, which is already implied by the above rules, but also to ask the subject to supply information about himself, contained in the DNA bank.
• Law No. 94-548 on the processing of nominative data with the objective of research in the health field, and amending Law No. 78-17 of 6 January 1978 on informatics, personal card-indexes, and freedom, 1994. The aims of this law is to give a legal basis to the development of epidemiological studies.
• Law No. 94-653 of 29 July 1994 on respect for the human body (Law of Bioethics). This law modifies the Civil Code by introducing notably the notions of the fundamental right to respect for one's body, therapeutic necessity as the only acceptable reason for violating bodily integrity and this only if the individual has consented (in particular articles 16-10 and 16-11).
• Law No. 94-654 on the donation and use of elements and products of the human body, medically assisted procreation, and prenatal diagnosis, 1994 (Law of Bioethics). This law includes principles applicable to the donation and use of elements and products of the human body. Article L. 145-15 states that the examination of the genetic characteristics of a person or his identification by genetic fingerprinting, when such identification is not carried out as part of a legal procedure, may only be undertaken for medical purposes or for scientific research and after having obtained the consent of the person concerned. The cytogenetic and biological analyses must be carried out in authorized establishments.
• Ministry of Higher Education and Research, Report of the Study Group on the Intellectual Protection of the Results of Research on the Human Genome, Cell Collection, and DNA Sequence Data, Paris, June 10, 1994. This report based its recommendations on the principle of ‘nonproprietorship of the elements and products of the human body’. Hence, not having any property rights in body parts, individuals should ‘donate’ such substances and would be protected through consent procedures. In addition, this report clearly denied to every person involved in the collection of samples (donor, investigators or promoters), any proprietary rights in the material although the promoter (granting agency) would have other rights with respect to the collection.
• National Ethical Consultative Committee for Health and Life Sciences in France, Genetics and Medicine: From Prediction to Prevention, Paris, 1995. The recommendations cover the following topics and ethical principles: respect of the autonomy of the subject, respect of medical confidentiality; respect of privacy in computerizing personal data; the use of biological samples; the prohibition of using results of genetic tests for purposes other than medical or scientific; procedures of accreditation of the materials involved in genetic testing; prior evaluation of the impact of the tests; information and formation of all medical personnel in genetics; the need to guarantee correct public information; prohibition of all uses that would contribute to stigmatisation or unfair discrimination in the social and economic spheres.
• Ordinance N. 96-452 of 28 May 1996 laying down various measures of a health-related, social, and statutory nature, 1996. This ordinance mandates that ‘no person may take samples with a view to constituting a collection of human biological specimens, or use, to this same end, samples already taken or derivatives thereof if he has not notified the competent administrative authority of the proposed collection’.
• National Ethical Consultative Committee for Health and Life Sciences, Re-examination of the law on bioethics, Paris, 1998. Article 21 of law no. 94-654, dated 29 July 1994, provides for re-examination by Parliament no later than 5 years after the law's entry into force. This clause is inspired by the fact that the law's scientific foundation is in a permanent state of evolution so that it is advisable to consider possible consequences of this fluctuation on the state of law.

Concerning DNA collections, they should be:

• Free, express, and informed consent given by persons from whom biological samples are taken for the purpose of genetic study;
• Instigators of a research procedure using biological samples must inform the persons concerned of what happens to those samples once research has ceased;
• If a different scientific purpose from the one for which consent was given using samples taken and associated identifying and nominal data, renewed consent must be secured;
• In cases where instigators of research abandon the project as far as they themselves are concerned, they must inform the persons concerned of any modifications in the conduct of research procedures as a consequence of their decision to abandon;
• Researchers working on samples from collections must make sure that the best interests of persons contributing samples are protected, in particular as regards preserving samples which could become necessary at a later date for diagnostic testing on themselves or their families;
• Individual samples and collections of samples may not be bought, sold, or patented;
• Collections could be managed by national or international organizations according to the principle of authorised collections on the basis of rigorous respect of ethical principles;
• In any event, instigators of such collections must receive approval from appropriate authorities;
• Parliamentary Office for Evaluating Scientific and Technological Choices, Report on the application of the law of 29 July 1994 concerning the donation and use of elements of the human body, medically assisted procreation and prenatal diagnosis, 1999. This report will serve as the basis for the parliamentary discussion scheduled for the second semester of 2000.
• Decree no. 2000-570 dated 23 June 2000 fixing the conditions of prescription and implementation of genetic characteristics and genetic identification investigations of a person for medical reasons and modifying the Public Health Code. This decree fixes five conditions for prescribing and implementing genetic testing for medical purposes: (1) condition of prescription; (2) condition of approval from appropriate authorities both for clinicians and laboratories; (3) conditions of reporting results; (4) conditions of medical record protection; and (5) approval from the National Consultative Commission created for this purpose.

