Geller Institute of Ageing and Memory

Consent forms are the principal method for obtaining informed consent from biomedical research participants. The significance of these forms is increasing as more secondary research is undertaken on existing research samples and information, and samples are deposited in biobanks accessible to many researchers. We reviewed a selection of consent forms used in European Genome-Wide Association Studies (GWAS) and identified four common elements that were found in every consent form. Our analysis showed that only two of the four most commonly found elements in our sample of informed consent forms were required in UK law. This raises questions about what should be put in informed consent forms for research participants. These findings could be beneficial for the formulation of participant information and consent documentation in the future studies.

Analyses of individuals’ genomes — their entire DNA sequence — have increased knowledge about the links between genetics and disease. Anticipated advances in ‘next generation’ DNA sequencing techniques will see the routine research use of whole genomes, rather than distinct parts, within the next few years. The scientific benefits of genomic research are, however, accompanied by legal and ethical concerns. Despite the assumption that genetic research data can and will be rendered anonymous, participants’ identities can sometimes be elucidated, which could cause data protection legislation to apply. We undertake a timely reappraisal of these laws — particularly new penalties — and identifiability in genomic research.

The protection of identity of participants in medical research has traditionally been guaranteed by the maintenance of the confidentiality of health information through mechanisms such as only releasing data in an aggregated form or after identifying variables have been removed. This protection of privacy is regarded as a fundamental principle of research ethics, through which the support of research participants and the public is maintained. Whilst this traditional model was adopted for genetics and genomics research, and was generally considered broadly fit for purpose, various authors in the past few years have begun to question the effectiveness of the privacy protections in the genomic research context . In 2008, the Wellcome Trust and the NIH removed open web access to genomic datasets after it was demonstrated that individuals could be re-identified from aggregated data on genome-wide association studies and that therefore the removal of identifying variables or the publishing of aggregate data alone were insufficient to protect the privacy of research participants .

Who should decide about organ donation after death, the individual or the family? This paper examines why this practical question can be difficult to resolve. A comparison is made between standard decision-making in medicine and decision-making about organ donation. The questions are raised of the connection of the dead body to the person, and of who properly has autonomous control over the dead body. To understand the issues, an exploration of autonomy is needed, but at the same time this shows that a resolution depends on addressing complex spiritual and cultural issues, and questions about the autonomy of the individual versus that of the group.

Funding bodies have recently introduced a requirement that data sharing must be a consideration of all funding applications in genomics. Like all new developments this condition has had an impact on scientific practice, particularly in the area of publishing and in the conduct of research. We discuss the challenges that must be addressed if the full benefits of data sharing, as envisaged by funders, are to be realised.

This paper discusses attempts to define health within a public policy arena and practical and conceptual difficulties that arise. An Australian Aboriginal definition of health is examined. Although there are certain difficulties of translation, this definition is prominent in current Australian health policy and discourse about health. The definition can be seen as broadly holistic in comparison with other definitions such as that of the World Health Organisation. The nature of this holism and its grounding within the context of Aboriginal Australia is discussed. In particular, its implications for the phenomenon of medicalization, which may be associated with a holistic definition of health, is critically explored, as is the link of notions of health to culture and the question of the possibility of a universal definition of health. The question of to what extent a definition of health is inspirational or operational is also explored.

No abstract. Opening paragraphs:
Measuring quality of life is of concern to both philosophers and
psychologists, yet the two disciplines typically approach the question in very different ways, ways so diverse that it may look, as if they are engaged in such disparate activities that no dialogue between them is possible. In this paper we aim to construct the beginnings of a dialogue between the two disciplines which will show how they could serve each other and yet also show how, from the dialogue, difficult and previously unconsidered issues emerge for both sides. The most fruitful way of looking at these differences between the two disciplines and perhaps the most fruitful way of beginning a dialogue between them is in examining the issue of why quality of life is being measured. Thus, this is the question on which we primarily focus, rather than giving a detailed analysis of how quality of life might
be measured.
We are interested in how measuring quality of life stems from and
leads to a differential valuing of human lives in the work of many
philosophers, and how, in stark contrast, measuring quality of life
is a pragmatic concern for psychologists and other social scientists which stems from an equal valuation of different human lives. We show how practitioners in the field are badly in need of a theoretical framework. One major question which then emerges is whether it is possible to have this framework and yet retain commitment to equal valuation of different human lives.
We are particularly focusing on learning difficulties as an illustration of the argument.

