CONTEXT

  1.  The Department welcomes the opportunity to contribute to the Committee's inquiry into human genetic databases. These databases have the potential to facilitate the development of new or improved methods of achieving better prediction, diagnosis and treatment of disease and more cost-efficient ways of operating health services. They will also raise significant concerns related to ethics, informed consent, confidentiality and public acceptability.

  2.  There is a significant potential for developments in genetics and genetic technologies to provide new routes to the understanding of complex disorders and the nature of disease. The creation of a system of electronic health records currently under development within the NHS with standard terminology and rapid, anonymised access will, in itself, create important opportunities for research, evaluation, and public health monitoring. Patients will have right of access to their own records.

  3.  Over time, health records will come to include more and more genetic information and diagnostic and predictive tests will become more widely available in community care settings. This information will add to the value of health records for research and evaluation but this will also increase the importance of having available a trusted system for protecting confidentiality.

  4.  It has been suggested that it may be possible to create a NHS health information and DNA database at some time in the future. This possibility raises significant issues about informed consent for use of data and biological samples and about confidentiality, feasibility and cost. All these issues will need to be explored fully with wide public consultation before any decisions are made on whether the creation of such a database is justified. The Human Genetics Commission will be considering these important issues as part of its overall work programme.

What current projects involve collecting genetic information on people in the UK?

  5.  Information on single gene disorders is currently collected and held in genetic registers run by individual Regional Genetics Centres as part of patient and family management. They are not "projects" but a clinical tool, although the information contained in them, with appropriate consent, could be used to aid research. The Department of Health, like other major funders of clinical research, supports work aimed at developing health information databases and tissue banks from people with or without a particular disease. This work will help to identify the gene or genes that influence disease processes. A list of these projects held on the National Research Register is at Annex 1.

  6.  The National Research Register (available on www.doh.gov.uk/research/nrr.htm) is a comprehensive register of R&D being funded by, or of interest to, the NHS. It includes information on research commissioned through the NHS national and regional programmes of R&D, Scottish and Welsh Office funded work, the Department of Health's Policy Research Programme and work supported by the NHS R&D within NHS Provider Units.

Are there collections of materials (eg tissue samples) that could be used to generate databases of DNA profiles?

  7.  Yes, there are a large number of healthcare situations in which clinical material taken for analysis is subsequently stored. This material is often not collected with the purpose of assembling a genetic database and it will be possible to link such specimens back to named individuals. Whether such material could be used to generate genetic data depends on the sample's size and condition. Much will also depend on the nature of the consent given by the donor to the use of the material. Current MRC guidelines stipulate that samples taken for routine clinical purposes, where consent for their use in research was not given, can normally be used only if anonymised and if an ethics committee approves.

What other projects are about to start?

  8.  A project aimed at establishing a new large prospective UK population cohort is currently under discussion by the MRC, the Wellcome Trust and DH. This will allow studies to be done on the interaction between genetic, environmental and lifestyle risks for common diseases of adult life. It is anticipated that such studies may lead to an identification of genetic variation that protects against disease, to individualised risk assessments and preventative advice or treatment, to the development and targeting of new interventions to prevent disease and to a major shift in the emphasis of healthcare from treatment towards prevention.

Why are these genetic databases being assembled?

  9.  Where the primary purpose is to specifically assemble a genetic database then the project objective is usually to determine relationships between polymorphisms in different genes and the incidence of specific diseases or syndromes. This will also facilitate further investigations on genotype, the environment and disease susceptibility. Under these circumstances, informed consent from the donor and ethical approval of the project will be obtained.

How are these activities funded?

  10.  Any DH and NHS involvement in the assembly of genetic databases is supported by DH and NHS R&D funding. This includes the funding of direct project costs and the added service costs of any additional clinical work required.

What practical considerations will constrain developments?

  11.  Availability of research funding and clinical need will always act as constraints to any expansion of these projects. However, there are two other important general issues that require consideration. The first relates to informed consent, safeguards to confidentiality (anonymisation) and related ethical concerns; clarifying legislation may be required in this area. The second relates to the organisation and management of the infrastructures needed to establish and maintain any developed databases; this becomes a significant constraint if the database is large or the follow up period is long.

Are there alternative ways of fulfilling objectives?

  12.  This will depend on the research or clinical question being asked. Research funders will always require the project to have ethical approval before it is initiated and the protocol will have been peer reviewed to assess that it is appropriate to the questions under investigation.

