- How have families, and their health care providers, seeking clarity on a personís unexplained developmental delays or multiple congenital anomalies experienced engaging with the processes of whole exome and/or whole genome sequencing as a diagnostic tool? For example, among other things:
- How have sequencing, and subsequent results, been presented by health care providers as an option for families and individuals seeking this clarity?
- How have varied results (e.g., diagnostic, semi-diagnostic, uncertain significance, secondary findings) been received, interpreted, articulated and acted upon by individuals and their families?
Genetic testing is seen by families and clinicians as a valuable tool in determining the cause of their childís unexplained condition and to help provide closure to lengthy diagnostic odysseys. Results indicating a genetic cause were often articulated as providing an initial sense of relief. For some families, simply knowing their childís condition was genetically located was considered acceptable, at least for the time being. This acceptance was often couched in a language of medico-scientific progress and contingent on the hope that more would be known about their childís condition in the future.Families hoped and expected that genetic testing would provide personalized information about their childís condition that could lead to new treatment regimens or surveillance strategies. These hopes could be frustrated when testing located pathogenic variants, likely pathogenic variants, or VUS without any predefined or known clinical actionability. It is clear that the need to know the cause(s) of their childís condition was rarely the sole goal of families undergoing genetic testing. Many families receiving definite or likely genetic diagnoses often considered this to indicate a more serious and permanent condition. This could lead to a sense of resignation further exacerbated by the reality that many diagnoses have limited clinical actionability. Not all families understood the permanence of their childís condition negatively, however, but rather used results to foster a renewed sense of purpose in helping their child achieve their greatest potential.Families often articulated an understanding that genetic diagnoses with limited clinical actionability resituated the burden of care squarely on their shoulders as parents. While receiving a definite or probable diagnosis was both an appreciated and desired outcome, for some it could also feel as though the burden of care had become primarily and permanently situated on them, the parent. Genetic testing and diagnosis have the potential to implicate other family members as potentially living with the, as yet unrealized in them, condition. While this is seen by many families as beneficial in family planning or caring for other children, it can also heighten both clinical and parental surveillance of currently undiagnosed children. Even in cases where genetic inheritance was clear, geneticists marked out an ethical space attempting to decouple a causal link from the moralizing language of blame. By highlighting things like the role that chance plays in the transmission of genetic mutations, geneticists attempted to combat stigmatizing effects of genetic diagnoses. Interest in receiving incidental findings is often articulated around concerns with clinical actionability, condition severity and perceptions of autonomy. Families articulated the desire to receive all incidental findings that indicated severe conditions that were clinically actionable in childhood. Some families expressed a similar interest in incidental findings that were severe and actionable in adulthood. When incidental findings were not desired, this was largely due to their limited clinical actionability as well as parentsí feelings that their child should make their own decisions in adulthood.