2.1 Genetics, health and the human genome
The Health Field Concept recognised the significance of human biology and genetics for health. Indeed, probably one of the most important endeavours undertaken in recent years has been the Human Genome Project (HGP), an internationally co-ordinated and funded undertaking which aims to map every gene in human DNA. As part of this project, and in what is widely described as the ‘new genetics’, the ability to identify gene mutations is making possible each of the following:
- screening for carriers of recessively inherited disorders (e.g. cystic fibrosis)
- identification of those who have the gene for a particular disorder e.g. Huntingdon’s Disease)
- gene therapy for those affected with a disorder (e.g. cystic fibrosis).
Particular interest has been shown in the relationship between ‘race’, ethnicity and health. There has been much discussion and debate about whether genetic factors contribute to inequalities and differences in patterns of mortality and morbidity, particularly in relation to common chronic conditions such as diabetes, coronary heart disease and hypertension (DoH, 2000).
However, while some researchers argue that the higher prevalence of these conditions among some ethnic groups is evidence of genetic differentiation between groups, other researchers have argued that environmental factors are most important. In a review of the epidemiological evidence on ethnic inequalities in health, Davey-Smith et al. (2000) argue that there is more genetic variation within ethnic groups than between ethnic groups, thus concluding that social and environmental factors are more significant than genetic ones.
Many commentators, including scientists, religious leaders, politicians, policy makers, academics and activists, have welcomed the potential outcomes of the HGP and see it as having enormous potential for promoting public health. However, others warn against the potential for abuse and discrimination (for example, see Albert, 2007) although this warning is by no means widespread (Earle and Sharp, 2007). Some of these concerns have been identified in Box 1.
Box 1 The human genome project: a dangerous future?
It has been predicted...that insurance companies will insist on having detailed genetic profiles on all applicants for life or health insurance; that parents will try for perfect, designer babies, and select them (or abort them) on grounds such as intelligence, sex, or beauty; that traits not currently seen as being diseases, but as being part of normal human variation, will come to be seen as pathological conditions meriting treatment or eradication; and that the selection of marriage partners will be based on the exchange of genetic information. Further predictions are that we will become less sympathetic to and less able to cope with, or pay for, physical or mental disability, since it will be assumed that births of severely handicapped individuals can be avoided; that prospective parents will be under pressure to abort foetuses affected by genetic disorders, whether or not they personally approve of abortion; that ethnic groups with a tradition of marrying their cousins will be discriminated against in health-care provision and pressurized to change what for them may be socially valued practices; that employers will screen prospective employees for genetic conditions and that those likely to develop genetic disorders may not only be unemployable but also uninsurable; and that the health services will become overwhelmed by expensive programmes for genetic screening, diagnosis and therapy.
Others have also been critical of the increasing emphasis on genetics and the human genome. Lippman, for example, refers to geneticisation, which she describes as: ‘an ongoing process by which differences between individuals are reduced to their DNA codes, with most disorders, behaviors and physiological variations defined, at least in part, as genetic in origin’ (Lippman, 1991, p. 19).
In a European study of the new genetics and of reproductive technologies, interviews with medical, legal and nursing professionals also show how geneticisation has become a ‘public health story’ (Ettorre, 2002, p. 56) in which health surveillance can claim competence in additional areas of personal and social life. Given these concerns, Wang et al. (2005) identify some of the opportunities for public health genetics in relation to health interventions, advocacy and promoting the public understanding (see Box 2).
Box 2 Research and practice opportunities for public health genetics
Public understanding of genetics
- Methods to increase genetic literacy
- Genetic risk communication
- Informed consent and decision making
- Unintended outcomes of genetic information (e.g., fatalism, fear of discrimination)
- Media reporting of genetics
Interventions for health behavior change
- Impact of genetic information on screening and lifestyle behaviors
- Methods to incorporate genetic information into behavioural interventions
- Role of family history as a tool for public health prevention
Public health assurance and advocacy
- Advocacy against premature introduction of genetic services
- Methods to counter direct-to-consumer and direct-to-provider advertising
- Availability of comprehensive genetic services
- Equal access to genetic services
- Prevention of genetic discrimination (e.g. genetics and theworkplace)
Whereas geneticisation places heredity at the fore of public health, the new genetics poses both problems and possibilities for improvement. It also creates a society in which individual characteristics are no longer fixed, but malleable and changeable by the manipulation of genes.