What’s at stake? Genetic information from the perspective of people with epilepsy and their family members

Substantial progress has been made in identifying genes that raise risk for epilepsy, and genetic testing for some of these genes is increasingly being used in clinical practice. However, almost no empirical data are available from the perspective of people with epilepsy and their family members about the impact of genetic information and potential benefits and harms of genetic testing. To address this gap we conducted in-depth qualitative interviews with 40 individuals (22 with epilepsy, 18 unaffected) in the USA from families containing multiple affected individuals who had participated in epilepsy genetics research. The interviews were coded and analyzed using the principles of grounded theory. Several major themes emerged from these interviews. Participants expressed “personal theories of inheritance” that emphasized commonalities among relatives and the idea that disease risk is most shared by family members who share physical or personality traits. Most participants said they would have genetic testing if it were offered. They cited many potential benefits, including learning what caused epilepsy in their family, being better able to care and advocate for children at risk, reducing guilt and blame, providing an increased sense of control, and relieving anxiety in unaffected individuals who test negative. The influence of genetic information on reproduction was a particularly salient theme. Although respondents believed genetic testing would be useful for informing their reproductive choices, they also expressed fear that it could lead to external pressures to modify these choices. Other concerns about the potential negative impact of genetic information included increased blame and guilt, increased stigma and discrimination in employment and insurance, self-imposed limitations on life goals, and alterations in fundamental conceptions of “what epilepsy is.” Consideration of the perspectives of people with epilepsy and their family members is critical to understanding the implications of contemporary epilepsy genetic research and testing.

► We conducted interviews with people with epilepsy and their family members. ► People in families affected by epilepsy have “personal theories of inheritance.” ► Genetic information and testing are of significant interest. ► Key concerns include stigma, discrimination, & reproductive decision-making. ► Part of what is at stake in epilepsy genetics is public understanding of epilepsy.