Memorandum by the Department of Health
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
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
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
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
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
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
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
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
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;
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
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.
3 Generally, if the research entails "minimal
risk" for the subjects, if the research requires the requirement
to be waived, and if the research will not adversely affect the
"rights and welfare" of the individual. Or, in cases
where the individual has consented to the use of their genetic
data in an earlier research project, and the subsequent project
is directly related to the earlier project. Or, if the research
involves de-identified or coded data. Back