April 22, 2016
Haines 215

Benjamin Derbez, PhD, National Institute for Health and Biomedical Research, Institute for interdisciplinary research on social issues 

Communicating genetic information to kin. From legal duty to warn to ethical problematics of kairos" 

The disclosure of patient’s genetic testing results to their family members remains a controversial topic within the medical genetics community.  The identification of a pathogenic gene mutation in a patient greatly increases the risks for those unknowingly affected relatives who may also be carriers and potential transmitters of a genetic condition.  The practice of non-disclosure could have tragic, yet avoidable, consequences for relatives of individuals who have been identified as carriers of specific pathogenic mutations.  There is a rising debate centered on whether genetic professionals have the right, and ethic duty, to directly inform relatives of their patients if the affected individual fail to do so.  Is this a favorable approach, and would this practice violate confidentiality of genetic findings? To address this issue, the French legislature in 2011 voted and modified a bioethics law, which now requires patients to inform their kin if genetic anomalies pertaining to disease accessible to prevention, treatment or genetic counseling have been identified.   According to the law, if a patient refuses to comply, the primary medical provider has the responsibility to inform such relatives by means of a standardized letter, preserving their anonymity (“indirect pathway”). In our paper we will examine aspects of the implementation of this French law in the context of breast and ovarian cancer testing (BRCA 1 and 2 mutations).  We will focus on empirical data gathered using ethnographic comparative fieldwork in two independent genetic wards. From our analysis we have determined a reluctance of both patients and genetic professionals in the use of the “indirect pathway” to inform relatives. We argue that this reluctance stems from the very nature of the family communication process,  which can be understood through the temporal and spatial problematics of Kairos, namely  the identification of the opportune moment to disclose sensitive information, based on the evolving structure of family space.

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