Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences
The consent problem within DNA biobanks
Section snippets
The need for prospective DNA cohort studies
With the completion of the Human Genome Project, attention is now being directed to understanding what genes do, and how they interact with other genes and environmental factors in the aetiology of disease. Currently, the most widely used strategy for this research is to conduct case control studies, by comparing the DNA from cases who have a particular disease with that from controls who do not have that phenotype.
Retrospective case control studies are most effective at studying rare diseases,
Biobanks
A number of biobanks have been or are in the process of being established to examine the relationship between genes, environment (including lifestyle) and disease.
In December 1998, the Icelandic government passed a law permitting the creation and sale of a database containing the medical records, family history and genetic material of every Icelandic citizen. Because of its small size (population 270,000) and relative isolation, the Icelandic population is particularly well suited for genetic
The need for personal identifiable data versus anonymisation
A central feature of biobanks is their ability to link genetic material with information about an individual both in terms of retrospective data on risk factors (via questioning of the individual and biochemical/physiological tests) and prospective data on morbidity and mortality. The collection of prospective data requires all information to remain identifiable by some means. Measures can be taken to make it difficult to link data to people. For example by using record numbers with strict
Informed consent
Biobanks raise a number of technical, ethical and legal challenges. Some of the most controversial and complex issues are in relation to informed consent.
Within codes of ethical research practice, such as the Declaration of Helsinki, informed consent is a key ethical standard required of clinical research:
In any research on human beings, each potential subject must be adequately informed of the aims, methods, sources of funding, any possible conflicts of interest, institutional affiliations of
Consent to collect data/DNA directly from the data subject
Within UK Biobank, people aged 45–69 registered with primary care general practices participating in UK Biobank will receive a letter from their general practitioner (GP) inviting them to participate. Those who agree will complete a questionnaire and attend an interview with a research nurse where formal written consent will be sought. The nurse will perform a physical examination and obtain blood for biochemical investigations. As part of this baseline data collection, information will be
Consent to use data/DNA collected for other purposes
It is envisaged that the Icelandic biobank will be utilising information collected for other purposes within medical records and so on, rather than making approaches direct to individuals. Hence, it is not envisaged that there will be any need for direct subject contact to obtain data.
Within UK biobank, it is planned to resurvey participants approximately five years after recruitment to update information about lifestyle and to verify morbidity data. Apart from the initial interview and this
Consent to research being performed on DNA and health information
Genetic databanks should conform to the same ethical standards as any other form of medical research. As with other longitudinal studies with long follow-up periods, it will be difficult to foresee exactly what research will be conducted later on. The challenge for biobanks will be to provide a definition of the individual research projects that will be performed using the biobank, such that a reasonable individual would agree that it was covered by the information provided to potential
Definitions of consent
Beauchamp and Childress (2001, p. 80) identified the following elements of the process leading to informed consent:
Informed consent requires a process of disclosure (informing) and
- I.
Threshold elements (Preconditions)
1. Competence (to understand and decide)
2. Voluntariness (in deciding)
- II.
Information elements
3. Disclosure (of material information)
4. Recommendation (of a plan)
5. Understanding (of 3 and 4)
- III.
Consent elements
6. Decision (in favour of a plan)
7. Authorisation (of the chosen plan)
Exceptions to informed consent
Meisel (1979) identified four categories of exceptions to the requirement of informed consent: emergency, incompetence, waiver and therapeutic privilege.
The emergency exemption would apply during threatening situations in which the individual is not able to receive information and/or given consent. There are circumstances where an individual would object to rescue, for example in a suicide attempt, or where the intervention infringes some moral or religious code, for example Jehovah’s Witness
Minimal risk
The US National Bioethics Advisory Commission was of the opinion that most research involving human biological materials ‘is likely to be considered of minimal risk because much of it focuses on research that is not clinically relevant to the sample source’ (National Bioethics Advisory Commission, 1999, p. 67). NBAC thought that ‘when a study is of minimal risk, consent is no longer needed by a subject as a form of self-protection against research harm’ (ibid., p. 66). NBAC did however
Blanket consent
While the UK and Estonian biobank will be seeking consent from people before including them as participants, it is not planned to obtain consent prior to each research study that will utilise the data and DNA that subjects have provided.
A working group of the UNESCO International Bioethics Committee concluded that a ‘system which required fresh consent would be extremely cumbersome and could seriously inhibit research and it is for this reason that a system of “blanket consent” covering all
Pre-authorisation model
Greely (1999, p. 759) recognised that most types of blanket consent will ‘fall short of true informed consent’.
Caulfield, Upshur, & Daar (2003) suggested that consent for initial collection of genetic material and health information should be required, but that subsequent uses could be carried out under a model of pre-authorisation. Participating individuals would have the ability to pre-specify uses for which they do not wish to give informed consent in the future. For example, participants
Waived consent
In its ethical guidelines for biomedical research, the Council for International Organizations of Medical Sciences (2002) recommended that the investigator must obtain voluntary informed consent from the prospective subject or their legally authorised representative for all biomedical research involving humans. It believed that waiver of informed consent is to be regarded as uncommon and exceptional. However, CIOMS did note that ‘when the research design involves no more than minimal risk and a
Attitudes of health professionals to consent in biobanks
In a consultation conducted with general practitioners as part of the planning of UK Biobank, doctors were very reluctant about releasing patient information without the patient providing consent on each occasion morbidity data is requested (Hapgood, Shickle, & Kent, 2001). The doctors found it unacceptable to mount studies on traits or diseases that had not been named in the initial consent. They believed that the study should obtain consent for what was definitely included, giving a broad
Public attitudes to consent in biobanks
A Canadian study found that most people believed that genetic information was different from other health information and that there was overwhelming support for strong safeguards on genetic privacy. The intended use of the information was the key determinant of whether the public was willing for information to be sought and collected. However, there was also a recognition that there were ‘substantial benefits to be gained from population genetic studies and that such studies are impossible
Conclusions
Biobanks must minimise costs by eliminating ‘unnecessary bureaucracy’ using cost-effective strategies for recruiting a representative sample with sufficient power to conduct useful research. While keeping consent procedures to the minimum that is legally and/or ethically acceptable would help the former, the latter could be jeopardised if potential research subjects are not satisfied with the protections and guarantees being offered by the biobank.
Opt-in arrangements permit an assessment of the
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