What is the genetic information that is being collected and how is it being stored and protected?

  13.  Biological samples associated with genetic databases are stored in a variety of ways at room temperature (usually after formalin fixation), in refrigerators and freezers and in liquid nitrogen containers. Guidance on the storage of all biological samples is available in the Royal College of Pathologists document "The Retention and Storage of Pathological Records and Archives". DNA and RNA is extracted from these samples and then stored at low temperatures.

  14.  Genetic information may be obtained in varying levels of detail depending on the reasons for its generation. Detection of major chromosomal abnormalities can sometimes be helpful in diagnosing disease. Sometimes the full nucleotide sequence of gene(s) is determined and in other cases, the nucleotide variations at single sites within genes may be indicative of a disease association.

  15.  Detailed nucleotide sequence information is generally stored electronically but limited amounts of this information, photographs etc will also be stored in clinical records, laboratory notebooks etc. In England, personal health information is protected by the common law duty of confidence and, where held on computer in an identifiable form, by the Data Protection Act 1984. The Data Protection Act 1998 came into force in March 2000 and will cover both computerised information and information held manually in certain types of files. This will include most if not all clinical records.

  16.  The Data Protection Act 1998, like its predecessor, does not apply to anonymised information. However, in English law, confidential information can be disclosed without the consent of the individual where the public interest in the disclosure exceeds the duty of confidence to the individual. This is a test that must be carried out on a case-by-case basis.

How do the organisations involved see their responsibilities regarding privacy, consent, future use, public accountability and intellectual property rights?

  17.  The Department of Health is committed to the concept of obtaining fully informed consent for the use of biological samples in research. Participants will "opt-in" to research programmes. Consenting to participate does not preclude an individual requesting subsequent withdrawal from the research project and for all data on them to be removed. In some cases, requests may be made to use samples for purposes other than those for which they were first taken. Gaining fully informed consent under these circumstances, particularly for old archived collections, is sometimes impossible or impractical. Under these circumstances the rationale for this secondary use must be approved by an ethics committee and the samples anonymised to the researchers.

  18.  The Department of Health has published a consultation draft Framework for Research Governance. The consultation will take place over the autumn and the Framework will be published at the end of the year. Standards are presented as web pages and include current (and notification of forthcoming) legislation, Department of Health standards and requirements and other established guidelines. All relevant guidance relating to human genetic databases will be included in the published document. The framework will be updated and new standards incorporated as soon as they become current. Standards related to ethics, science, information and IPR will be particularly relevant to the collection and use of genetic information.

  19.  The Research Governance Framework makes explicit where responsibilities lie across the many organisations and individuals likely to be involved in research programmes. The Framework makes clear that all standards, particularly ethical standards, apply not only to patients but to "patients, users or carers, their tissue and their data".

  20.  In the NHS Plan, the Government announced that it would be taking forward work over the next year with the aim of introducing changes in 2001 to ensure good practice in consent was in place throughout the NHS in both clinical and research settings. That work is presently being taken forward.

  21.  In addition, the Human Genetics Commission is the Government's advisory body on how new developments in human genetics will impact on people and on health care. Its remit is to give Ministers strategic advice on the "big picture" of human genetics, with a particular focus on social and ethical issues. Key aspects running through all its work are impartiality, transparency and the need to inform and involve the public and stakeholders and encourage debate. The priority area that HGC is examining in its current work plan is the storage, protection and use of genetic information. This work will include:

—  collating information on existing protections and reviewing their adequacy;

—  reviewing the range of uses of personal genetic information and keeping developments in third party uses, particularly insurance, under review;

—  developing a programme of public and stakeholder involvement;

—  establishing a set of general principles.

How do they see their activities in the area of genetic databases developing in the future?

  22.  As indicated previously, a project aimed at establishing a prospective UK population cohort is currently under discussion by the MRC, the Wellcome Trust and the NHS. In addition, the Research Governance framework being developed by the Department of Health is due to be published at the end of this year. The Human Genetics Commission has an on-going work programme with their findings on the storage, protection and use of genetic information being made available to Ministers by autumn 2001.

What advances in sequencing, screening and database technology are they anticipating?

