NEW YORK (GenomeWeb News) – Researchers from Columbia University and Brandeis University plan to use a $2 million grant from the National Institute of Neurological Disorders and Stroke to survey and investigate attitudes about taking genetic tests for epilepsy.
The project, led by principal investigator and Columbia University Professor of Epidemiology Ruth Ottman, will involve in-depth interviews and analysis and clinical genetic testing.
"Genetic testing is rapidly moving into the clinical arena for epilepsy, but we still know very little about the psychosocial impact of genetic information on people with epilepsy and their family members," Ottman told GenomeWeb Daily News today.
"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," she said. "The ways in which genetic information might alter the experience of living with epilepsy are unclear."
In the first part of the effort, the researchers will survey 1,053 individuals from 115 families containing multiple individuals with epilepsy to evaluate whether they would like to take genetic tests, and what they see as the benefits and downsides of testing, as well as their views on how testing could affect the stigmatization of epilepsy and the quality of their lives.
The researchers also will offer clinical genetic tests to individuals from 21 families containing 195 individuals with an uncommon form of epilepsy called autosomal dominant partial epilepsy with auditory features, or ADPEAF. Half of these families were previously found to have specific gene mutations, but they have never been offered their individual results or the chance to engage in linked discussions about their views.
As part of the study of ADPEAF, in-depth qualitative interviews will also be performed. This part of the research will be led by Sara Shostak, assistant professor in the department of sociology at Brandeis University, which will join in the project under a $200,000 sub-contract. "The intention of the in-depth interviews is to explore, in much greater depth than can be done in a survey, what genetic information actually means in peoples' lives and how they plan to make use of it,", said Shostak in a statement.
In previous research, the investigators found that people are concerned about genetics-related issues when they think about future generations and having families. In addition, they found that people with epilepsy and their families hope that genetic information about the disease could help to lessen stigma and discrimination by influencing public understanding about the disease.
Currently, around 25 genes have been associated with specific epilepsy syndromes.