Questions of kinship and inheritance in pediatric genetics: substance and responsibility

Abstract

Pediatric genetics is growing in significance as a tool to explain childhood illness and disability. Within both medical sociology and anthropology writers have explored whether investigating genetic inheritance can overemphasize biological connection over other versions of kinship and can also lead to new forms of responsibility being imposed on parents for being "guilty" of sharing problematic "substance" with their offspring. Such considerations are complicated by the fact that a child's genetic variation is not necessarily something they inherited from their parents. This paper explores how questions of inheritance and responsibility are brought into play by pediatric genetics. It does so by drawing on ethnographic research of a genetics service in the UK. In particular we highlight how understandings of kinship can be unsettled by genetic scrutiny, but that once unsettled are not resolved by establishing whether a child has or has not inherited a genetic condition from their parents. Instead existing cultural kinship understandings of the moral substance of kinship responsibility towards producing and raising the right kinds of children are of equal (if not more) importance.

The Actionability of Exome sequencing testing results

“…When a variant is de novo , it is relatively easy for clinicians to exculpate parents genetically (Dimond ; Featherstone et al . ; McLaughlin and Clavering ). Variants, however, can also be maternally or paternally inherited or be inherited from both parents and the exome report will have incontrovertible evidence of this inheritance.…”

“…, Mozersky ). Research in pediatric genetics finds that a genetic finding may frame the disability as an isolated chance event or as something that runs in families, and a genetic cause interpreted as bad luck may also offer protection against moral questions of being irresponsible parents (Latimer , McLaughlin and Clavering ). More generally, Featherstone et al .…”

On My Own: A Qualitative Phenomenological Study of Mothers of Young Children with Autism Spectrum Disorder in Taiwan

“…However, this is not necessarily the case in other settings. McLaughlin & Clavering () in England describe a father feeling increasingly detached from his connection with his daughter as he was shown a family tree drawn without him in it to indicate that the genetic syndrome his child had could only be passed on by the mother. The father already considered himself an outsider in his wife's family and community and the discussion of the origins of his daughter's condition distressed him because his biological connection to her was lessened in his mind.…”

“…Families are in many cases using this more concrete genetic linkage to strengthen previous societal views, whether correct or not, of bloodlines rather than changing them. In this vein, relations or genes are mobilized to increase family ties in some contexts while being used in other contexts to establish other kinds of relationships or even to break relationships (McLaughlin & Clavering ).…”

Negotiating blame and responsibility in the context of a “de novo” mutation

“…(1996 p107) Yet despite this wealth of knowledge about the social implications of genetic knowledge, little is known about how, and whether, families respond to or adjust their patterns of understanding when the condition is not inherited. One significant exception to this is McLaughlin & Clavering (2011). Their anthropological and sociological approach to understanding the impact on the family following the diagnosis of a genetic syndrome provides new insight, framing the de novo diagnosis as a mark of 'difference' to be negotiated.…”