The Huntington’s gene was found in 1993 after an epic search. The discovery led to a test that can identify who will develop the disease. Because it can be performed prenatally, the test allows a woman to choose to abort a fetus carrying the gene — to date, that is the only way of preventing the disease.
Two decades after the gene’s discovery, there’s still no way to cure or delay the disease. It has come to symbolize the limits of genomic knowledge. That was evident at a recent symposium at the National Institutes of Health examining scientific progress since the completion of the Human Genome Project 10 years ago. Several speakers noted that the gene test lets healthy people know they’re headed for a disaster they can’t do anything about.
“Nobody wants to know that, and we shouldn’t push it on anyone,” said one of the speakers, David Botstein of Princeton University, with just a bit of rhetorical exaggeration.
He wanted to know
Charles Sabine agrees that the test shouldn’t be pushed on anyone. But after a long internal debate, he decided to take it.
Sabine learned that his father had Huntington’s disease in January 1994 as he was about to fly to Prague for a story for NBC. His father had developed a twitch and some odd, obsessional behaviors, and as part of the diagnostic work-up became one of the first people in the world to get the Huntington’s gene test. Sabine had never heard of the ailment. He was told only that it was incurable and that he and his brother had a 50-50 chance of getting it, too.
“It was a terrible shock,” Sabine recalled. “But it isn’t a disease you can tell people about. It takes a very long time for the ramifications to sink in. ”
One of the ironies of Huntington’s is that while it is a disease of relentless generational recapitulation, it is often invisible in a family’s history because its sufferers were shunned or institutionalized. That was true in Sabine’s family.
“I used to hear, in my childhood, about this black-sheep uncle, but I never even saw a photograph of him. It was only much later that I found out he had died in a care home for people with this disease,” Sabine said.
Meanwhile, Sabine’s brother John, now 58, feared he was already showing signs of the disease. A litigator with a London law firm, he’d recently suffered stage fright in court — an uncharacteristic experience. Within a year of hearing of his father’s diagnosis, John got tested and found out that he, too, carried the mutant Huntington’s gene.