Germany

• If the banking of human genetic material includes the collection and storage of personal data associated with an identifiable person, the Data Protection Law has to be taken into account. The German Data Protection Law is very complex, since the applicable law depends on the status of the data collecting and storing institution (public, private, federal, state), it contains different permissions for collecting, storing, using, transferring for own or for other purposes and there are numerous exceptions in other laws. The Data Protection Laws are subsidiary towards these special provision in certain areas (Simon, personal communication).
• Federal Data Protection Law (BDSG) 1990. Non public DNA banks, which process personal data have to take into account the Federal Data Protection Law if data are processed into or out of file commercially or for professional or commercial purposes (Section 1 II No. 3, BDSG). The processing of personal data and their use is only allowed if there is a legal permission or a consent of the affected person (Section 4 BDSG). In accordance with the Section 28 I, No 4, the transmission of personal data is permitted if it is necessary for scientific research. This permission does not apply for medical data in accordance with Section 39 of the Federal Data Protection Law.
• Data Protection Law of the states. The application field of the data protection laws of the states include all public authorities of the respective states. They have to be applied in public hospitals or the state or the municipalities. The University hospitals are either non-self-maintained public state institution or state companies with restricted independence. If these institutions bank identified or identifiable human genetic material, they have to take the state data protection acts into account. These laws are subsidiary towards special data regulation in law, specific for certain areas, for example the hospital laws.
• Law of 20 June 1990 to regulate matters relating to gene technology. The aims of this law are: (1) to protect life and health of human beings, animals and plants against possible threats of gene technology, and (2) to give a legal framework for research, development and support of scientific, technical and economic possibilities of gene technology.
• The German Bundestag, Chancen und Risken der Gentechnologie Enquete-Commission, 1987.
• Resolution of the Conference on the Privacy of Information of Rheinland–Pfalz on the Subject of Gene Analysis and Informational Self-Determination (26–27 October 1989).
• The Federal and State Governments, Final Report of the Bund–Länder–Arbeitsgruppe Genomanalyse, 1990.
• Minister of Research and Technology, Arbeitskreis Genforschung Report, Frankfurt, 1991.
• German Parliament, Periodic Report of the Büro für Technikfolgen, 1992, 2000.

Greece

There are no specific regulations in place regarding DNA banking.

Hungary

There are no specific regulations in place regarding DNA banking.

Iceland

• Act no. 121/1989 on Personal Privacy and Data Protection, Ministry of Health, 1989. The implementation of the Data Protection Act is monitored by the Data Protection commission, a special independent official agency, appointed by the Minister of Justice for a period of Four years. The commission has an important role both as a standard setting and a monitoring body.
• Act no. 74/1997 on the Rights of Patients, Ministry of Health, 1997. This Act includes fundamental rights of patients including rules on consent, confidentiality and handling of information in clinical records. This Act stipulates that in order to use material or information from patients for research, they must have given an a priori written informed consent.
• Act no. 139/1998 on a Health Sector Database, 1998. See Section IV, 4.2.
• Act on Protection and Handling of Personal Information, Ministry of Health, 2000. This Act supercedes the Personal Privacy and Data Protection Act (121/1989).
• Act on Biobanks no. 110/2000. ‘The objective of the Act is to authorize the collection, keeping, handling and utilization of biological samples from human beings, in such a way that confidentiality is ensured, the interests of donors of biological samples is safeguarded and that the utilization of the biological samples serves the purposes of science and medicine, and is conducive to the public good. The interests of science and of the community shall never be given priority over the interests of the donor of a biological sample. It is prohibited to discriminate against a donor of a biological sample on the grounds of data derived from a biological sample’ (Article 1).

Ireland

There are no specific regulations in place regarding DNA banking.

Italy

• Law no. 675, 31 December 1996, D.P.R. n. 318, 28 July 1999, on Medical Information Privacy.
• The Italian Committee on Bioethics, Orientamenti bioetici per i test genetici, 19 November 1999. Genetic information must be treated as the general medical information and therefore it is forbidden to give this information to third parties without consent.

Norway

There are no specific regulations in place regarding DNA banking.

Portugal

The Ratification of the ‘Convention for the Protection of Human Rights and Dignity of the Human Being and the additional protocol on the prohibition of cloning human beings’ was published in January 2001. Some guidelines prepared by a task force were also published by the Ministry of Health. These guidelines are concerned with the ethical and professional rules on genetic testing and prenatal diagnosis namely confidentiality, genetic counseling and genetic testing of children.

• Act No 10/1995 related to the Protection of Personal Information.
• The National Ethics Committee, Report on the draft bill regulating the therapeutic use of human-origin biological products and of biotechnology, 1998.
• Convention for the Protection of Human Rights and Dignity of the Human Being and the additional protocol on the prohibition of cloning human beings, 2001.

Spain

There is no specific legislation to ensure the appropriateness of genetic procedures and the confidentiality of personal data. Consent to undergo to any medical tests is granted through General Health Law of 25 April 1986. Protection of data related to health may be reached through general rules concerning personal data protection, as well as through provisions which recognise the duty of confidentiality in the health field.

• The Organic Law regulating the automated processing of personal data of 29 October 1992. The Organic Law regulating the automated processing of personal data of 29 October 1992 provides special measures of protection for personal health data (Articles 7.3 and 8).
• The Organic Law regulating the automated processing and protection of personal data of 13 December 1999. This law includes automated data and any type of personal data.

