ABSTRACT
Genetic information is increasingly acknowledged to play an important role in disease expression (chapters 3, 4). The capacity to test individuals for genetic disorders is also increasing. There is diagnostic testing to confirm the presence of a condition; pre-symptomatic testing for individuals who may be at risk of developing a condition; prenatal testing to identify the presence of a condition before birth; pre-implantation testing of embryos produced through IVF; and population screening, where members of specific populations susceptible to particular conditions are tested. This chapter highlights the complex relationship between genetic information
and disease knowledge, and how different publics are negotiating this terrain. Chapter 4 identified that there have been rapid developments in sequencing and identification of SNP gene ‘markers’, meaning there is more raw genetic data (which may, or may not, translate into accurate genetic knowledge about what this data means). The range of available genetic tests in multiple contexts, from prenatal to adult testing, is rapidly widening. The increase of genetic testing within public healthcare, and in the spread of commercially available genetic/genomic test kits (Wallace 2008b; GeneWatch 2007; Lunshof et al. 2008; Prainsack et al. 2008) make this one of the most important arenas of public engagement with human genetics, where many debates about the meanings and implications of genetic information are being situated. The chapter shows that these tests raise complex ethical minefields which must be negotiated. Some see this as the (eugenic) ‘slippery slope’; others frame tests in relation to a right to choose on the basis of new information. For many, genetic testing and screening informs debates on health and identity, human value and human nature, and social justice and equity. The accuracy of the tests, especially in relation to the predictability of multifactorial disease and assessing predisposition and at-risk status, is also a heavily contested arena. Section one provides an overview of genetic screening and testing practice
and policy, using evidence of single-gene disorders. Using examples of the prime movers who are engaging with the debates, Section two focuses on two examples of genetic testing; prenatal testing and commercially available adult
testing, both of which were catalysing significant public engagement during the research timeframe. This section addresses some of the emergent issues and the ways in which they are being framed by different publics, such as issues of choice, value and ‘slippery slopes’ in relation to prenatal testing; while commercially available genetic tests raise issues such as how consumers will negotiate risk and what it is they are being sold. The issue of commercially driven patient/consumer identities, discussed in chapter 4, is returned to here.
