Community Genetics and Genetic Alliances

Eugenics, Carrier Testing, and Networks of Risk

Aviad E. Raz

• Publisher: Routledge
• Year: 2009
• Print ISBN: 9780415496186
• eBook ISBN: 9781134005420
• Topic: Social Sciences
• Subtopic: Sociology
• Index: Social Sciences

Carrier testing of adults provides information about the risk of passing a genetic mutation to your children, leading to reproductive (and some say, eugenic) decisions. Excessive carrier screening may have adverse effects, but it can also prevent suffering and open up new reproductive options. Raz's study focuses on the interplay of community genetics (the medical organisation of carrier screening) and genetic alliances (networks of individuals at risk), exploring how 'genetic communities' are emerging both within existing ethnic groups and around patients' organizations.

While the interplay between carrier testing, reproduction and eugenics has sparked many discussions, this study provides a novel and much-needed perspective on its actual implementation and interpretation by community members. Conflating a cross-cultural spectrum of genetic communities, the benefits and perils of supporting (or restricting) carrier screening are located within broader social issues such as religion, ethnicity, multi-culturalism, abortion, stigmatization, suffering and care-giving. While carrier screening emerges as ultimately a morally justified pronatalist endeavour for the reduction of suffering, thus being different in principle from the 'old' eugenics, it can also carry unintended adverse consequences if left unattended to consumers, communities, or health professionals.

1
What is community genetics?

Definitions and debates

‘Genetic communities’ are a global phenomenon that juxtaposes a common genetic pool, ethnic bonds and political circumstances, for example African Americans, Native Americans, Asian immigrants, communities of ‘guest workers’ (e.g. people from Turkey who live and work in Germany), the Amish, Ashkenazi Jews, Scottish clans, island communities, the Bedouin, and so on. As a result of increased prevalence of certain genetic diseases, such communities may also develop (or be targeted for) networks of genetic testing, screening and counselling. On-going research (for example the Pima Indians of Arizona and late-onset diabetes, Israel’s Bedouin and congenital deafness, or Canada’s Quebecois and the genetic underpinnings of manic depression), can turn these ethnic groups into ‘genetic communities’ that are at risk not just for certain genetic diseases but also for the ‘bioprospecting’ of biotechnology companies who are following the rainbow of human diversity down to the pot of biomedical gold.

Evidently, genetics is only one piece in the puzzle of personal and collective identity, and we should not confuse the two or ‘essensialise’ genetic identities. That would no doubt constitute a simplistic understanding of people’s personal or collective identities. As preliminary evidence suggests, individuals tend to employ genetically deterministic ideas to a much lesser extent than could be expected when it comes to their own bodies and lives (Prainsack and Hashiloni-Dolev, 2008; Prainsack and Spector, 2006; Egorova and Parfitt, 2006; Gibbons and Novas, 2007). However, DNA is – and can effectively be turned into – a constitutive element of individual, group and collective identities. Indeed, this was the initial impetus for stressing the importance of ‘biosociality’ (Rabinow, 1992, 1999).

More recently, new types of genetic communities are also formed through voluntary associations and around support groups, coming into being through the interpersonal mediation of illness experiences, the creation of collective identities and the social mobilisation of such identities. Examples of such ‘genetic communities’ include member organisations of the US ‘Genetic Alliance’, the Association Française contre les Myopathies, or web forums concerned with Huntington’s Disease (HD). Other scholars have termed such communities as ‘genetic tribes’ (genos being the Greek word for tribe), arguing that:

We can create tribes named BRCA1, p53, delta508, apoE4, and many others; for each of these ‘tribes’, there may be a distinct culture of medical surveillance, and/or care, an economics of cost-effectiveness, an estimate of social burden, and for each of them, a place of acceptance or stigma, concern or discrimination, in relation to other tribes.

(Jonsen et al., 1996: 624)

All these genetic communities – in a parallel manner to all communities – are divided along lines of language, geography, ethnicity, religion, social class and resource allocation. Most genetic communities are defined on several dimensions at the same time. For example, consider the variety of faith communities (Muslim, Sikh, Hindu and Christian) coming from different ethnic minority groups (Pakistani, Indian and African-Caribbean), which are also at risk of haemoglobin disorders, and living in England. Many of the more ‘traditional’ genetic communities that are already built on ethnic and religious characterisations usually belong to the less privileged side of the spectrum. In contrast, many of the more recent, ad hoc genetic alliances and patients’ groups tend to be middle-class, well-educated and literate in using the media and other social networks (Novas, 2006, 2007; Rapp, 1999; Stockdale and Terry, 2002).

This chapter explores a basic dilemma without clear-cut answers – from which direction to approach these genetic communities and how to define the dimensions of community genetics. There are several directions that lead to and from this crossroads, including: (a) which level of analysis to use; (b) which discipline and method to employ; and (c) which perspective to look from. Ideally, an integration of these directions would be called for but in reality they are often followed separately and in disjunction. All of these questions are also present in the dilemma of who ‘owns’ the field of community genetics: Should it be a public health activity, a clinical programme or a grassroots initiative?¹ Community genetics thus provides an example of a field of research which is in the very process of being constructed and institutionalised. It therefore embodies a great deal of boundary work (Gieryn, 1983, 1999). The discipline and methodology employed in this book come from sociology and anthropology, but it is worthwhile to first familiarise oneself with the alternatives before proceeding with the sociological perspective.