Sweden

• Data Storage in Health Care Act (1985:562). This act addressed patients personal files. Files are confidential and patients must give informed consent to anybody who wants to consult this information.
• Law no. 114 of March 1991, on the Use of Certain Gene Technologies within the Context of General Medical Examinations (1993). The study of human genetic codes by analyzing genetic DNA requires special permission if it constitutes or forms part of a screening program. Questions relating to permits are decided by the National Board of Health and Welfare. The requirement of permits is defined by statute.
• The Personal Data Act (1998:204). The purpose of this Act is to protect people against infringement of their privacy through the processing of personal data. The Act supersedes the 1973 Data Act. Both Acts will apply for a transitional period until 1st October 2001. The Personal Data Act (PDA) is based on common rules adopted within the European Union, in the form of the directive on Data Protection. The Act applies to processing of personal data as is wholly or partly automated and also to manually compiled personal files. Purely private processing of personal data is excluded. Exemptions are also made in deference to the principle of public access to official documents and to the freedom of the press and freedom of expression. In addition, the Medical Registers Act (1998:544) and special provisions of other enactment take precedence over the provisions of PDA.

PDA defines basic stipulations concerning the processing of personal data and indicates when processing is permitted. Specially restrictive provisions apply concerning the processing of sensitive data. The Act is to a great extend based on the consent of the registered person. It also contains provisions on information to the persons registered, on the rectification of personal data and on security in processing.

• National Board of Health and Social Welfare, Genetics and Genetechnology in Health Care. State-of-the-Art and Guidelines for Ethical Considerations, 1999.
• Medical Research Council, Research ethics guidelines for using biobanks, especially projects involving genome research, Dnr 1999-570. The Swedish Medical Research Council has adopted research ethics guidelines fur using biobanks, regardless of whether the samples are collected as a component of routine medical care or for previous or current research purposes.
• Proposed Act concerning Biobanks in Medical Care etc., 2000. The Medical Research Council has requested that the Ministry of Education and the Ministry of Health and Social Affairs appoint a commission to review existing legislation and its application in these special issues. The handling of human material in activities closely associated with health and medical care such as evaluation and quality assurance are important to consider and should be dealt with the National Board of Health and Welfare. In May 2000, a review has been presented. The main purpose is to make important knowledge obtainable from biobanks in medical care available for research, care and treatment, whereas its use must not imply harm to the individual person, genetic relatives or their personal integrity.

Switzerland

• The Swiss Federal Constitution, 1992. Article 119 (introduced in 1992 as article 24novies, old numbering) paragraph 2 states that the genetic heritage of an individual may be analyzed, registered or divulged only with his consent or on the basis of a legal prescription.
• The Swiss Academy of Medical Sciences, Medical–ethical Guidelines for Genetic Investigations in Humans, Approved by the Senate of the Swiss Academy of Medical Sciences on 3 June 1993. The medical–ethical guidelines define the spectrum of activities belonging to genetic services in general. Quality control standards exist for laboratory investigations. The Swiss academy of Medical Sciences guidelines are not legally binding, unless cantonal legislation gives them binding force.
• Bill regarding Genetic Investigations in Humans, September 1998. This bill has not yet been debated in Parliament.

The Netherlands

Patients data protection is regulated by law and quality control has been implemented.

• The Data Protection Act, 1984. This act provides for the registration and supervision of data users. The Data Protection Act 1998 will come into force shortly and supersedes the 1984 Act. The new Act includes personal information held in paper filing systems as well as computers.

Personal data used for research purposes is exempted from the Act if the purpose of the research is not measures or decisions targeted at particular individuals and it does not cause substantial distress or damage to a data subject. This means that under the Act personal data used in this kind of research can processed for purposes other than that for which it was originally obtained and be held indefinitely. Individuals do not have a right to be told how information is being processed if that data is anonymous.25

• The Health Council of the Netherlands, Heredity: Science and Society, The Hague: Health Council of the Netherlands, 1989. The Council recommended that written agreements should be made at the time of collection of samples setting out the specific rights of the donor, including, time of storage, use of material, confidentiality, withdrawal of consent, etc.
• The Health Council of the Netherlands: Committee on Human Tissue for Special Purposes, Proper Use of Human Tissue, The Hague: Health Council of the Netherlands, 1994. The Council introduced ethical principles for the prospective use of removed tissue: human material cannot be stored ‘without a good reason’. Although the Health Council did not take an explicit position on the legal status of human tissue, it did state that individuals have the right to determine what happens to identifiable material as a ‘personal right’. Moreover, in commenting on its earlier 1989 report, it reiterated that ‘should exceptional cases arise in which cell material is identifiable, then the principle of non commercialism means that the ‘donor’ has no claims to any revenue that may be earned’.

