Select Committee on Science and Technology Written Evidence

Memorandum by the Royal Society of Edinburgh

  1.  The Royal Society of Edinburgh (RSE) is pleased to respond to the House of Lords Science and Technology Committee's Inquiry into Human Genetic Databases. The RSE is Scotland's premier Learned Society, comprising Fellows elected on the basis of their distinction, from the full range of academic disciplines, and from industry, commerce and the professions. This reponse has been compiled by the General Secretary with the assistance of a number of Fellows with substantial experience of genetics and genetic databases.

  2.  The specific questions identified by the inquiry are addressed below:

Q1:  What current projects involve collecting genetic information on people in the UK? What other projects are about to start? Are there collections of material (eg tissue samples) that could be used to generate databases of DNA profiles?

  3.  Diagnostic laboratories (such as the Wessex Regional Genetics Laboratory) are sent specimens from patients suspected of having a genetic abnormality detectable by cytogenetic or DNA analysis. These laboratories can handle about 8,500 diagnostic specimens a year and of these about 5,000 have DNA extracted and stored for an indefinite period. DNA is also collected by large regional cohorts, such as by the Avon Longitudinal Study of Parents and Children (ALSPAC), and by Police Forensic Science Laboratory Dundee, and the UK National DNA Database at the Forensic Science Service Laboratory in Birmingham.

  4.  In terms of new projects, the Division of Molecular and Clinical Medicine at Edinburgh University is in discussions with the Imperial Cancer Research Fund about the creation of a genetic database for patients with a family history of cancer. In addition, they are exploring the concept of creating a database with tumour material from patients presenting to their hospitals in Edinburgh with a diagnosis of cancer, where they may wish at some stage to apply genetic tests to the material. There is also an initiative planned by the Wellcome Trust and Medical Research Council to take a representative sample of the general population.

  5.  With regard to collections of tissue samples, DNA could be extracted albeit with difficulty from fixed cells from specimens sent to diagnostic laboratories. Such specimens are stored for a number of years (varying with local laboratory practice, but sometimes up to 90 years). However, these specimens have been collected as part of the diagnostic process on individual patient and there has never been any attempt for such specimens to form part of a collection organised on a population basis. There are also extensive collections of cervical cytology specimens in all NHS Regions collected in the process of screening for pre-malignant and malignant lesions of the cervix. These preparations consist of relatively small numbers of cells fixed as smears to glass microscope slides. DNA will be sparse, but in many regions these will be fairly representative of the female population of reproductive age.

Q2:  Why are these genetic databases being assembled? How are these activities funded? What practical considerations will constrain developments? Are there alternative ways of fulfilling the objectives?

  6.  Human DNA/genetic databases and tissue banks are essential resources that are invaluable for diagnostic purposes and in research projects designed to improve our understanding of the human genome.

  7.  Research projects are contributing to the knowledge of the relationship between disease and genetic make-up, with implications for quality of life and the relief of human suffering. Diagnostic laboratories use diagnostic specimens: (i) to diagnose conditions for which the specimen was submitted, and (ii) anonymously as control material for other investigations. They use research specimens only: (i) to undertake research on the condition for which the specimens were obtained, or (ii) anonymously as control material for other investigations.

  8.  With regard to funding, genetic databases assembled for diagnostic purposes are funded by the NHS, while those for research purposes are funded by Research Councils and charitable organisations. Genetic databases are also used and funded in other areas such as forensic science, where DNA databases are contributing significantly to the detection of crime.

Q3:  What is the genetic information that is being collected? How is it being stored and protected?

  9.  Collections of DNA and/or information from patients from diagnostic laboratories contain information on a variety of conditions including mental retardation, behavioural abnormalities, diabetes, reproductive difficulties, cytogenetic abnormalities and specific malignancies. In addition to DNA, tissues and cell suspensions, these laboratories collect information on the immediate or extended family, relevant clinical information and the results of the various diagnostic tests being undertaken. The data from these laboratories are stored in computers and are protected by restricted access, safeguarded by appropriate codes and the professionalism of their staff.

Q4:  How do the organisations involved see their responsibilities regarding privacy; consent; future use; public accountability; and intellectual property rights?

  10.  The RSE believes it will be important to plan how to maintain individual databases while maintaining confidentiality, and to ensure that human genetic databases are made available in a carefully regulated and controlled manner but in such a way that important research is not inhibited. In this regard, it is often important to be able to inquire of the clinical outcome of the patient from whom the material was originally banked and to be able to know what happened to the patient from whom the material was taken.

  11.  In diagnostic laboratories, information identifiable with a patient is given only to other diagnostic laboratories, or clinicians on an individual basis, where the information is necessary to:

    (i)  make a genetic diagnosis (eg part of a family being investigated by two different laboratories);

    (ii)  undertake an audit;

    (iii)  conduct ethically approved research; or

    (iv)  assist in the clinical management of the individual from whom the data was collected.

