The news that children with autism have rare genetic variants unique to them is big, fancy science. It comes from the largest study ever on the genetics of autism, involving the DNA of 996 children with autism and their families, and more than 120 scientists in 11 countries. Not only did children with autism have rare genetic variations, the researchers found, they didn't share those variations with their parents, meaning that the variations were not inherited. But if you're the parent of a child with autism, news like this that doesn't include a cure, better treatments, or even a clear-cut cause doesn't sound so exciting.
Not so, says Stanley Nelson, a geneticist at the University of California-Los Angeles, who sent me an E-mail this morning so vehement that I just had to call him up and get the scoop. Clearly, finding more autism genes could make it easier to identify the causes of autism and discover potential treatments. So I was at first surprised by what Nelson said. "This work is grossly inadequate, even though it reflects about 15 to 20 years of sample collection, tens of millions [of dollars] in molecular testing, and analytical effort," he wrote, adding that this biggest-ever study, published online in Nature, explains the genetic basis of only about 3 percent of diagnosed cases of autism.
But it turns out Nelson wasn't dissing the new study from the Autism Genome Project at all. He thinks it is terrific science. What frustrates him is that it took so much time and money to find parents of children who were willing to donate a blood sample for genetic research: more than $4,000 per family, Nelson says, including a home visit by a trained researcher. Or, families had to live near a major research institution like UCLA.
Better progress can be made through efforts like the Interactive Autism Network, a new web-based project designed to make it faster and easier for families to contribute to the study of the genetics of autism. More participants mean a clearer view of how genetic changes are involved in autism, which probably has multiple causes. Nelson is happily partisan; he is in charge of implementing the new genetic testing database for IAN, which is based at the Kennedy-Krieger Institute in Baltimore. To participate, parents fill out an online form about their child, and then are E-mailed directions to one of 1,600 LabCorp sites near their home for a free blood draw. Cost: About $100 per DNA sample, plus a $25 gift card to parents as a thank-you.
"IAN can handle thousands of registrants every week," Nelson adds. "Not everyone might want to participate. It involves a needle stick." But if families do decide to brave the needle, their genetic information is shared anonymously with scientists around the world. "I think a lot of parents are interested in finding the genetic causes of autism," Nelson says.
The world's largest genetic database on autism, the Autism Genetic Resource Exchange, has genetic samples from about 10,000 people with autism. That's the database used by the researchers in the new Nature study. Nelson's dream is to have the number of people in the database at 300,000, about how many children in the United States have been diagnosed with autism.
That's an audacious goal, but Nelson thinks it's the only way scientists will be able to crack the mystery of autism, which he thinks will ultimately turn out to be a constellation of rare diseases, as opposed to a "single big entity with everyone in the same world." Finding the stars in that constellation will happen faster with the help of parents and siblings of children with autism, and those children themselves.