The United Kingdom

• Clinical Genetics Society, Guidelines for DNA banking, 1989. The main indications for banking are for clinical diagnosis. Banks also constitute a resource for genetics research; banking should then be available for ‘any single gene disorder for which there is a consensus among professionals providing banking services that DNA banking should be provided’.
• House of Commons Select Committee on Science and Technology, Human Genetics: the Science and Its Consequences, Third Report, HMSO, 1995. This report examines the ethical issues arising from genetic technology and recommends the setting up of a Human Genetics Commission to regulate the advance of genetic technology.
• Nuffield Council on Bioethics, Human Tissue: Ethical and Legal Issues, London: Nuffield Council on Bioethics, 1995. The report states that there is an important and urgent need to consider, clarify and, where necessary, strengthen the ethical and legal framework within which the clinical and research uses of human tissue take place. The ethical issues relate directly to the core of respect for human beings, namely that they and their bodies should not be injured and that nothing should be done to them and their bodies without their consent. The legal status of human tissue is unclear. The limitations of the existing framework of legal and professional regulation point to the conclusion that a coherent approach is needed to any further regulation. That approach will not necessarily require legislation; given the pace of change in biomedical research, a more rapid and flexible approach to regulation may be preferable. But the need to clarify the law is important insofar as its uncertainty may impede legitimate treatment, teaching, study or research or even, at worst, may encourage illegitimate uses of human tissue.
• The Advisory Committee on Genetic Testing, Advice to Research Ethics Committees, 1998. The ACGT provides Research Ethics Committees with guidance in the form of a ‘Points to Consider’ document intended to help committees identify the questions that they might raise with researchers. Issues that Research Ethics Committees may wish to consider before giving ethical approval to research that includes genetic testing are: (1) research and service interface; (2) disclosure of research findings; (3) use of stored specimens for further research; (4) multiple genetic testing; and (5) research involving ‘at risk’ individuals and their families.
• Genetic Interest Group, Confidentiality Guidelines, London, G.I.G., 1998. These guidelines deal with individual confidentiality in medical genetics: the sharing of genetic information within families and between professional clinical geneticists.
• The Data Protection Act, 1998. This act aims to protect the personal information contained in medical records.
• Royal College of Physicians Committee on Ethical Issues in Medicine, Research based on archived information and samples, 1999. In 1996, the College published Guidelines on the Practice of Ethics committees in Medical Research involving Human Subjects (3rd edition) which includes a section on non intrusive research. The recommendations published in 1999 are intended to clarify the issues surrounding this category of research as they relate to consent to the use of archived information and samples.
• Medical Research Council, Human Tissue and Biological Samples for Use in Research, Report of the Medical Research Council Working Group to Develop Operational and Ethical Guidelines, 1999. This report draws attention to the ethical, legal and practical issues that should be considered when making and using collections of human biological material for research, and recommends best practice to ensure that such collections can be used optimally to increase scientific understanding for the benefit of human health. Guidelines developed into this report should be followed by (1) those preparing research proposals for support by the MRC that include the collection of samples of human biological material, (2) Those planning, undertaking or collaborating in research funded by the MRC using existing collections, whether the collections were made by themselves or by others, and (3) Those managing collections of human materials made with MRC funding, or research using such collections.
• Medical Research Council, Human Tissue and Biological Samples for Use in Research, Operational and Ethical Guidelines, 2001. It is stipulated that the following principles should guide all MRC funded research using samples of human biological material: ‘samples of human biological material obtained for use in research should be treated as gifts; the human body and its parts shall not, as such, give rise to financial gain; informed consent is required from the donor whenever a new sample is taken wholly or partly for use in research; patients should always be informed when material left over following diagnosis or treatment might be used for research; all research using samples of human biological material must be approved by an appropriately constituted research ethics committee; researchers should treat all personal and medical information relating to research participants as confidential; research participants have a right to know individual research results that affect their interests, but should be able to choose whether to exercise that right’.
• House of Lords' Select Committee on Science and Technology, Human Genetic Databases: Challenges and Opportunities, 2001. This report is about the opportunities and challenges arising from the use of human genetic databases. These are set to become valuable tools in developing a full understanding of the effects of genes and their variations. Regarding databases, it is recommended that ‘the HGC and Government should conclude that the primary means of regulating human genetic databases should continue to be the Data Protection Act 1998 and that, except as recommended in paragraph 7.58, no additional protection is required for personal genetic data. (Paragraph 3.17)’.

Regarding consent, it is recommended that ‘the HGC and the Government should promulgate guidance for all those who collect or hold genetic data about identifiable individuals, reminding them of their obligations under the Data Protection Act 1998 and stressing the need to record, alongside the data or in an appropriately accessible form, whether or not the individuals concerned had been informed of the use to which their data might be put and whether they had expressed any reservations (Paragraph 7.56). (…) The procedure to be followed by all those involved in seeking consent for participation in research involving the collection and retention of biological samples that could be used for genetic analysis should include the following elements: (a) pointing out that (i) the medical treatment that all receive is based on studies carried out on very many earlier patients and that the request is for them to provide similar help for future generations, (ii) because medical science is changing very rapidly, some of the valuable uses to which the data could sooner or later be put are not foreseeable; (b) seeking the individuals’ agreement (i) to participate in the study, (ii) to entrust oversight of secondary use of their data to the arrangements in place under the proposed medical data panel; (c) asking whether participants would wish to be informed of any element in their genetic make-up that might be a cause for concern based on current knowledge – or to be alerted in the future in the light of new discoveries; (d) explaining the arrangements for withdrawing the consent; and (e) thanking participants for their help (Paragraph 7.65)'.

• The Human Genetics Commission, Inside information: balancing interests in the use of personal genetic data, 2002. The report is based on two overarching principles: the principles of genetic solidarity and altruism, and respect for persons. The report makes recommendations on the use of genetic information in clinical practice and medical research, and for nonclinical purposes such as insurance, employment, forensic databases and family relationship testing. In the area of genetic research and large genetic databases, the Commission suggests the establishment of independent oversight bodies for all such databases and recommends that databases established for medical research should not be accessible for other purposes such as forensic uses. The report stresses the importance of the informed consent of volunteers participating in this type of genetic research. It considers that one-off consent should be sufficient if identifiers are encrypted.

