Memorandum by the Scottish Executive Health
The Scottish Executive Health Department welcomes
the opportunity to respond to the call for evidence from the House
of Lords Science and Technology Committee which is conducting
an Inquiry into the present use of Human Genetic Databases and
the plans for their development. In so doing it is presumed that
it would not be helpful to the Committee to duplicate much of
the ground which will be covered within the Department of Health's
Memorandum [see p 32] as in essence the major issues of
interest are the same both sides of the Border. We have seen the
DH Memorandum in draft form and are in agreement with the content
and the comprehensive discussion of the issues within it. This
submission will therefore concentrate on those aspects of issues
which are of particular relevance to Scotland, including those
specifically mentioned in the letter of 20 July 2000 from the
Clerk to the Committee, ie the Scottish Molecular Genetics Consortium
and general practitioner records in Scotland.
The Chief Scientist's Office of the Scottish
Executive Health Department have compiled a separate submission
which, as it can stand alone, has not been incorporated within
the body of the SEHD document, in the interests of clarity, but
accompanies the document as an annex (Annex 2).
Policy in relation to genetic issues, and thus
the major part of the work of the Human Genetics Commission, is
a reserved area and falls within the jurisdiction of the Westminster
Parliament. However, the organisation and provision of NHS services
for individuals and families with (or at risk from) genetic disorders
and any aspects of the HGC work which have implications for such
services, are areas which are devolved and fall within the area
of responsibility of Scottish Ministers and the Scottish Parliament.
It is only in respect to the details of some
funding arrangements and operational issues that genetic services
within the NHS in Scotland differ from those in the rest of the
UK. Thus, in general the observations made about NHS services
within the DH Memorandum are equally pertinent to Scotland.
Similarly, all relevant research funded within
Scotland will be contained within the National Research Register
as referred to in the DH Memorandum.
What current projects involve collecting genetic
information on people in the UK?
Each of the four regional genetic centres in Scotland
collects and holds information on individuals and families with
(or at risk of) genetic disorders on both disease specific and
general genetic registers. The registers in each of the centres
are discrete and not linked. They operate within the recognised
boundaries of confidentiality and Data Protection Legislation.
Similarly, the Molecular Genetic Laboratories within each of these
centres store residual DNA from specimens referred to them for
diagnostic testing. Although such registers and DNA banks could
with appropriate consent and ethical approval be used for research,
they are primarily designed to aid "clinical" management
of individuals and families and as such are not projects.
More detail of the way in which the Scottish
Molecular Genetic Laboratories operate within a consortium arrangement
can be found in Annex 1.
Research relating to the collection of genetic
information in Scotland can be found within the CSO submission
in Annex 2.
What other projects are about to start?
There is considerable interest within academic
circles in Scotland in the proposal currently being discussed
by the MRC, Wellcome Trust and NHS, for the establishment of a
new large prospective UK population cohort study (as detailed
in the DH Memorandum). With its well developed genetic science
base and comprehensive population registry system, Scotland would
be well placed to participate in such a venture should it be given
ethical and funding approval.
Are there collections of materials (eg tissue
samples) that could be used to generate databases of DNA profiles?
The existence of stored clinical materials following
diagnostic analyses within the health care setting and its potential
uses and benefits are essentially the same in Scotland as in other
parts of the UK.
In Scotland as in other parts of the UK, blood
is take routinely from all new born babies for screening for metabolic
diseases. However, unlike England, a single national laboratory
in Glasgow is centrally funded (as a national service) to provide
the testing service for the whole of Scotland. This laboratory
has been in operation since 1965. The service is contracted for
by the National Services Division of the Common Services Agency
for the NHS in Scotland, on behalf of the Scottish Executive.
It is stated within the terms of the contract with the laboratory
that the residual portion of the blood spots (on the Guthrie cards)
is the property of the Scottish Executive. Any proposal to carry
out a research project on these specimens, or use them to generate
DNA profiles, would therefore be subject to consideration by the
Scottish Executive within the context of appropriate consent and
Ethical Committee approval. The Guthrie cards from all babies
tested in Scotland since the beginning of the service are stored
in the laboratory. There is thus an archive of material which
dates back for 35 years and contains over two million specimens.
This is a valuable but finite resource (given the size of the
blood spots); thus there would have to be careful prioritisation
of any proposed research projects using these cards.
In Scotland there is a three yearly rolling
programme of health surveys. A random sample of the population
(involving approximately 13,000 individuals in 1999) are selected
for study. Health and lifestyle information is collected from
those who agree to participate and those individuals over 11 years
of age are invited to give a blood sample. A variety of analyses
are performed on these samples in order to provide population
profiles on biological markers of interest, eg vitamin levels.
Residual portions of these specimens are stored and would thus
have the potential of being used as a source from which a database
of DNA profiles could be generated. The use of such specimens
would, however, be governed by the usual considerations of consent,
confidentiality and ethical approval.
What is the genetic information that is being
collected and how is it being stored and protected?
Sequence information from RNA and DNA extracted
from human tissue specimens can be stored in a variety of ways
including both paper and computer based systems. There are no
material differences in the provisions governing the confidentiality
of data and in terms of the data protection legislation in Scotland.
This issue is addressed comprehensively in the DH Memorandum.
In Scotland there are no routinely collected
health statistics held within the Information and Statistics Division
of the Common Services Agency, which would fall within the definition
of Human Genetic Databases as used by the Inquiry. All laboratory
reports from genetic laboratories are made in aggregate form to
ISD and cannot be linked to individual patient information.
As in England, work is in hand to develop electronic
clinical records across the NHS in Scotland, which will have the
potential to facilitate the compilation of national clinical databases
in the future. There is an intimation in the covering letter from
the Clerk to the Committee, that Scottish GP records are kept
in a more coherent and computerised way compared with other parts
of the UK. We presume that this perception is derived from the
relatively wide-spread use of a national computer system, GPASS.
However, in effect, this in no way differs from the rest of the
UK, where other computer systems such as VAMP or EMIS are widely
The Continuous Morbidity Recording Project records
symptoms and diagnoses from all GP contacts for a representative
range of computerised "spotter" practices throughout
Scotland (currently around 60). Although there are no plans for
links with human genetic databases, developmental work is looking
at the feasibility of creating an electronic patient and an electronic
health record which, hypothetically, could include information
based on genetic studies and thus could potentially provide a
mechanism for the collection of clinical information in a prospective