In a prologue to a discussion on "the benefits and burdens of genetic testing," Public Radio International's The World Science reporter Marina Giovannelli examines the ethical issues surrounding Huntington's disease research that began in Maracaibo, Venezuela, nearly 30 years ago. In 1993, geneticists pinpointed the gene associated with hereditary Huntington's disease, and since then, for around $1,000, individuals can opt to be tested for the presence of this gene to determine whether they are carriers, Giovannelli reports. However, many of the original study subjects from Maracaibo aren't aware that such a diagnostic test exists. "The test is widely available in the United States and Europe, but when I asked the families in Maracaibo about the genetic test, the response from a woman named Mariela was typical — 'Test? Test for what?'" Giovannelli says. A physician in Maracaibo tells her that the situation was an "injustice," especially since the people of Maracaibo "collaborated in the research."
Nancy Wexler of Columbia University, who led the Huntington's research in Maracaibo, tells Giovannelli that she's done her best to help the small fishing community — she's partnered with a Venezuelan doctor to establish a $6 million dollar clinic there, which provides psychiatric medicines — but that offering the test could actually cause confusion and harm. "How do we explain that there's a test we can do that we can look at their blood and [we] can tell with 100 percent accuracy — predict the future. How do we do that?" Wexler says.
Albert Einstein College of Medicine bioethicist Ruth Macklin tells Giovannelli that "it's unacceptably paternalistic for researchers to claim that 'this is bad news that we should not visit on people.' That really is a form of intellectual colonialism, saying that we know better, what's good for those people…it's better for them not to know there's a test."
Wexler says that the aim of her research was not to develop a diagnostic. "It was, and continues to be, a cure," Giovannelli reports, adding that Wexler "vows that if and when a cure is found the people in Maracaibo will get it, and get it free."
Listen to the entire news story, which includes a conversation with genetic counselor Mayana Zatz, here.