CU professor to interview epilepsy sufferers and their families in depth

If you carried a gene that increased your risk of having an epileptic seizure, would you want to know? Do perceptions of stigma and discrimination against people with epilepsy affect interest in genetic testing for the disease?

Sara Shostak, assistant professor in the department of sociology, along with principal investigator Ruth Ottman, professor of epidemiology at Columbia University, and other collaborators were recently awarded a $2 million grant from The National Institute of Neurological Disorders and Stroke (NINDS) to learn more about these questions.

Ottman and Shostak have been working together since Shostak was a post-doctoral fellow in the RWJ Health & Society Scholars Program at Columbia. The new project will build on research they started in 2006, results of which were published in the September issue of Social Science and Medicine in the article "What's at stake? Genetic information from the perspective of people with epilepsy and their family members."

In their new research, a survey and clinical genetic testing will take place at Columbia and in-depth qualitative interviews and analysis will be done under a $200,000 subcontract at Brandeis.

While genetic testing is available for several epilepsy syndromes, Shostak says, very little data has been produced on the psychosocial impact of genetic information on people with epilepsy and their families. Research in this area is urgently needed, she says, because of the many challenges that come along with epilepsy, which, historically, have included severe stigma and discrimination. People with epilepsy report lower rates of marriage and reproduction and reduced health-related quality of life.

Currently approximately 25 genes have been associated with specific epilepsy syndromes. Shostak and Ottman's team will focus on autosomal dominant partial epilepsy with auditory features (ADPEAF).

"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," says Shostak.

The two-part study will begin with a survey of 1,053 individuals from 115 families to evaluate whether they would like undergo genetic testing, what they perceive to be benefits and downsides and their anticipated measures of quality of life and epilepsy-related stigma. Next, researchers will offer clinical genetic testing to individuals from 21 families containing 195 individuals with ADPEAF.

While half of the families were previously found to have specific gene mutations, they have never been offered individual results or the opportunity to engage in linked discussions. And with the 2008 passing of the genetic information non-discrimination act (GINA) some concerns have shifted.

Shostak says that two main findings emerged from her previous research.

One, even when subjects are not asked about genetics in the context of their own personal reproductive decision-making, genetics always raised questions about the effects that the information may have on future generations regarding how to have a family.

The second finding, which Shostak says she found surprising, was that people with epilepsy and their family members have a profound hope that genetic information about epilepsy could lessen the stigma and discrimination associated with epilepsy by changing public understanding.

In the past, Shostak explains, epilepsy has been thought to be everything from a form of demon possession to something supernatural, a way of being touched by the gods. It's also been thought to be a form of madness or enfeeblement.

"People who have epilepsy are often aware of these historical stereotypes, and the stigmas have been really severe," says Shostak. "People with epilepsy were institutionalized, forbidden to marry and subjected to forced sterilization. Epilepsy was a big focus of the eugenics movement in the United States."

This is a disease with an incredibly tortured social history, Shostak says. And in that context, better science for genetic research shows up for people in these families as a way to change how epilepsy is seen or understood by the public.

At the same time, many interviewees said that learning that one carries a gene associated with epilepsy might cause people to live life less fully than otherwise; that it might cause them to hold themselves back in some way.

Shostak's research centers on emerging relationships between the biosciences, medicine, subjectivity and social organization. She is the author of a forthcoming book tentatively titled "Defining Vulnerabilities: Genes, the Environment, and the Politics of Population Health," which is under contract with the University of California Press.

Shostak says that her commitment to this research is also focused on trying to ensure that both the process of offering genetic counseling and testing, and the guidelines that different professional groups develop to guide genetic counseling and testing for epilepsy, are informed by the perspectives of people who are affected.

"A lot of research on the ethical, legal and social implications of genetic information is done by people with expertise in bioethics or law," says Shostak. "We think that people whose families have been affected by this condition have a certain kind of expertise as well."