What's at Stake?

Genetic Information from the Perspective of People with Epilepsy and Their Family Members

This paper examines the impact of genetic testing and the potential benefits and harms it can provide to people with epilepsy and their family members.

The authors interviewed 40 individuals to gain a better perspective on how genetic information can “reveal important aspects of the experience of living with a stigmatized illness.” The in-depth interviews were analyzed using grounded theory. Participants included 22 with epilepsy and 18 who were unaffected, and had previously taken part in a genetic research study for epilepsy.

Key Findings:

  • The majority of participants, including the family members, claimed that if offered the choice, they would participate in genetic testing because of the potential benefits the results could reveal.
  • Participants described their notions about heritable illness and how genetic information can bring about thoughts and emotions regarding reproduction.
  • Though participants saw benefits in genetic testing, they also described fears of the potential negative consequences such as reproductive choices, increased stigma, increased pressures in the workplace, or discrimination from insurance companies.

While these participants tended to have a “nuanced understanding of epilepsy genetics and an exceptionally favorable disposition toward genetic research” due to prior participation in a genetics study and coming from families in which multiple relatives were affected, the perspectives they offer are an important aspect for future studies on genetic testing and research.