  23.  It is likely that high through-put DNA sequencing and single nucleotide polymorphism detection technologies will become more widely available over the next five years. These will alter the dynamics of screening possibilities for both monogenic diseases and for the genetic component of common diseases. Susceptibility testing for common diseases is likely to become available. In addition, pharmacogenetics will assume increasing importance in the prescription of medicines to optimise benefit and reduce the incidence of adverse reactions.

  24.  Horizon scanning in all areas of genetics is done through the Horizon Scanning Unit at Birmingham and as part of the activities of the Human Genetics Commission. A strategic project on genetics is in progress within the Department of Health. This project aims to develop and implement a programme of work that will enable the NHS to accommodate likely advances in sequencing, screening and database technology and expand its delivery of genetic services in the future.

  25.  Information for Health noted that the use of patient-based information is at present difficult at both a clinical, operational and health authority level due to the lack of tools presently available to aggregate such data in consistent and comparable ways. The NHS Information Authority therefore has a programme of work to extend the development of electronic clinical records across the NHS over the next six years. These records are intended to have core standard elements and should have the potential to provide consistent data on a national basis.

What lessons should be learnt from genetic database initiatives in other countries?

  26.  A number of countries have embarked on human genetic database initiatives. Different countries have adopted different approaches and a clear distinction exists in several countries (eg Canada, United States, Sweden) between the legislation and policy which relates to criminal DNA databanks and that which relates to clinical DNA banks. One exception to this is Australia (in the Genetic Privacy and Non-discrimination Bill 1998 which is not yet in force), where no distinction is made between the two; instead, the basic requirements are set out which cover all collections of DNA samples. There is generally much greater consensus in terms of policy between different countries with regard to clinical DNA databanks than with regard to criminal DNA databanks.

  28.  In Iceland, the Directorate of Health sent out a booklet, "Centralised Health-Sector Database Questions and Answers", to every household to explain the meaning and implications of the Act which allowed the creation of a health care database exclusively by one company, DeCODE Genetics. This Act, the Act on a Centralised Health-Sector Database 1998, permitted construction of an electronic database of the country's health records (including diagnoses and test results, treatments and side effects).

  29.  The Icelandic Act specifies that personal information must be codified before being entered onto the database and it cannot therefore be traced back to an individual; linking of data to other information is subject to various provisions and protocols which must meet with the approval of the Icelandic Data Protection Commission. Health care records are entered on the database without prior consent being sought; however, participation can be refused by giving notice to the Icelandic authorities. Genetic data derived from biological samples previously donated for the purposes of scientific study will not be entered into the database except with the consent of the individual concerned. In addition a specially-appointed monitoring committee of three will ensure that the creation and operation of the Icelandic database is consistent with the law.

  30.  Clinical databases in countries such as Australia, Canada and Sweden have been established primarily to meet the health care and future service needs of individuals, and their families, affected by genetic disorders. Policies in all these countries stipulate the requirement for a person's written consent before information contained in the database can be released to third parties (although the Australian Ethics Committee makes an exception for information sought under subpoena). Also, information about the purpose for which the sample is to be stored is required to be given to the potential donor before consent is obtained. However, there are differences in some of the specific provisions with regard to disclosure and use of the stored samples and information. For example, the Swedish Medical Research Council recommends that stored samples may be used for future research without the individual's specific consent provided that: the information is coded or de-identified; the new research project is similar to that to which the individual did consent; and obtaining consent would be impossible. In contrast, the Australian Genetic Privacy and Non-discrimination Bill 1998 provides that researchers may only be granted access to stored samples if the individual permits such disclosure in their written authorisation.

  31.  There is a general consensus as to the ethical requirements of research involving human beings, and specifically human genetics research. With regard to acquisition of samples for research purposes, generally this is an area which is self-regulated by national health and medical research councils. One exception is the Swedish Act Concerning the Use of Gene Technology on Human Beings 1991. Policy statements in countries such as Australia, Canada, USA, Germany and Sweden provide that:

—  informed consent is required except under certain specified circumstances[3];

—  informed consent entails information being given to the potential donor detailing among other items, the purpose of the research, the ease of identification of a sample, whether samples will be stored for future research;

—  participation is voluntary and consent may be withdrawn at any time;

—  appropriate genetic counselling should be available where research is likely to produce results which relate to the individual's health status.

  32.  However, evidence from the US indicates that it is not sufficient to have ethical guidelines or codes of conduct if these are not or cannot be enforced effectively. For example, official surveys have found that the volume of protocols received can mean that review boards spend just two minutes per protocol, and that several review boards had granted waivers of consent without finding and documenting the criteria that must be satisfied for consent to be waived.

