At the University of Rochester Medical Center, more than 1,000 people are currently enrolled in a study of Huntington’s disease on the condition that they never learn whether or not they carry the genetic mutation responsible for causing the debilitating neurodegenerative disease.

The goal of the Prospective Huntington’s At Risk Observational Study (PHAROS), which began in 1999, is to chart the natural history of Huntington’s, particularly its early, almost imperceptible changes. Knowing about the early symptoms and signs, the researchers hope, will encourage the development of sorely needed therapeutic trials for treatments that could potentially slow the progression of the disease.

The vast majority of the participants, who do not currently suffer from Huntington’s, do not know if they carry the mutated gene for the disease, and the researchers have promised never to reveal whether they do. The double-blind study ensures neither the patients nor the physicians evaluating them will ever be given the results of genetic tests.

“I don’t think we could do this study without that,” said neurologist Ira Shoulson, who is leading the research team. “Although we’ve had the gene for the disorder for almost 15 years now, only a very small proportion of those at risk for Huntington’s disease actually choose to undergo testing for a variety of reasons, not the least of which is because there’s nothing they can do about it if they have the gene.”

Huntington’s disease is a fatal, genetic disorder that causes emotional disturbances and deterioration in motor and psychological function. Onset typically occurs at about age 40, and there is no treatment or cure. Huntington’s is inherited in an autosomal dominant fashion, meaning that the child of a Huntington’s sufferer has a 50 percent chance of inheriting the disease. According to the Huntington’s Study Group, which designed PHAROS, in North America, 30,000 people have Huntington’s disease, while another 150,000 are considered to be at risk for it.
The researchers’ promise not to reveal subjects’ gene status preserves more than just the scientific integrity of the study—it also maintains the participants’ rights to make their own decisions about learning their genetic destinies. 

“Some people would prefer to live their lives not knowing if they have a guillotine on the back of their neck,” said Sara Tobin, a researcher at Stanford University’s Center for Biomedical Ethics. “In some cases it may be unethical not to tell people that they’re at risk. But I don’t think that this is one of them.”

Because the subjects enrolled in PHAROS already know that they’re at risk—each has a relative who has developed Huntington’s—and because there’s no successful intervention, the researchers are behaving ethically, Tobin said.

But while PHAROS avoids one ethical quagmire, the study has created some unexpected new ones.

Publishing results—particularly preliminary ones—might compromise the effort to maintain secrecy with the study’s participants. For instance, if the researchers publish a paper that says irritability and a particular motor impairment have turned out to be reliable early indicators of Huntington’s, participants who experienced those symptoms may self-diagnose themselves as having the disease.

In other cases, the researchers may notice signs of functional impairment before a participant does. Such situations have already arisen in PHAROS and raise even thornier questions about whether to intervene and when.

“It’s a very difficult situation because they’re balancing public health versus the individual’s right to not know,” Tobin said. “That’s very problematic. And I don’t think there’s a good or easy answer to that.”

Members of the research team have been dealing with such incidents on a case-by-case basis, said Kevin Biglan, another neurologist involved in the study. If they truly believe that a person is a danger to himself or others, they may refer him to a doctor for further examination.

“What do you do about a person who is clearly compromised and you know is in the position of [an airplane] pilot?” Biglan said.

Originally published August 24, 2006


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