A NOTE ON THE LANGUAGE: This paper uses the term 'mental handicap' which was the common term at time of publication to refer to intellectual disability.

ABSTRACT In this paper we compare philosophical and contemporary psychological approaches to mental handicap. Careful comparison between the disciplines reveals major differences and indicates that much further work is needed which would be fruitful for both sides.The two disciplines concentrate on different questions: philosophy tends to look chiefly at mental handicap in relation to issues of personhood and is not very clear about what mental handicap is; psychology on the other hand is much more specific about mental handicap, but shows little concern with critically examining value issues. Our main intention is to explore the different ways in which mental handicap is defined and seen as a class.We conclude that class definition embodies a significant normative component and a large element of social construction. To ignore this and attempt to make normative judgements on the basis of class membership is thus highly problematic. Since within philosophy, these normative issues are often discussed in terms of personhood, this category is also critically examined and the conclusion is reached that it too has normative and social components which can lead to ethically dubious judgements being made about ‘the mentally handicapped’.

Summary.  This study examines communication within families affected by haemophilia, focusing especially on communication about carrier status. A qualitative study using semi-structured interviews with family members in the UK revealed recurrent patterns in communication strategies and styles. Participants drew a marked contrast between the nature of communication within the clinic and within the home. In families, it is notable that communication usually occurs within the context of concrete experience of the condition. Noticeable differences existed in families with obligate carriers when compared with families with non-obligate carrier daughters. In families with affected sons, daughters may have more experience of haemophilia and consequently more understanding of their possible carrier status than in families with an affected father. Families also typically make value judgements and comments on coping strategies when they communicate about the condition. Readiness to receive information is very variable, and depends upon factors such as personality and life stage. Information may seem to be successfully communicated but the recipient may sometimes actually comprehend much less, only understanding more fully later or when the information becomes directly relevant to them. Periodic checking of understanding of different family members, and the provision of written information, may be helpful.

Testing for carrier status for various genetic conditions often takes place during adolescence or young adulthood. This paper aims to add to the discussion of when is the best time to test through an examination of how the law on medical treatment of children appears to be used in practice and how a careful examination of legal rulings might shed light upon best practice in this area. Our focus is on the Gillick ruling (Gillick v West Norfolk and Wisbech Area Health Authority 1986), which dealt with consent and confidentiality with respect to the provision of contraceptive advice to under 16-year-olds, but which has become a general benchmark for consent to medical treatment within UK law. In addition, we draw upon data from a qualitative research study which indicates potential problems with certain practices in respect of the influence of the Gillick ruling on carrier testing procedures. We present evidence that in at least some instances, adolescents have reduced capacity to grasp fully the implications of carrier test results. In the light of our findings we make recommendations for practice concerning the testing of children and young persons.

Genetic and other biotechnologies are starting to impact significantly upon society and individuals within it. Rose and Novas draw on an analysis of many patient groups to sketch out the broad notion of biocitizenship as a device for describing how the empowered and informed individual, group or network can engage with bioscience.

In certain settings, individuals may be attributed with the responsibility for passing on knowledge to other individuals. This paper examines the basis of such attributions. There are contrasting models of the relationship of individual knowers to knowledge which are in operation in different cases. The assumptions that drive judgements about responsibility to pass on knowledge are highlighted in cases where these assumptions clash, and the example of communicating information about genetic conditions within the family is used to illustrate this, drawing upon empirical data about instances of communication, non-communication, and failed communication. An ethic of communication implicitly rests upon assumptions of epistemic ideals, and to understand these fully, it is essential to examine how judgements of character and of relationship are made. It is argued that inappropriate ethical and epistemic ideals may lead to unjust attributions of responsibility to pass on information. Of particular interest are cases where the knowledge in question in some way changes the knower. The ethical implications of this within medical practice are briefly discussed, as well as implications for further work in applied epistemology further examining judgements of responsibility and character in ideals of communication.