Unambiguous test results or individual independence? The role of clients and families in predictive BRCA-testing in the Netherlands compared to the USA
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
References (35)
- et al.
The autonomy paradox: predictive genetic testing and autonomy: three essential problems
Patient Education and Counseling
(1998) - et al.
The sociology of entrenchment: a cystic fibrosis test for everyone?
Social Science & Medicine
(1994) - et al.
An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer
Cancer Genetics and Cytogenetics
(1999) The description of technical objects
Genetic diagnostics for hereditary breast cancer – displacement of uncertainty and responsibility
BRCA patients and clinical collectives: new configurations of action in cancer genetics practices
Social Studies of Science
(2005)Genen, fout DNA en kanker
(2005)- et al.
The right to know and the right not to know
(1997) Commentary
Journal of Medical Ethics
(2003)
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
New England Journal of Medicine
Across the spectrum: case studies in genetic counseling for breast and ovarian cancer
Journal of Genetic Counseling
Risky relations: family, kinship and the new genetics
Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching
Genetic Testing
Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information
Journal of Medical Ethics
Author’s reply
Journal of Medical Ethics
Chemical analysis of urine for life insurance: the construction of reliability
Science, Technology, & Human Values
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