Utah company Lineagen introducing test to diagnose autism

SALT LAKE CITY — Against the backdrop of a dramatic increase in the incidence of autism, a Utah company today will formally launch genetic testing and related counseling to help family doctors and pediatricians with early diagnosis of some autism spectrum disorders (ASD).

Lineagen's FirstStepDX testing looks for genetic factors known to be associated with ASD and developmental delay, said Michael Paul, president and CEO of the company. He said studies have shown that autism treatment, called "Early Intensive Behavioral Intervention," is effective in children as young as 18 months, so early diagnosis is critical.

"Kids are not getting diagnosed early enough," he said. "There's a watch-and-wait cycle in many pediatrician's offices so the time to referral can be over a year. Then there's more wait to see a specialist." Typically, diagnosis occurs around age 4 or 5.

Autism spectrum disorder is the fastest-growing developmental disorder in America, believed to affect 1 in every 110 children, including up to 1 in 58 boys. It's a "pervasive developmental disorder" with symptoms that are both behavioral and complex across three domains: language, repetitive behaviors and social behaviors. Children with ASD frequently fail to relate to their environment or age-appropriate activities. Symptoms usually appear by age 3.

Early diagnosis makes a profound positive difference to ASD children and their families, according to major studies, including "The Early Start Denver Model" recently published in the journal Pediatrics. Early behavioral therapy improves IQ, communication and social skills and the ability to "maintstream" children, it said. It may in rare cases remove the diagnosis of ASD.

Autism's heritability factor is estimated at about 70 percent. Breast cancer heritability is around 30-40 percent, Paul said. Most diseases also have an environmental component. But the strength of that genetic component in autism is why genetic counseling is so important for families, and Paul said that is why Lineagen built it into the test in the report that explains the results, guidance for the local doctor and the ability to talk directly to one of Lineagen's genetic counselors as part of the testing process.

Consumers cannot buy the test directly but must go through a physician. Many insurance policies will cover its cost.

Lineagen also offers an on-line version of the Modified Checklist for Autism in Toddlers (M-CHAT) at www.m-chat.org , a developmental screening tool for toddlers 16 to 30 months old,?and plans to add other free Web tools.