Which level of analysis to use?

The question of which level of analysis to use characterises debates that are currently going on both in medicine and in medical sociology and anthropology. Let me begin with the medical debate and then proceed to the sociological one. Even in medicine, let alone medical sociology, there are several interpretations of what community genetics is. Human geneticists, public health scientists and social epidemiologists are debating about what is a good definition of this new hybrid speciality (Knoppers and Brand, 2009; Gollust et al., 2005). One dominant interpretation conveys a public health perspective, namely control and prevention of genetic diseases; this is a ‘population’ approach (Stewart et al., 2007). An alternative perspective is an extension of clinical genetics principles and approaches from the individual and family members to the community. For North American proponents of ‘public health genetics’, the terminological difference is a semantic left-over that will be corrected as community genetics merges into public health genetics. They describe public health genetics as ‘a term mostly used in the United States … community genetics is a term mostly used in Europe … public health genetics and community genetics could be viewed as one and the same’ (Khoury et al., 2000a: 5). In contrast, for European proponents of ‘community genetics’, the term denotes an independent orientation that needs to be acknowledged in developing a medical field that should ideally combine the best from clinical genetics and public health (ten Kate, 2005). This is arguably also the situation in Israel, where the Department of Community Genetics in the Ministry of Health is responsible for (a) newborn screening, (b) prenatal diagnosis for women at increased risk for children with Down’s syndrome and genetic diseases, (c) a national programme (established in 1980) of carrier screening of adults for Tay-Sachs, cystic fibrosis (CF) and familial dysautonomia, and (d) various community-based carrier screening programmes targeting particular subpopulations that are at risk for specific genetic diseases (Israeli Department of Community Genetics, 2003–4).

What does the application of genetics/genomics to public health look like? Newborn screening for genetic conditions is one, relatively familiar type, of such an application. Other applications may become available by discovering genetic markers that are related to public health problems. The following scenario (taken from Brand et al., 2008) demonstrates this option to illustrate how the public health application of genetics might differ from its clinical utilisation in medical genetics. A genetic marker is found for an increased risk for coronary heart disease. The increased risk implies a probability and the genetic marker is yet another modifier in the causality of the disease. How do we handle such new information concerning genetic susceptibility? As a first step, population-based, large-scale epidemiologic studies are required to measure associations between specific gene variants and environmental factors and the risk of coronary heart disease. To translate these surveys into public health interventions, it is also necessary to quantify not only the impact of gene variations on the risk of the condition but also the effect of modifiable factors that interact with gene variations. The result may be some dietary prescription, for example in the case of recommending women who are or could become pregnant to take folic acid to reduce embryonic neural tube defects. Additional examples include host genetic factors that influence the susceptibility to certain infectious diseases or the responsiveness to vaccines. All these examples seem to be more directly related to large populations than to communities, although some of these issues can be only a step away from giving rise to concrete networks of individuals at risk. As Brand et al. (2008: 9) summarise, ‘community genetics is not synonymous with public health genetics, as community health is not synonymous with public health’.

Public health professionals are nevertheless acknowledging the importance of working out how to respect and involve the community perspectives in genetic research and testing. Writing in the American Journal of Public Health, Gollust et al. (2005: 96) describe this belated realisation in the following manner:

The notion that community perspectives should be given special attention in genetics research is the result of research findings within the last decade, in response to research that indicated Ashkenazi Jews have a higher carrier frequency of genes that predispose them to breast and ovarian cancer … While community can evoke a range of group characteristics, our discussion is focused on the involvement of communities affected by genetic conditions. There are fundamental conceptual challenges associated with defining the community, the legitimacy of community representation, and deciding which community voices should be solicited – those who have a given condition, those who have a family history of a given condition, or representatives of the general public (original emphasis).

The achondroplasia survey conducted by the above mentioned authors can serve to illustrate their conception of a public health approach to community genetics. Genetic testing for achondroplasia,² a condition that can be fatal within the first months, has existed since 1994. The survey included individuals who have achondroplasia and the parents and siblings of those affected. It was found that 87 per cent of the 325 respondents supported the use of prenatal screening by affected parents, but only 29 per cent supported population-wide prenatal screening for achondroplasia. Overall, neither affected individuals nor relatives were interested in using the test to terminate pregnancies on the basis of a diagnosis of achondroplasia or average stature, but they would use the test to diagnose homozygous achondroplasia, which is a lethal condition. The researchers conclude that practice guidelines should endorse making prenatal testing for homozygous achondroplasia generally available to couples who have achondroplasia, but the variation in views and experiences among the sample suggests conflict with population-wide prenatal screening for achondroplasia (Gooding et al., 2002; Gollust et al., 2003). This survey thus includes valuable recommendations for public health policies regarding population-wide screening, and it certainly touches on issues which are pertinent to the genetic community of achondroplasia. Nevertheless, it appears – especially from a sociological perspective – to require further grounding in the shared narratives of members of the achondroplasia community. To gain better understanding on why these issues are defined as ethical concerns by these people in these times and these places, such moral discourses should be further located in the genetic community of achondroplasia. This direction will be explored in the following chapters.