The United States of America

• American Society of Human Genetics, Ad Hoc Committee on DNA Technology, DNA Banking and DNA Analysis: Points to Consider, 1988. These ‘Points to Consider’ are designed to provide accurate and authoritative information in regard to DNA banking and DNA analysis. These ‘Points to Consider’ are offered primarily to help ensure that patients and families affected by genetic disease obtain and understand the information they need and desire. For this to occur, health-care professionals involved in counseling, banking, or analysis must recognize their individual responsibilities.

There are 11 points to consider: (1) Should a DNA diagnostic laboratory or DNA bank accept samples directly from patients or only from health-care professionals? (2) Who owns the DNA in a bank? (3) How can the risk of misunderstandings between the depositor and the DNA bank be minimized? (4) Under what circumstances, if any, should the DNA diagnostic laboratory release results to anyone other than the patient? (5) Under what circumstances, if any, should the DNA bank or laboratory transfer deposited DNA to a party other than the patient? (6) What is the responsibility of the DNA diagnostic laboratory for the accuracy of the reported result? (7) Under what circumstances is it permissible to use deposited DNA for purposes unrelated to the original request of the depositor? (8) Under what circumstances is it permissible to use deposited DNA for purposes unrelated to the original request of the depositor? (9) How should the competence of the director of a DNA laboratory be demonstrated? (10) Should DNA banks and/or DNA diagnostic laboratories be certified? And (11) What role should the American society of human genetics take to ensure that DNA banks and laboratories meet patient needs?

• The Genetic Privacy Act and Commentary, 1995. The premise of the Act is that no stranger should have or control identifiable DNA samples or genetic information about an individual unless that individual specifically authorizes the collection of DNA samples for the purpose of genetic analysis, authorizes the creation of that private information, and has access to and control over the dissemination of that information.

The rules protecting genetic privacy must be clear and known to the medical, scientific, business and law enforcement communities and the public. The purpose of the Genetic Privacy Act is to codify these rules. It has been drafted as a federal statute to provide uniformity across state lines. Under the Act, each person who collects a DNA sample (eg, blood, saliva, hair or other tissue) for the purpose of performing genetic analysis is required to: provide specific information verbally prior to collection of the DNA sample; provide a notice of rights and assurances prior to the collection of the DNA sample; obtain written authorization which contains required information; restrict access to DNA samples to persons authorized by the sample source; abide by a sample source's instructions regarding the maintenance and destruction of DNA samples. Special rules regarding the collection of DNA samples for genetic analysis are set forth for minors, incompetent persons, pregnant women, and embryos. Research on individually identifiable DNA samples is prohibited unless the sample source has authorized such research use, and research on nonidentifiable samples is permitted if this has not been prohibited by the sample source. The sample source has the right to: determine who may collect and analyze DNA; determine the purposes for which a DNA sample can be analyzed; know what information can reasonably be expected to be derived from the genetic analysis; order the destruction of DNA samples; delegate authority to another individual to order the destruction of the DNA sample after death; refuse to permit the use of the DNA sample for research or commercial activities; and inspect and obtain copies of records containing information derived from genetic analysis of the DNA sample.

• American College of Medical Genetics, Statement on Storage and Use of Genetics Materials, 1995. For the collection and storage of samples that may be used for genetic analysis in the future, the ACMG recommends that when obtaining samples for clinical tests, one must clarify the following: (1) description of current test including its purpose, limitations, and possible outcomes, as well as methods for communicating and maintaining confidentiality of results; (2) anticipated use of samples, including whether samples will be used only for the purpose for which they were collected and then be destroyed; (3) if samples will be retained after initial use, the following issues should be clarified as well: (a) the scope of permission to use samples or results in counseling and testing relatives and if so, which relatives; (b)the possibility of future test refinements and subjects' expectations that their samples will be analyzed using these new tests and that the results will be communicated to them; (c) permission to use samples from which identifiers have been removed in research, including what type of research; (d) duration of storage of genetic materials, including provision for future access by patients or their designee; the option to have their samples withdrawn or destroyed at any time; and the possibility of inadvertent sample loss.

When obtaining samples for research, one must clarify the following: (1) Description of current research: purpose, limitations as above, possible outcomes, and methods for communicating and maintaining confidentiality of results: (2) Possibility that research will lead to the development of diagnostic tests. If so, the possibility their samples will be tested or made available for testing and the results communicated to them must be disclosed, as well as the extent to which subjects can expect to receive any profits from test sales: (3) Permission to use their samples without identifiers for other types of research: (4) Policy for future recontact if permission for future research is not obtained with the sample: (5) Duration of storage of genetic materials and plans for discarding: (6) Note that the regulations on protection of human subjects applicable to institutions receiving federal funds require that the purpose, duration, procedures and alternative procedures, risks and benefits, compensation, voluntary participation and withdrawal, associated additional costs, and communication of results all be described.

