New genetic test may improve autism diagnosis

Posted at 4:35 PM, Feb 24, 2013
and last updated 2013-02-24 18:35:03-05

SALT LAKE CITY -- A new genetic test may lead to a more accurate diagnosis for individuals with autism spectrum disorder by looking at key genetic markers.

Geneticists say that a more accurate diagnosis leads to better treatment and support because families know more about what they’re dealing with. The new test is a product of a bio-tech company based in Utah called Lineagan.

The test has already changed things for some Utah families. Brigitte Kracl said she questioned whether she had done something wrong to cause her son’s developmental disorder. Days after a test at the Lineagan labs, she discovered her son Cameron was not actually autistic.

Her son actually has a rare genetic disorder called angelman syndrome, which seems similar to autism. Despite these similarities, the treatment and medications can be very different.

Kracl said dealing with the disorder requires patience and a focus on the positive.

“You have these milestones with an infant, and every one that we would miss, it kind of broke your heart,” she said. “Now we know we're not going to hit this milestone, so don't focus on it. Don't worry about it. Focus on what he can do.”

The Brown's are another family who have learned from this test. Tracy Brown said they questioned whether their daughter, Mattie, was autistic.

"Mattie was probably two when we started questioning how far behind she was," Brown said.

When the genetic test was performed, it was discovered Mattie had a partially deleted chromosome--something the family could never have predicted. Mattie's sister, Jakenzie, said it was helpful to see those results.

"It was kind of a closure, jut like a name for it, because you never really knew what to say," she said. "But I don't think it really changed much else, I mean we still love her and take care of her and treat her the same."

Lineagan markets its test primarily to pediatricians who identify children likely to fit on what’s called the autistic spectrum. The test costs more than $5,000, and it is covered by some insurance policies.

Some experts warn families not to put too much stock in these tests because they can have false-negatives or confusing results.

Lineagan representatives said their test has twice the accuracy of other genetic testing options, and it looks specifically at developmental disorders like autism.

Michael Paul, Lineagan, said genetic testing makes sense for autism and related conditions.

“Autism at its base is highly genetic in nature,” he said. “Some studies have estimated that up to 70 to 80 percent of autism is genetic in nature. That doesn't mean there's not environmental component.”

The genetic test does not replace clinical or psychological testing for autism and other related disorders; it is usually preformed after these tests have been done.