  12.  Such information is only provided with the written permission of the referring doctor, and written consent is obtained from all research subjects and all research protocols are passed by the relevant Multi-centre Research Ethics Committees or Local Research Ethics Committees.

  13.  There are, however, some concerns about the quality of consent provided, given that the agreement from a given patient to provide a sample may be relatively or completely unspecific as to its future use. One question which may need to be addressed concerns whether or not use of samples, additional to that first proposed as agreed to, requires that the individual is re-invited to consent. This issue is significant because subsequent genetic tests may reveal different information which might ultimately be of more significance to a patient and his/her family.

  14.  Questions about tracing individuals will also need to be addressed. As with anonymised HIV testing for epidemiological purposes, there is a residual concern that—if therapy becomes available, or additional information comes to light—there may be a tension between the scientific endeavour and patient care.

  15.  It would appear that, to a great extent, intellectual property questions are straightforward, in that the development of a technique or therapy from human genetic material does not appear to provide the donor with any rights to benefit financially from the invention.

  16.  As for the question of accountability, arguably this will only be achieved by close monitoring of those facilities involved in such research, and a strict adherence to optimal observance of the law of consent and the professional and legal commitment to confidentiality.

Q5:  How do they see their activities in the area of genetic databases developing in the future? What advances in sequencing, screening and database technology are they anticipating?

  17.  It is clear that both molecular and symptomatic screening for those who may be genetically susceptible to common cancers are facing increasing demands and this is likely to extend also to other common diseases with identifiable genetic components, such as diabetes and degenerative cardiovascular disease. Genetic predisposition to disease is likely to become important and the tailoring of treatments to an individual's genetic constitution, initially by screening for genotype at particular loci, may develop. A key consideration will be the ethical problems involved in such screening. These issues are addressed further in the Society's response on Preimplantation Genetic Diagnosis.

  18.  The principles that underline decisions to set up future screening programmes remain unchanged: the disease is common and of consequence, there is an effective screening test (irrespective of its nature), and early treatment favourably alters the outcome. The existing and future national screening programmes within the various regions should be co-ordinated and monitored more effectively through a central agency to detect problems and poor performance before these enter the public domain. Demands for screening, however, are likely to increase, with a risk that failure to screen will be perceived as negligence. It will become correspondingly essential to tackle the ethical question of who is entitled to have access to the information, particularly in connection with medical insurance.

  19.  In terms of future advances in technology, there is a great deal of activity in the area of DNA screening that can be divided into low/medium throughput and high throughput. In the former case it is now possible to analyse DNA for single nucleotide poloymorphisms reliably and reproducibly and therefore to gain knowledge of value in the field of clinical diagnostics (eg to develop screening methods to differentiate between the many strains of human papilloma virus to diagnose the onset of cervical cancer). These new DNA-based methods are likely to be much more reliable, faster and cheaper than existing cytological methods. With the availability of high-throughput DNA analysis, significant advances are being made in DNA array technology to enable several thousand samples to be analysed simultaneously.

Q6:  What lessons should be learnt from genetic database initiatives in other countries?

  20.  Most common illnesses involve genetic risk factors but individuals with the critical combination of susceptibility genes will only develop the disease when exposed to particular environmental risk factors. The genetics of common disease, however, is very complicated and poses a huge challenge. There are two complementary approaches to the problem: (i) to study large genetically mixed populations, and (ii) to study isolated populations with reduced genetic heterogeneity (such as Iceland and Finland, or Sardinia).

  21.  At a seminar on National Databanks of Medical Records, on 14 February 2000 at the RSE, Ragnheidur Haraldsdottir, Deputy Permanent Secretary, Icelandic Ministry of Health and Social Affairs described how a database has been produced in Iceland from the medical records of almost the total population, secured by anonymity and encryption, and funded by a private pharmaceutical company. The information from the medical records included only the key features from each record, and any individual who did not wish to take part had to opt-out in writing to the Department of Health. It was also expected that a genetic base would soon be available, linked to this medical database, providing an unprecedented wealth of information. The major ethical problem presented by the Icelandic database is that the concept of truly informed consent for its use in any future project cannot be achieved with the documentation currently available. The implications of this ethical dilemma will become more apparent with attempted use of the data in this database for particular research projects.

Additional Information

  22.  In responding to this inquiry the Society would like to draw attention to the following Royal Society of Edinburgh responses which are of relevance to this subject: Consent and the Law (December 1997); Review of the Common Law Provisions Relating to the Removal of Gametes and of the Consent Provisions in the Human Fertilisation and Embryology Act 1990 (April 1999); Preimplantation Genetic Diagnosis (March 2000) and Healthcare in 2020 (September 2000). Copies of the above publications and further copies of this response are available from the Research Officer, Dr Marc Rands.

Professor P N Wilson CBE FRSE
General Secretary

October 2000

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