What, then, is the actual difference between public health genetics and clinical genetics/genetic counselling as they relate to community genetics? Ten Kate (2005: 7) describes the difference in the following manner:

Clinical genetics is concerned with individual persons or couples or families who have or fear a health problem. These individuals, couples or families are seen one by one. Public health, on the other hand, is not primarily interested in persons or families who are already aware of a problem, but it focuses on people who may not yet be aware but are at risk of developing a health problem. Where possible, a group approach is preferred above an individual one.

Why is it so difficult to bridge public health genetics and clinical genetics? This question may be especially intriguing to external observers. For some public health professionals there is indeed no conflict between the agendas of clinical genetics and public health genetics regarding the need for respecting and involving the perspectives of affected communities (Gollust et al., 2005). Not all clinical geneticists have the same ethical positions and worldviews, as Wertz and Fletcher (1989) have already shown. For example, Down’s syndrome has been viewed for most of its history as a public health problem, with prenatal screening aimed at reducing its incidence (Raffle, 2001). As Bryant et al. (2008) show, only relatively recently have there been efforts to promote reproductive choice rather than test uptake as the preferred measure of a screening programme’s success. Some critical sociologists of medicine thus argue that both clinical genetics and public health genetics may be interested in reducing the incidence of diseases and in economic benefit, and could be measured by uptake and compliance (cf. Wertz, 1998). Many clinical geneticists would rightfully see this as insulting, since they are honestly not thinking along these lines, but reject the idea that reducing the birth prevalence of diseases is an aim of clinical genetics. They do not want their activities being assessed in terms of economic benefit, uptake or compliance. Clinical genetics is indeed different from public health in espousing the ideal of non-directiveness and more recently also respect for communities. Many clinical geneticists, however, are still, to a large extent, also bound to the formative legacy of normative medicine. It is noteworthy that clinical geneticists have only recently begun to discuss the measurement of informed choice and not just informed consent (Henneman et al., 2001a; Bryant et al., 2008). However, a wide-scale implementation of informed choice is still a challenge.³ We can say that clinical genetics is ideally built on the promotion of informed choice, rather than on the public health goal of reducing the prevalence of disease; however the actual application of informed choice into clinical genetics is still in its early development.

Furthermore, in the eyes of some proponents of clinical genetics, their perspective is a bastion against the potential coercion inherent in public health genetics. Such worries are arguably connected to the traditional view of public health as an arm of the state, even though this rather authoritarian and top-down conception of public health has recently been supplemented by a greater emphasis on working with affected communities to build their own health-promoting and problem-solving capacity (Jennings, 2004; Gostin, 2000). Nevertheless, some clinical geneticists may shiver at the prospect of a public health concern with reproductive choices and pre-symptomatic testing:

If public health enters this field the distinction with eugenics becomes blurred. In these situations, persons who are tested and persons who do not want to be tested run the risk of becoming stigmatized or discriminated against, especially if the testing is done for public health’s sake. The same applies when reproductive matters, in the name of prevention, are brought into the sphere of public health.

(ten Kate, 2005: 8)

In a parallel manner, Angus Clarke (1997: 88) argued that

The use of the word ‘prevention’ in many health care contexts will lead on to the notion of ‘responsibility’ and thence to the stirring of the flames of blame and guilt. In the context of genetics, the corresponding notion is ‘reproductive responsibility’; the failure to comply with the recommended screening test is already commonly regarded as blameworthy. It would be completely unacceptable for a health service deliberately to provoke such emotions in the parents of children with serious diseases. It is simply not appropriate to approach prevention in the context of genetic diseases in the same way as the health education and the anti-tobacco campaigners lobby for the prevention of lung cancer.

Some have argued that the division of labour between clinical genetics and public health may be demonstrated by the difference between prenatal testing and neonatal screening.⁴ The former is in the domain of clinical genetics, practiced trough genetic counselling at the discretion of individual couples. The latter, in contrast, belongs to the domain of public health and is authorised by medical institutions. Some proponents of public health genetics have also supported this division, claiming that:

Although the public health community should take an active role in promoting the use of genetic tests and services when there are proven and cost-effective interventions to prevent disease, death or disability (e.g. phenylketonuria or PKU), public health agencies cannot play a role in promoting the use of genotypic prevention as a method to improve the public’s health.

(Khoury et al., 2000a)

However, as sociological and anthropological studies of the new genetics have shown, even when reproductive choices and pre-symptomatic testing are conducted within the ‘personal’ and ‘liberal’ framework of genetic...

Table of contents

• Genetics and Society
• Contents
• Acknowledgements
• Introduction
• 1 What is community genetics?
• 2 Carrier matching and collective socialisation
• 3 Reproductive carrier testing between orthodoxy and change
• 4 The medicalisation of cousin marriage
• 5 Genetic alliances
• 6 Scientific, communal and lay interpretations of carrier testing
• Conclusion
• Notes
• References
• Index