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 PROJECTS INVOLVE COLLECTING GENETIC INFORMATION ON PEOPLE IN THE UK?

  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 THESE GENETIC DATABASES BEING ASSEMBLED?

  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 Health.

  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 patient confidentiality.

  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 benefits.

3.  What is the genetic information that is being collected?

  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 THE ORGANISATIONS INVOLVED SEE THEIR RESPONSIBILITIES REGARDING PRIVACY; CONSENT; FUTURE USE; PUBLIC ACCOUNTABILITY; AND INTELLECTUAL PROPERTY RIGHTS?

  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 required.

  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 THEY SEE THEIR ACTIVITIES IN THE AREA OF GENETIC DATABASES DEVELOPING IN THE FUTURE?

  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 for—Proteomics, and to develop targeted drugs—Pharmacogenomics.

  We are already funding a project, which is an Internet based genetic screening resource.

5. WHAT LESSONS SHOULD BE LEARNT FROM GENETIC DATABASE INITIATIVES IN OTHER COUNTRIES?

  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 disease—an 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.