ABSTRACT
Genetics, genomics and society has burgeoned as an area of social and cultural scholarship alongside new technologies of diagnostics, databanking, treatment and genetic modification. In the late 1990s, as the Human Genome Project produced ever more detailed draft maps, and genes for the most common single gene disorders were identified and linked to the range of phenotypes through which these diseases are manifest, a number of prenatal genetic tests were developed by scientists and clinicians. Initially these tests were aimed at families who had already experienced the birth of an affected child, with conditions such as cystic fibrosis or Duchenne Muscular Dystrophy. Tests were also developed for so-called ‘lateonset’ disorders, such as Huntington’s disease, which affect people in adulthood. Although many have welcomed these new tests, families do not always want to take
the test or abort when the results are positive (e.g., in the case of cystic fibrosis – see Lafayette et al. 1999). These tests for specific genetic disorders have not tended to develop into more general forms of antenatal screening for a range of financial, ethical and organisational reasons. Antenatal screening is mainly offered for more common chromosomal disorders such as Down’s Syndrome. Ultrasound anomaly scans can also pick up a range of defects in the foetus, some of which are the result of genetic mutations. Together prenatal genetic testing and screening or prenatal diagnosis (PND) can be considered to be a ‘suite’ of measures which involve technological intervention in pregnancy to diagnose genetic and chromosomal disorders in order that prospective parents can be offered a termination should the foetus be shown to be adversely affected. As these technologies developed, considerable attention was devoted to the repro-
ductive choices associated with this new and not-so-new genetic knowledge. Abby Lippman’s famous paper (Lippman 1992) on the social and cultural constraints on informed choice set the scene for a range of critical analyses, including those from disability studies scholars such as Tom Shakespeare (1998) which challenged the implicit framing of disability as a medical problem to be avoided through genetic tests and termination. Teresa Marteau (1995) and colleagues’ studies of the interpersonal dynamics of
genetic counselling, together with the impressive historical analyses of US scholars such as Diane Paul (1998), clearly demonstrated the ways in which a range of social and cultural conditions affect the processes through which women come to be offered particular prenatal tests and make reproductive choices. Other important work from an anthropological perspective, notably Rayna Rapp’s (2000) study of amniocentesis in America, also gave a rich insight into the complex tapestry of choices around reproduction in the clinic, the family and the community. Linking micro-level decisions in the clinic, with larger social and cultural forces, these authors have shown the implicit and sometimes explicit ways in which the termination of affected foetuses is privileged over other choices, including the choice not to partake of tests in the first place. Genetic counsellors and clinical geneticists have also reflected upon these processes. For example, Angus Clarke in the UK (Clarke 1991) and Barbara Biesecker (Biesecker and Peters 2001) in the US, have actively engaged with the politics of reproductive choice and disability and sought to improve their services to take account of the social model of disability. This has led to a number of projects, such as the Answer (Antenatal Screening Web Resource) initiative in the UK, co-ordinated by Shakespeare, which focus upon providing more balanced information to prospective clients of genetic testing, and exploring experiences of living with genetic disease for individuals and their families.1