For the use of stored DNA or genetic materials previously collected for clinical tests or research, the following factors should be considered in deciding whether it is appropriate to use previously collected samples without contacting the individual: are or will the samples be made anonymous? the degree to which the burden of contacting individuals may make it impracticable to conduct research; existence and content of prior consent; and risks and benefits. Contacts regarding new diagnostic tests should address permission to use stored samples; purpose, limitations, and possible outcomes of new tests; methods for communicating and maintaining confidentiality of results; permission to use samples or results in testing relatives; and duration of storage. Contacts regarding new research should address its purpose, limitations and possible outcomes, methods for communicating and maintaining confidentiality of results, duration of storage, uses of samples or results in studying others (anonymously), and sharing samples with other researchers for other types of research. Finally, in all research, the regulations related to protection of human subjects must be addressed.

• American Society of Human Genetics, Statement on Informed Consent for Genetic Research, 1996. Because of a variety of important and complex issues surrounding the use of previously collected biological samples, investigators are encouraged to develop procedures for obtaining informed consent when prospectively collecting specimens for genetic research purposes. It is strongly recommended that research results only be transmitted to subjects by persons able to provide genetic counseling. Because of the sensitive nature of genetic information, even those institutions not covered by federal regulations should develop a process for human subjects review. The recommendations apply to any specimen or sample that is used in genetic research.

The recommendations concern (1) research using prospectively collected samples, (2) consent disclosures, (3) disposition of samples and results, and (4) retrospective studies of existing samples.

• American Society for Investigative Pathology, Use of Human Tissues for Molecular Research, 1996. Pathology departments must have a written policy about confidentiality and privacy rights. The policy must include specific procedures for access to the medical record, confirmation of IRB approval of research involving tissues when appropriate, a description of safeguards to prevent unauthorized access, procedures for the release of information, methods of assuring that everyone with access or who may gain legitimate access embraces the need for privacy, confidentiality, and security of patient information, procedures specific for records kept in electronic form, and procedures that specifically apply to the release of information for research.

Anonymized existing or prospective specimens should be, for research purposes, treated as specimens that were never linked to a source. Where specimens or data are identifiable or linked, researchers must agree to prohibitions restricting them from contacting patients who are the sources of specimens used in research or their families. The prohibition of patient contact does not preclude obtaining information from tumor registries. Stewards of specimens should ensure that researchers have IRB- approved research proposals and have signed nondisclosure statements before releasing specimens to researchers.

For tissue research, general consent for research should be sufficient. General consent forms should be worded broadly and include statements that tissues may be used in research approved by Institutional Review Boards and for educational purposes.

• NCHGR, NCHGR-DOE Guidance on Human Subjects Issues in Large-Scale DNA Sequencing, 1996. Those engaged in large-scale sequencing must ensure that both the protections normally afforded research subjects and the special issues associated with human genomic DNA sequencing are thoroughly addressed. For the foreseeable future, establishing effective confidentiality, rather than relying on anonymity, will be a very useful approach to protecting donors. Investigators should introduce as many disconnects between the identity of donors and the publicly available information and materials as possible. No phenotypic or demographic information about donors should be linked to the DNA to be sequenced. The disclosure process to potential donors must clearly specify what the process of DNA donation involves, what may make it different from other types of research, and what the implications are of one's DNA sequence information being a public scientific resource. Library makers are encouraged to establish a collaboration with one or more human genetics units [or tissue banks]. The library maker should have no contact with the donor and no opportunity to obtain any information about the donor's identity. Effective immediately, projects to construct libraries for large-scale DNA sequencing must obtain IRB approval before work is initiated. Existing libraries can continue to be used for large-scale sequencing, only if IRB approval and consent for continued use are obtained and approval by the funding agency is granted.
• The College of American Pathologists, Recommended Policies for uses of Human Tissue in Research, Education and Quality Control, 1997. As recipients of tissue and medical specimens, pathologists and other medical specialists consider it their duty to protect the best interests of both the individual patient and the public. The decision to provide human tissue for research, education, and quality control purposes should be based on the specific (ie, direct patient care) and general (ie, furthering medical knowledge) interests of the patient and of society. The same standards of responsibility should apply to all medical professionals who receive and use specimens.
• Association of American Medical Colleges, Health Data Security, Patient Privacy, and the Use of Archival Patient Materials in Research, 1997. The AAMC endorses principles and practices for responsible research conduct to protect individuals from the unauthorized release of their identified health and medical information. As a rule, molecular, clinical, epidemiological and health services research on archival patient materials does not require that patient identities be known. However, archival research materials, although coded and not identified, must remain linkable to individuals. Research on archival patient materials, whether linkable or not, should be permitted under a general informed consent mechanism. Organizations that deliver medical care, or conduct biomedical, epidemiological or health services research, must be responsible and accountable for the development and implementation of appropriate policies to ensure protection of confidentiality of medical information through such mechanisms as informed consent, IRB review and approval, and adherence to accreditation standards and state laws and regulations.
• North American Regional Committee - Human Genome Diversity Project, Model Ethical Protocol for Collecting Samples, 1997. See Section 3.4.
• National Bioethics Advisory Commission, Research involving Human Biological Materials: Ethical Issues and Policy Guidance, Rockville, Maryland, 1999. In this report, NBAC offers a series of recommendations that have been developed to address perceived difficulties in the interpretation of federal regulations and in the language of position statements of some professional organizations; ensure that research involving human biological materials will continue to benefit from appropriate oversight and IRB review, the additional burdens of which are kept to a minimum; provide investigators and IRBs with clear guidance regarding the use of human biological materials in research, particularly with regard to informed consent; provide a coherent public policy for research in this area that will endure for many years and be responsive to new developments in science; and provide the public with increased confidence in research that makes use of human biological materials.
• National Bioethics Advisory Commission, Ethical and Policy Issues in Research involving Human Participants, Rockville, Maryland, 2001. Since 1995, NBAC focused on several issues concerning research involving human participants, issuing five reports and numerous recommendations that reflect its evolving appreciation of the numerous and complex challenges facing the implementation and oversight of any system of protections. The concerns and recommendations addressed in these reports reflect NBAC dual commitment to ensuring the protection of those who volunteer for research while supporting the continued advance of science and understanding of the human condition. This report views the oversight system as a whole, provides a rationale for change, and offers an interrelated set of recommendations to improve the protection of human participants and enable the oversight system to operate more efficiently.
• American Medical Association, Report of the Council on Ethical and Judicial Affairs: The Use of DNA Databanks in Genomic Research: The Imperative of Informed consent, Chicago, 2001. The Council recommends that ‘The following safeguards should be applied to the use of databases for the purpose of population-based genomic research: (1) Physicians who participate as investigators in genomic research should have adequate training in genomic research and related ethical issues so as to be able to discuss these issues with patients and/or potential research subjects. (2) If research is to be conducted within a defined subset of the general population, that is, an identifiable community, then investigators should consult with the community to design a study that will minimize harm not only for individual subjects, but also for the community. When substantial opposition to the research is expressed within the community, investigators should not conduct the study. When the community supports a proposal, investigators nevertheless should obtain individual consent in the usual manner. The same procedure should be followed whether the investigators intend to collect new samples and data or whether they wish to use previously archived data sets. (3) When obtaining the informed consent of individuals to participate in genomic research, standard informed consent requirements apply (see Opinion 2.07). In addition: (a) special emphasis should be placed on disclosing the specific standards of privacy contained in the study: whether the material will be coded (ie, encrypted so that only the investigator can trace materials back to specific individuals) or be completely de-identified (ie, stripped of identifiers); (b) if data are to be coded, subjects should be told whether they can expect to be contacted in the future to share in findings or to consider participating in additional research, which may relate to the current protocol or extend to other research purposes; (c) individuals should always be free to refuse the use of their biological materials in research, without penalty; (d) disclosure should include information about whether investigators or subjects stand to gain financially from research findings (see Opinion 2.08). Such disclosure should refer to the possible conflicts of interest of the investigators (see Opinion 8.0315); (e) subjects should be informed of when, if ever, and how archived information and samples will be discarded. (4) To strengthen the protection of confidentiality, genomic research should not be conducted using information and samples that identify the individuals from whom they were obtained (ie, by name or social security number). Furthermore, to protect subsets of the population from such harms as stigmatization and discrimination, demographic information not required for the study's purposes should be coded’.

