This study focuses on understanding the psychosocial impacts of genetic causal attribution in the epilepsies, a set of common neurologic disorders with significant psychosocial dimensions, including stigma, discrimination, reduced rates of marriage and reproduction, and reduced quality of life. Genetic research and clinical genetic testing in the epilepsies are advancing rapidly, and plans are underway to develop precision medicine approaches for clinical care. These developments reflect a strong emphasis on genetic causes of epilepsy, which is being communicated to patients in multiple ways. For some people with epilepsy, this emphasis will be welcome; for others, psychological and behavioral responses may be more complex. However, little is known about the psychosocial impact of genetic causal attribution on people with epilepsy. In previous research, we studied a unique set of >100 families containing multiple individuals with epilepsy, to assess their preferences for genetic testing, their beliefs about genetic causes, and the associations of these beliefs with psychosocial outcomes. We now propose to build on these studies to include a more diverse and representative sample of ~600 adults treated for epilepsy at our institution. These patients are being offered whole exome sequencing (WES) as part of a research program sponsored by Columbia's Institute for Genomic Medicine (IGM), and we will take advantage of this opportunity to study patients' decisions to participate or not participate in WES and the impact or receiving or not receiving genomic results.
In Aim 1, we will assess the relations of genetic causal attributions to other illness perceptions (e.g., severity, persistence, treatability), and psychosocial (e.g., felt stigma, depression, anxiety) and behavioral (medication self-management) outcomes. Data analyses will test consistency with theoretical expectations under models of attribution theory, ?genetic optimism,? and genetic essentialism.
In Aim 2, we will investigate the ways in which receiving or not receiving genomic results may influence illness perceptions, psychological well-being, and health-related behavior, through in-depth qualitative interviews with patients who receive epilepsy-related findings, receive secondary findings, have WES but do not receive findings, and elect not to have WES.
In Aim 3, we will develop mechanisms to translate our findings into improvements in education about the role of genetics in the epilepsies. The results will clarify the beliefs and attitudes about genetics that underlie any adverse impacts of geneticization in epilepsy and provide a framework for education programs designed to ameliorate them, in order to maximize the benefits of genomic medicine.
This investigation focuses on the psychosocial impacts on people with epilepsy of the increasing emphasis on genetics in the cause of epilepsy. Research in this area is urgently needed because of the significant psychosocial dimensions of living with epilepsy, which include stigma, discrimination, reduced rates of marriage and reproduction, and reduced quality of life.
