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Ten years ago this month, President Bill Clinton announced a milestone in genetics. American scientists had created the first draft sequence of the human genome. They had learned the order of the three billion letters that make up our DNA code. But today, the medical revolution that many thought would follow has not arrived. In some ways, genetic discoveries have made things more complex for doctors and patients. In Venezuela, American scientists conducted a landmark genetic study nearly three decades ago. As the World’s Marina Giovannelli discovered, the subjects of the study are still waiting to benefit from that research.
(Photo: Marina Giovannelli)
It usually sets in around age 30 or 40, and there is no cure.
In the early 1980′s, American scientists pinpointed the gene that causes the disease, thanks to research conducted on an extended family in Venezuela.
The result is a test that can help affected families plan their futures. It is widely available in the United States, but not in the remote part of Venezuela that is home to the people who made the test possible.
In the Northwest part of the country, on the shores of Lake Maracaibo, men eke out a living as fishermen. Families of eight, 12, sometimes 15 people live in tiny, bare houses. The people here are isolated and poor.
So when American researchers came to the community 30 years ago, it was a big deal, says a woman named Inelda. She says the scientists came to collect biological samples.
“They drew blood,” says Inelda. “And from the men, they took a more intimate sample. Semen.”
The researchers came here because it’s home to the world’s largest concentration of people with Huntington’s Disease. Huntington’s is a hereditary brain disorder that causes muscles to jerk and spasm uncontrollably.
When the researchers came, Inedla’s husband was very sick with Huntington’s, or what locals here simply call ‘El Mal’, or ‘The Sickness’.
“My husband died from ‘El Mal’,” says Inelda.
Now Inelda’s adult daughter Wilma is sick with Huntington’s. Wilma perches on a plastic chair in the dusty alley outside her mother’s two-room cinder block home. Her rail thin body flails wildly and her face contorts as she tries to say hello.
Huntington’s is caused by a faulty gene that’s passed from one generation to the next. The child of a parent with Huntington’s has a 50-50 chance of inheriting the disease.
Thanks to the research done here, American scientists found that gene in 1993. Scientists also developed a genetic test that can tell people from affected families if they inherited the gene, and if they too will fall ill. It can help people plan their lives and decide whether to have children and how they should spend the healthy years they have left.
The test is widely available in the United States and Europe. But when asked about the genetic test, the response from a woman in Maracaibo named Mariella was typical.
“Test? Test for what?,” says Mariella.
Many people who participated in the original research have no idea the genetic test exists. And the few who do know about it do not have access to it.
Ernersto Solis is a doctor and geneticist in Maracaibo. He calls the situation an injustice.
“Individuals in Maracaibo have a right to access whatever technology exists,” says Solis.
The test is available in Venezuela’s capital, Caracas. But that is more than 400 miles away and can cost upwards of $1,000. Solis says that is out of reach for the families in Maracaibo.
“In the US or in Europe, whoever has the disease in their family has the option to decide, I want to get the test, I don’t want to know. They don’t even have that option, even after they collaborated in the research,” says Solis.
Solis criticizes his own government for not providing the test. He says the government-run health care system should make the test available to these families. But since it doesn’t, Solis and others argue the American researchers who developed the test should provide it.
Ruth Macklin is a professor of bioethics at Albert Einstein College of Medicine in New York. She says ethical guidelines clearly place that responsibility on the researchers.
“The international guidelines that exist, such as the Declaration of Helsinki, all mandate disclosure of information and research and that the products of research, in this case the diagnostic test, be made available to the population that has been subject of study,” says Macklin.
The American researcher who lead the project in Maracaibo is Nancy Wexler, a neuropsychologist at Columbia University in New York. She agrees that she owes the families. She says she feels a tremendous responsibility towards them and even a sense of kinship.
“You know my family also has HD. We are all family. We are all related,” says Wexler.
And she says she has done her best to give back. Wexler partnered with a Venezuelan doctor to establish a Huntington’s Disease clinic for the people in Maracaibo. Wexler has raised more than $6 million for their care.
“We provide very expensive medicines for psychiatric problems. A lot of people have hallucinations, delusions, violent outbursts, antidepressants,” says Wexler.
But one thing the clinic does not provide is the genetic test. Wexler says the people there don’t really understand the concept of genetics.
“How do we explain that there is a test we can do where we can look at their blood and tell with 100% accuracy, predict the future, you know, how do we do that?”, says Wexler.
And she fears the test could cause real harm, especially to those who are told they have the gene. In fact she has asked people in Maracaibo how they would respond if she was able to say with certainty that they were going to get sick. One man, Wexler says, pointed to a tall bridge over the nearby lake.
“And he said, see that bridge, if you tell me I’m going to get Huntington’s and you tell me there is nothing you can do about it, I’m going to jump of that bridge and kill myself,” says Wexler.
But not everyone responds negatively to the test. In fact studies in developed countries find that people who choose to get tested generally adapt psychologically to whatever news they receive.
And bioethicist Ruth Macklin says, in Maracaibo, the decision to take the test should be left to each individual and not scientists from America.
“It is unacceptably paternalistic for researchers to claim this is bad news we should not visit on people. That is really a form of intellectual colonialism that we know what’s better for those people, and it’s better for them not to have a test,” says Macklin.
But practically speaking, Nancy Wexler doesn’t see how the test would help the people of Maracaibo. One obvious benefit of the test would be for family planning. People who test positive for the gene might chose not to have children. But, Wexler says, in Maracaibo people who already show symptoms of the disease continue to have kids. And almost no one uses birth control.
“I think whether they had access to the test, if would make absolutely no difference whether there are fewer babies born,” says Wexler.
Nancy Wexler stresses the point of her research was not a test; it was and continues to be a cure. She vows that if and when a cure is found, the people in Maracaibo will get it first, and they’ll get it free.
Back in Maracaibo, Inelda, whose husband died of Huntington’s, says she is grateful to Nancy Wexler. She says she would gladly participate in more research, for example to test a possible treatment or cure.
“I would welcome back any Americans who came to do more research,” says Inedla.
In the meantime, all she can do is care for her children.
Today, there is not enough food to go around.
Inelda makes sure her sick daughter Wilma gets a small plate of breakfast.