Journal article

"It's good to know": Experiences of gene identification and result disclosure in familial epilepsies

Danya F Vears, Karen L Dunn, Samantha A Wake, Ingrid E Scheffer



Recognition of the role of genetics in the epilepsies has increased dramatically, impacting on clinical practice across many epilepsy syndromes. There is limited research investigating the impact of gene identification on individuals and families with epilepsy. While research has focused on the impact of delivering genetic information to families at the time of diagnosis in genetic diseases more broadly, little is known about how genetic results in epileptic diseases influences people's lives many years after it has been conveyed. This study used qualitative methods to explore the experience of receiving a genetic result in people with familial epilepsy. Interviews were conducted with indivi..

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Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

We thank the families for participating in our research. We are indebted to Professor Samuel Berkovic for his contribution to studying these families. This study was completed in partial fulfilment of the requirements for the Master of Genetic Counselling, University of Melbourne, Victoria, Australia. This work was supported by the National Health and Medical Research Council of Australia (Program Grant 628952 and Practitioner Fellowship 1006110 to I.E.S) and the Victorian Government's Operational Infrastructure Support Program.