  33.  In terms of forensic databases, in both Canada and the US, only samples from convicted offenders can be stored. However, the category of offence which results in a convicted person's DNA being entered into the database varies considerably between the two countries. In the US, only those convicted of sexually violent offences and of offences against minors are liable, whereas in Canada, the DNA Identification Act 1994 provides a very extensive list of "designated offences", including hijacking, sexual offences, arson and murder. The fate of the sample if a conviction is quashed/the person is acquitted also differs between the two countries: Canadian law requires that samples are destroyed automatically, but US law in 29 states requires a petition by the individual for destruction of the sample. Australian and German legislation both stipulate that samples taken for forensic procedures may only be used for the purposes of the investigation or prosecution of an offence, and that they must be destroyed without delay once they are no longer required for these purposes.

  34.  The legitimate means by which samples can be acquired vary considerably between countries. For example, the Australian Crimes Amendment (Forensic Procedures) Act 1998 is unusual in distinguishing between intimate samples, which can be taken from a suspect without consent only on authorisation of a magistrate, and non-intimate ones, which can be taken without consent on order of a constable. The German Code of Criminal Practice authorises the taking of blood and other "bodily intrusions". The Canadian Criminal Code, which was amended by the DNA Identification Act 1998 (this has received assent but is not yet in force), authorises the taking of buccal swabs, blood samples, and hairs, including the root sheath, whereas Australian legislation specifically provides that the Act does not authorise the taking of a hair by its root. The amount of permissible force to obtain a sample also differs between countries; German legislation requires a special court order for the use of direct force while Canadian legislation specifies "as much force as necessary" can be used.

  35.  Access to samples in the criminal database differs between the two North American countries; Canadian legislation states explicitly that such samples and information may only be disclosed in order to assist law enforcement agencies in the detection and prevention of crime, whereas 18 US states authorise the use of records stored in criminal DNA databanks for forensic research, and five states authorise the use of the samples themselves for the same purpose.

  36.  Legislation in Australia, Canada, USA and Germany all have provisions concerning forensic procedures carried out on minors and/or persons incapable of giving consent. Germany and Australia both require court authorisation (or in Germany authorisation from the individual's statutory representative) before a forensic procedure can be carried out on a minor or a person incapable of consent. In Canada, where a forensic procedure is being carried out in accordance with the Young Offenders Act, a young person can waive their right to have a reasonable opportunity to consult with, and have the warrant executed in the presence of, counsel, a parent and/or other appropriate adult, provided that the waiver is recorded on audio or videotape, or is in writing, containing a statement that the young person has been informed of the right being waived.

  37.  With regard to data protection and privacy legislation, nearly all the legislation considered in countries such as Australia, Canada, Germany, Sweden and the Netherlands does not relate specifically to the protection of personal genetic information. This legislation tends to be general data protection legislation which may nevertheless apply to the collection, storage and use of personal genetic data. A couple of exceptions are the Manitoba Personal Health Information Act 1997, which explicitly states that the definition of "health information" includes genetic information, and the Dutch Personal Health Information Act 2000, which contains a specific provision relating to the processing of "data concerning inherited characteristics". Moreover, the Australian Genetic Privacy and Non-discrimination Bill 1998 contains a clause specifically stating that a person's general authorisation for the release of medical records would not constitute an authorisation for the disclosure of genetic information contained therein. In contrast, the Swedish Ministry of Health and Social Affairs has expressly stated that there is no need to distinguish between genetic and other medical data as the data obtained from a genetic examination is already protected by existing legislation regarding the confidentiality of medical records.

  38.  In conclusion, different countries have adopted different policies with respect to the creation, maintenance and operation of genetic databases. It is too early for the UK to adopt final policy positions in this area. Much will depend on the public consultation being done by the Human Genetics Commission. The clear lesson from Iceland is that these issues need to be fully and publicly debated and discussed before any major initiatives are introduced. This principle will be strictly adhered to in the UK. There are however two over-riding principles, namely that of fully informed consent and the ability to opt out of genetic studies at any time. It is considered inappropriate at this stage for the UK to establish a national database of genetic information. The next logical step is to undertake smaller studies and to have a major public debate before any significant changes are made to current UK policies.