Current Research Sponsored by the Chief
Scientist Office Involving Collection of Human Genetic Data
The projects are summarised in the attached Excel
spread sheet. [not printed]
For the purposes of this response it is considered
that the systematic collection of any genetic data related to
human disease could be termed a "human genetic database".
In the case of projects sponsored by the Chief Scientist Office
(CSO), the collections are disease specific.
1. WHAT CURRENT
Currently the CSO is sponsoring 25 projects
detailed in the Excel spread sheet. Approximately 25,000 patients/controls
are involved of which half are subjected to questionnaire evaluation
of family history only and the remainder subject to current or
future DNA analysis.
What other projects are about to start?
A few projects are under consideration but no
final decisions have been made.
Are there collections of material (eg tissue samples)
that could be used to generate databases of DNA profiles?
At least 18 of our projects involve the use
of archived and fresh material. Three projects specifically state
that the collections are being made for future research.
2. WHY ARE
The CSO supports research related to and aimed
at improving the health of the Scottish Nation.
Knowledge concerning factors that influence
the disease process is essential and it is believed that the majority
of diseases are multi-factorial involving a genetic susceptibility
and an environmental component. Genetic knowledge may identify
those at risk, help in early diagnosis, relate to disease severity/recurrence,
enable the development of targeted therapies for treatment etc.
How are these activities funded?
All the projects are funded through the budget
of the Chief Scientist Office, Scottish Executive Department of
One project on stroke was commissioned and the
sample collection was made for future research on the well-documented
cohort of patients. The remaining 24 projects were all funded
via our response mode peer review grant process.
What practical considerations will constrain developments?
All projects require ethics permission from
the Local Research Ethics Committee (LREC) and/or Multi-Research
Ethics Committee (MREC). Informed consent is obtained from patients
before samples are taken. Archived samples may be anonymised for
The CSO recommends that the MRC guidelines on
"Human Tissue and Biological Samples for use in Research"
should be followed.
Are there alternative ways of fulfilling the objectives?
Although there are animal models of many human
diseases, investigation will ultimately have to be done on human
subjects. The provision of a mouth wash sample or a small amount
of blood is a minor inconvenience when compared to the potential
3. What is the genetic information that is
The current projects cover a wide variety of
human diseases in which there is evidence or suspicion of a genetic
contribution to the aetiology. In the simplest cases this involves
questionnaire collection of individual and family history data.
In other cases the presence or absence or the search for new genes,
mutations, replication errors, genetic instability, gene expression
or suppression etc.
How is it being stored or protected?
All projects are subject to the approval of
the various ethics committees. Data protection/patient confidentiality
is a requirement for funding and we also recommend that the investigators
refer to the MRC guidelines on "Human tissue and biological
samples for use in research".
3. HOW DO
Privacy: The ultimate responsibility for data
protection/confidentiality and patient consent resides with the
investigators on our grants. As mentioned above (3) it is a requirement
of our funding and we emphasise these responsibilities in our
grant application forms and guidelines.
Consent: Informed consent from patients is necessary
for all our projects. This has prevented research on individuals
who cannot give consent (in Scotland) and a change in the law
has been enacted that will allow consent by relatives or proxy.
Subjects under 16 years of age may give consent if they clearly
understand the situation but parental/guardian consent is also
Future use: We follow the MRC guidelines that
archiving of tissue/biological samples is a valuable resource
for future research. Additionally, archiving and storage of samples
in optimal conditions will obviate the need to collect further
fresh samples on many occasions. Immortalisation of cells may
provide an indefinite/replenishable source of material.
Patient consent is an issue and the MRC support
a two part consent process with the donor giving consent for current
specific experiments and then broader consent for storage and
future use in certain types of research.
Public accountability: As a government body
administering public funds for medical research we are acutely
aware of our responsibilities, not only to ensure that we are
supporting good quality relevant research that is value for money,
but also that our processes are as transparent as possible. All
our projects are subjected to rigorous external peer review and
are registered with the National Research Register that is available
for public scrutiny. The only limitation in "freedom of information"
is when the intellectual property of the investigators and the
CSO may need protection.
Intellectual Property Rights (IPR): Currently
IPR, patents, information and copyrights on CSO projects are vested
in the Scottish Ministers. The CSO will act on behalf of the Scottish
Ministers with regard to potential exploitation of these rights.
4. HOW DO
The development of human genetic databases resides
with the investigators that the CSO sponsor. We are currently
providing funds for software development for cancer genetic screening
and risk analysis.
Our activities in this area are guided by the
response mode grant applications that we fund.
The CSO is obviously aware of the MRC activities
in sponsoring human DNA collections.
What advances in sequencing, screening and database
technology are they anticipating?
Again these advances are dependent on the interests
and skills of the investigators that we support.
Sequencing is already well developed with automated
sequencers the speed of which has enabled the rapid resolution
of the human genome. DNA microarray technology will obviously
make an impact on screening. However future developments will
be to examine the function of the genes and the proteins that
they code forProteomics, and to develop targeted drugsPharmacogenomics.
We are already funding a project, which is an
Internet based genetic screening resource.
5. WHAT LESSONS
The database that has received the most publicity
is that of the Icelandic Population and a commercial company "deCODE".
This is a population health database as opposed to databases relating
to specific diseases such as the CSO projects.
The Icelandic database has stimulated much debate
because use of the medical records is by presumed consent rather
than informed consent. Individuals can opt out of the database.
Additionally "deCODE" have exclusive commercial exploitation
rights for 12 years of the electronic database and intend to research
the genetic origins of common diseases. Iceland would appear to
be an ideal population on which to study genetics and diseasean
isolated population with good medical records. There is no doubt
that scientifically/medically such a study could be invaluable
in the fields of preventive medicine, diagnostics and pharmacogenomics.
The concerns have not been about the scientific merit but about
issues of consent, confidentiality, prenatal testing and selective
abortion, genetic determinism etc.
These issues are matters of public debate but
the over-riding principle must be the freedom of the individual
to participate or not.