Elsevier

Epilepsy Research

Volume 112, May 2015, Pages 64-71
Epilepsy Research

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

https://doi.org/10.1016/j.eplepsyres.2015.02.011Get rights and content

Highlights

  • Families value knowing the genetic cause of their epilepsy.

  • Participants hoped for benefit both for their families and others with epilepsy.

  • Views varied on the utility of genetic results for reproductive decision making.

  • Participants expect results to be translated into improvements in clinical care.

Summary

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 individuals with familial epilepsies in whom the underlying genetic mutation had been identified. Recorded interviews underwent thematic analysis. 20 individuals from three families with different epilepsy syndromes and causative genes were interviewed. Multiple generations within families were studied. The mean time from receiving the genetic result prior to interview was 10.9 years (range 5–14 years).

Three major themes were identified: 1) living with epilepsy: an individual's experience of the severity of epilepsy in their family influenced their view. 2) Clinical utility of the test: participants expressed varying reactions to receiving a genetic result. While for some it provided helpful information and relief, others were not surprised by the finding given the familial context. Some valued the use of genetic information for reproductive decision-making, particularly in the setting of severely affected family members. While altruistic reasons for participating in genetic research were discussed, participants emphasised the benefit of participation to them and their families. 3) ‘Talking about the family genes’: individuals reported poor communication between family members about their epilepsy and its genetic implications. The results provide important insights into the family experience of genetic epilepsies and communication within families. This information can be used to inform the development of guidelines for genetic result disclosure and genetic counselling for individuals and families with epilepsies.

Introduction

Technological advances in genetics have lead to increasing integration of disease gene mutational analysis into clinical practice for many disorders including cystic fibrosis and hereditary cancers (Half et al., 2009, Massie et al., 2010, Weitzel et al., 2011). There has been considerable success with gene discovery in the epilepsies, predominantly in monogenic epilepsy syndromes. While genetic results often provide answers to the cause of a patient's disorder, little attention has been paid to the positive and negative outcomes from disclosing these results in epilepsy.

In particular, research into the impact of receiving genetic information for individuals and families with epilepsy, both in clinical and research settings, has lagged behind with the focus often on heritable cancers where positive mutation testing indicates the individual is at-risk of developing the condition rather than confirming a diagnosis (Forrest et al., 2008). In these studies, adverse psychological responses to genetic findings are uncommon and often transient (Marteau and Croyle, 1998, Palmer et al., 2002). It is not known whether these outcomes can be extrapolated to other conditions, with different clinical features, prognoses, health implications, inheritance patterns, and in different contexts, including the research setting.

Since discovering the first gene for epilepsy in 1995, the recent burgeoning in epilepsy gene identification has meant we need to understand the impact of gene discovery on patients and their families. In cases where genetic causes have been identified, no research has been conducted to assess the benefits and harms of disclosing this genetic information to individuals and their wider family with epilepsy, although the critical nature of gaining this information has been emphasised (Ottman et al., 2010).

The purpose of this study is to investigate the experience of receiving a genetic cause for epilepsy in the research setting and the impact of this information on the individual with epilepsy and their relatives.

Section snippets

Recruitment

Potential participants were identified from three families who previously participated in the Epilepsy Genetics research program at The University of Melbourne at Austin Health. As our research program was commenced almost 25 years ago, we were able to study individuals who had received a genetic cause for their epilepsy a mean of 10 years prior to study. This provided an opportunity to evaluate the long term impact of their genetic research finding after many years.

Two methods of sampling were

Results

Two families had the familial epilepsy syndrome of Generalised Epilepsy with Febrile Seizures Plus (GEFS+); one had a mutation of the GABAA receptor gamma 2 subunit gene (GABRG2) and the other had a mutation of the sodium channel beta 1 subunit gene (SCN1B) (Marini et al., 2003, Scheffer et al., 2007). The third family had the syndrome of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) associated with a mutation of the nicotinic acetylcholine receptor alpha 4 subunit gene CHRNA4 (

Discussion

This is the first study to explore the impact of gene identification on individuals with familial epilepsy. It is of particular interest to review the long term impact of these findings on people's lives after a mean interval of 10 years since gene discovery. This allowed us to gain insights into the experience of receiving a mutation-positive result in individuals with familial epilepsy, and their partners.

Conclusions

This study explored how the experience of participating in epilepsy genetic research and receiving a genetic cause for people's epilepsy impacted on individuals and their families. We identified that individuals have expectations of benefits for themselves, their families and for others with epilepsy. As well as receiving more information about the gene identified in their family, participants want to understand the clinical utility of their genetic results, including how this information could

Conflicts of interest

None of the authors has any conflict of interest to disclose.

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

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