Research by a Robert Wood Johnson Foundation (RWJF) Health & Society Scholar is at the heart of a groundbreaking, federally-funded study into how genetic testing might affect epilepsy patients and their families.
Sara Shostak, PhD, MPH, and Ruth Ottman, PhD, have partnered on the research since 2004 when Shostak was a post-doctoral fellow in the RWJF Health & Society Scholars program (’04-’06) at Columbia University, where Ottman is an epidemiology professor. Now, Shostak is joining Ottman, the principal investigator, on a new project supported by a $2 million grant from the National Institute of Neurological Disorders and Stroke (NINDS).
Scientists increasingly are identifying genes that may play a role in epilepsy, a group of seizure disorders for which the causes remain largely unknown. Ottman and Shostak’s project will be the first quantitative study to document how epilepsy patients and their relatives assess the advantages and disadvantages of possessing more genetic information—and, when given the option of being tested, what their decisions and outcomes are.
During more than 30 years researching the genetic aspects of epilepsy, Ottman has become familiar with what she calls its “significant psychosocial dimensions” for patients, from living with stigma and discrimination to experiencing reduced rates of marrying and having families. Through her studies with a cohort of families in which multiple members had epilepsy, in 2000 Ottman discovered a gene common to patients with a rare form of the disease. For her, that discovery opened a door to further research, and larger questions.
“Finding a gene is considered to be a very important discovery in the field in which I work. You get a lot of kudos for it—but it has broader implications that I had not really thought about,” Ottman says now. The families in her cohort were told generally that a gene causing the familial form of epilepsy had been discovered. Under the terms of the research project, however, individual study participants were not told if they did or did not carry that gene.
“My own perspective had been that it would not be helpful for them to know,” Ottman says. “But then over the years after we found this gene, I began to feel increasingly uncomfortable because I realized that’s not up to me—we really needed to find out how they felt” about genetic testing. When Shostak, a medical sociologist, came to Columbia as an RWJF Health & Society Scholar, “it was really a golden opportunity to answer some of those questions,” Ottman says.
With an RWJF Health & Society Scholars program seed grant, Shostak devised a study in which 40 individuals from Ottman’s cohort—22 with epilepsy and 18 without—were extensively interviewed over a period of two years. The study findings, as reported in the September 2011 issue of the journal Social Science & Medicine, were revealing: “Most participants said they would have genetic testing if it were offered. They cited many potential benefits, including learning what caused epilepsy in their family, being better able to care and advocate for children at risk, reducing guilt and blame, providing an increased sense of control, and relieving anxiety in unaffected individuals who test negative.”
As Shostak analyzed the study interviews, she remembers two aspects that were particularly compelling: “First, the overwhelming number of people who told us that they were interested in having individual genetic information about their situation. And then, there was a subgroup of women who were telling us that they were refraining from having children because they thought they might be gene carriers and they were reluctant to have their own biological children without that information. So to have that information would have profound implications for their reproductive decision-making.”
Ottman also has a particularly strong memory from the study: “A moment when Sara said to me, ‘You really should develop a clinical test,’ because she had done enough interviews at that point to see that most of the people were saying they would want testing if it were offered. So I began the process to get a clinical test approved and it took a few years”—but with the approval, Ottman was able to secure the NINDS grant to support a study that included clinical testing.
In the study’s first part, all the participants from Ottman’s research—1,053 individuals from 115 families—will answer questions concerning their preferences about genetic testing, their beliefs about its benefits and harms, and their perceptions of issues related to epilepsy, including stigma. In the study’s second part, a subset of the cohort—21 families, a total of 195 individuals —will be offered clinical genetic testing. In other genetic disorders, Ottman says, “people have often said they would want testing if it was offered, but not followed through with testing when it was offered.” In this study, investigators will be able to evaluate actual uptake on the offer for testing, and follow up to gauge the impact.
As a co-investigator on the study, Shostak, now an assistant professor in the department of sociology at BrandeisUniversity, will conduct in-depth interviews with a subset of those offered testing—people who decline testing as well as people who accept testing and receive positive results, and people who accept testing and receive negative results. Another participant in the RWJF Health & Society Scholars program at Columbia University, Jo Phelan, PhD, will also be a co-investigator on the study. In Shostak’s view, the study project “exemplifies the goals of the Health & Society Scholars program, in that it brings together scholars from diverse disciplines—epidemiology, sociology, genetics—to better understand the diverse biological, social and psychological factors that shape the social experience of genetic information.”
Shostak and Ottman believe the new study will advance the goal they’ve shared since they began working together in 2004: to be sure epilepsy patients’ perspectives are reflected in genetic testing policy and practice.
“What’s at stake? Genetic information from the perspective of people with epilepsy and their family members,” was published in the September 2011 issue of the journal Social Science & Medicine. Dana Zarhin, a graduate student in the Brandeis University Department of Sociology was co-author of the study with Shostak and Ottman.
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