Appendix B

Contributions

This document was reviewed by the ESHG Public and Professional Policy Committee (PPPC). Members of the PPPC are:

Ségolène Aymé (Paris, France) Chair

Martin Bobrow (Cambridge, UK)

Jean-Jacques Cassiman (Leuven, Belgium)

Domenico Coviello (Modena, Italy)

Gerry Evers-Kiebooms (Leuven, Belgium)

Peter Farndon (Birmingham, UK)

Helena Kääriäinen (Helsinki, Finland)

Ulf Kristoffersson (Lund, Sweden)

Marcus Pembrey (London, UK)

Sandy Raeburn (Nottingham, UK)

Joerg Schmidtke (Hannover, Germany)

Leo ten Kate (Amsterdam, The Netherlands)

Lisbeth Tranebjaerg (Tromso, Norway) Secretary

The first draft of this document was sent out to a wide range of people and organizations for consultation. It was reviewed critically by the following consultants:

Australia

• Agnes Bankier, Institute Royal Children's Hospital, Parkville

Belgium

• Laurence Cordier, European Commission - DGXII - ELSA Unit, Brussels
• Christiane De Wolf-Peeters, University Hospitals KU Leuven, Laboratory for Histochemistry and Cytochemistry, Leuven
• Sonia Le Bris, Deloitte & Touche, Biotechnology Group, Diegem
• Gert Matthijs, University of Leuven, Center for Human Genetics, Leuven
• Alain Miller, Computer Cell Culture Center, Seneffe
• Herman Nys, Center for Bio-medical Ethics and Law, Catholic University Leuven, Leuven

Eastern Countries

• Georges Kosztolanyi, National Institute of Hygiene, Department of Human Genetics and Teratology, Budapest
• Vaidutis Kucinskas, Vilnius University, Human Genetics Center, Vilnius
• Jiri Santavy, University Hospital, Department of Fetal Medicine, Olomouc

Finland

• Sinikka Lindh, Helsinki University, Department of Medical Genetics, Helsinki
• Minna Poyhonen, The Family Federation of Finland, Department of Medical Genetics, Helsinki
• Harri Sintonen, Ministry of Social Affairs and Health, Helsinki

