Unambiguous test results or individual independence? The role of clients and families in predictive BRCA-testing in the Netherlands compared to the USA

https://doi.org/10.1016/j.socscimed.2010.06.011Get rights and content

Abstract

It has been frequently acknowledged that results of predictive genetic tests may have implications for relatives as well as for the individual client. Ethicists have noted that an individual’s right to know her genetic risk may conflict with a relative’s right not to know this risk. It is hardly recognised, however, that family members may have a role in the production of test results as well.

This article reconstructs the actual process of predictive BRCA-testing in the Netherlands, with a special focus on the roles assigned to clients and families and the expectations about family relationships inscribed in this practice. Fieldwork was carried out in an outpatient clinic for clinical genetics in an academic hospital. Data collection included 11 interviews with members of families, observations of counselling interviews between research participants and their clinical geneticist, and interviews with the 2 clinical geneticists involved in the consultations. It compares this process to the American practice of BRCA-testing. Whereas Dutch practice presupposes active involvement of diseased relatives in the testing process, American practice constitutes the client primarily as an independent individual who may or may not decide to involve her relatives. Moreover, Dutch clients are expected to have a harmonious, open and communicative relationship with their relatives. The American client, in contrast, is supposed to have more distant family relationships.

It is argued that an interpretation of these differences in terms of ‘the right to know’ and ‘the right not to know’ misses the point, because the production of informative test results depends on the cooperation of relatives. The differences between Dutch and American practice are more adequately interpreted as implying a preference for unambiguous test results versus a preference for individual independence. The paper shows what is lost when opting for one value at the cost of another and discusses several alternatives to circumvent the value conflict at stake. By opening up for discussion the values implicit in BRCA-testing practices, the paper aims to contribute to debates on the overall desirability of these practices.

Section snippets

Theoretical background

In recent years several authors have criticized the representation of predictive genetic testing as a simple tool and have noted the concurrent neglect of the actual production of test results. These authors argue that predictive genetic testing, like other technologies, is not a simple tool but a complex practice and that producing test results implies a lot of hard work (Boenink, 2008, Featherstone et al., 2006, Horstman and Smand, 2008, Konrad, 2005). This work is not only performed by lab

Methods

To show that the role of family members and family relationships are relevant dimensions of a testing architecture and should be taken into account when debating the desirability of such architectures, I will reconstruct Dutch testing architecture, focusing in particular on the roles and responsibilities assigned to clients and family members and the type of family relationship assumed here. This reconstruction is based on data collected during a study of Dutch BRCA-testing practice carried out

Clients and families in Dutch BRCA-testing

In the Netherlands health care is usually offered by non-commercial service providers. The Dutch Ministry of Health included predictive DNA testing in 1994 in the Law on Special Medical Operations (‘Wet Bijzondere Medische Verrichtingen’). As a result, the provision of predictive genetic testing is prohibited unless an institution is licensed by the Ministry. Currently eight centres for clinical genetics related to the academic hospitals and one hospital specializing in cancer care hold a

Harmonious family relations

What does this brief reconstruction of Dutch BRCA-testing architecture show, then, about the specific roles implied for clients and family members? And what type of family relationship is presupposed? For a start, clients should not just be willing to submit information about their family history of disease; they should actively approach relatives to check this information and ask permission to retrieve their medical files. Moreover, a client should be willing and capable to ask one or more

Clients and families in American BRCA-testing

The association between active involvement of family members and the search for unambiguous test results becomes both more visible and less self evident when one compares Dutch BRCA-testing architecture to the American one. In this section I will therefore first summarize Parthasarathy’s reconstruction of the client’s role in American testing practice and then add some observations with regard to the type of family relations assumed by this practice.

As Parthasarathy points out, the evolution of

Biologically related individuals

What is the role of American clients and family members in the testing process, then? In line with Parthasarathy’s characterisation of the client as an empowered consumer, the American client is supposed to be able to handle test results on her own, independently from her family. She can decide for herself whether or not to have a test and the test can be performed without any involvement of family members. This is true even when the result may be ambiguous.

A client’s family does feature in

The tension between unambiguous test results and independence

The preceding sections clearly show how the architectures of Dutch and American BRCA-testing imply very different roles for clients and family members. Whereas family members play a role early in the Dutch testing process, they become visible in the American one only after the result has been produced, and even then the client can refrain from involving them. Moreover, both practices assume very different types of family relationships. Whereas the Dutch practice will work best if family

Re-organizing predictive BRCA-testing practice?

Since both Dutch and American practice has drawbacks, it makes sense to explore the possibilities to circumvent or attenuate the tension between unambiguous test results and independence. At least three directions might be envisioned: (1) improving the predictive value of DNA testing (what I will call ‘the technological fix’); (2) leaving the choice to the client (‘the autonomy fix’); or (3) changing the eligibility criteria for BRCA-testing (‘the eligibility fix’). I will briefly discuss what

Concluding reflections

This study, in alignment with recent STS research on practices of predictive genetic testing, shows that it is not useful to speak of ‘a BRCA-test’. Predictive BRCA-testing is a complex socio-technical practice and can take many different forms. To discuss the desirability of these practices, then, one should be ready to delve into details. Only by studying how these practices actually work, what they presuppose and which implications these presuppositions have, the norms and values implicit in

Acknowledgements

The fieldwork on Dutch BRCA-testing practice was done in the context of the project ‘Problems of social cohesion and health politics in an era of predictive medicine’ (led by prof.dr. G.H. de Vries) and was funded by the Social Cohesion program of the Netherlands Organization for Scientific Research (NWO). This support is gratefully acknowledged. I would like to thank all interviewees (clients and physicians) for their willingness to cooperate in this research project. Dirk Stemerding provided

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