France

• Jacques Beckmann, Genethon, Centre de recherche sur le génome humain, Evry
• Florence Bellivier, Université de Paris I, Département Sciences et Droit, Paris
• Alexis Brice, Hôpital de la Salpêtrière, U 289, Mécanismes et conséquences de la mort neuronale, Paris
• François Cambien, Institut National de la Santé Et de la Recherche Médicale, SC 7, Banque d'ADN pour la recherche épidémiologique et clinique dans le domaine cardiovasculaire, Paris
• Anne Cambon-Thomsen, Institut National de la Santé Et de la Recherche Médicale, U 518, Epidémiologie et analyses en santé publique, Toulouse
• Isabelle Hirtzlin, Institut National de la Santé Et de la Recherche Médicale, U 357, Recherches en économie de la santé, Le Kremlin-Bicêtre
• Anne Janin, Department of Pathology, St-Louis Hospital, Paris
• Christine Juloux, Aventis Pharma, Research & Development Worlwide Regulatory Affairs, Anthony
• Christine Noiville, Université de Paris I, Département Sciences et Droit, Paris
• Laurent Parmentier, Glaxo Wellcome, Unité Nouveaux domaines thérapeutiques et pharmacologie clinique, Marly Le Roi
• Carolyn Roistch, Transgene S.A., Strasbourg
• Sandrine Sabatier, Council of Europe, Bioethics Division, Strasbourg
• Safa Saker, Genethon, Centre de recherche sur le génome humain, Evry
• Peteris Zilgalvis, Council of Europe, Bioethics Division, Strasbourg

Germany

• Erik Harms, Department of Pediatrics, University of Münster
• Rupert Sandbrink, Schering AG, Clinical Development Cns, Berlin
• Jürgen Simon, Institut für Rechtswissenschaften, University of Lüneburg

Iceland

• Einar Arnason, University of Iceland, Institute of Biology, Population Genetics Laboratory, Reykjavik
• Ragnhildur Arnljotsdottir, Ministry of Health and Social Security, Reykjavik
• David Gunnarsson, Ministry of Health and Social Security, Reykjavik
• Arni Sigurjonsson, deCODE Genetics Inc., Reykjavik
• Kari Stefansson, deCODE Genetics Inc., Reykjavik
• Tomas Zoëga, Icelandic Medical Association, Reykjavik

Italy

• Corrado Angelini, University of Padova, Department of Neurological and Psychiatric Science, Padova
• Antonio Cao, Istituto di Clinica e Biologia dell'Eta Evolutiva – Universita degli Studi di Cagliari
• Franca Dagna Bricarelli, Galliera Hospital, Laboratory of Human Genetics, Genova
• Benedetta Nacmias, University of Florence, Neurological and Psychiatric Science Department, Florence
• Giuseppe Novelli, Universita Tor Vergata, Facolta Medicina Chirurgia-Genetica, Roma
• Gaetano Thiene, University of Padua Medical School, Pathology Department, Padova

Norway

• Anne Husebekk, University Hospital of Tromso, Immunology and Transfusion Medicine, Tromso
• Camilla Stoltenberg, The National Institute of Public Health, Section of Epidemiology, Oslo

Spain

• Angel Carracedo, Instituto de Medicinq Legal, Facultad de Medicina, Santiago de Compostela
• Conxi Lazaro, Institut of Oncological Research, Medical and Molecular Center, Barcelona

Sweden

• Gaby Borglund, Data Inspection Board, Stockholm

Switzerland

• Stylianos Antonarakis, University of Geneva, Faculty of Medicine, Geneva
• Christina Dahlstroem, Roche Genetics, F Hoffmann – La Roche, Basel
• Lara Hashimoto, Roche Genetics, F Hoffmann – La Roche, Basel
• Alex Mauron, University of Geneva, Faculty of Medicine, Geneva

The United Kingdom

• Kevin Cheeseman, Astra Zeneca, Department of Experimental Medicine, Loughborough
• Nick Davies, Astra Zeneca, Research, Decelopment Genetics, Cheshire
• Michael Furmston, Institute of Child Health; Bristol University, Bristol
• John Henderson, Institute of Child Health; Bristol University, Bristol
• Liz Jazwinska, SmithKline Beecham, Department of Human Genetics, Harlow Essex
• Alastair Kent, Genetic Interest Group, London
• David Lewis, The European Collection of Cell Cultures, Center for Applied Microbiology & Research, Salisbury
• Ruth March, Astra Zeneca, Research, Development Genetics, Macclesfield
• Lefkos Middleton, Glaxo Wellcome, Clinical Genetics, Greenford Middlesex
• Joy Osborn, Roche Products ltd, Clinical Pharmacology Operations, Welwyn Garden City
• Nicholas Wald, Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, London

Turkey

• Meral Ozguc, Hacettepe University, Faculty of Medicine, Ankara

United States of America

• Tom Murray, Center for Biomedical Ethics, Case Western Reserve School Medicine, Cleveland
• Dorothy Wertz, The Eunice Kennedy Shiver Center for Mental Retardation, Waltham, Massachussets

This document forms part of a BIOTECH programme financed by the Commission of the European Communities (CEE BIO4-CT98–0550).

All rights reserved. No part of this document may be reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcoping, or by any information storage and retrieval system, without permission in writing from the copyright holder.

© Copyright 2001 by ESHG/PPPC

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Godard, B., Schmidtke, J., Cassiman, JJ. et al. Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective.Eur J Hum Genet 11 (Suppl 2), S88–S122 (2003). https://doi.org/10.1038/sj.ejhg.5201114

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• Published: 13 January 2004
• Issue date: 01 December 2003
• DOI: https://doi.org/10.1038/sj.ejhg.5201114

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