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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, a developmental screening tool for toddlers 16 to 30 months old,?and plans to add other free Web tools.

The test focuses on known genetic variations linked to autism and related disorders. For example, Fragile X syndrome, is one of the most common known single gene causes of autism, and thirty percent of patients diagnosed with Fragile X also have some degree of autism. Some variations carry known increased risk of having more than one child with an ASD, while others do not. Paul said there may be gene variations not yet identified that also indicate an ASD.

In a release announcing the genetic test, Lineagen said the American College of Medical Genetics "now recommends FirstStepDx's genetic testing technology as standard of care for apparent developmental delay, autism spectrum disorder and other conditions of childhood development."

The tests is already in use in some rural doctors' offices as a prelaunch test. And the response has surpassed expectation.

One of those doctors, Miguel Knochel of the Payson Pediatrics Canyon View Medical Group, said he's found Lineagen's service "extremely useful in the evaluation process" and he plans to offer the test "right away to all my patients with potential clinical features of ASD or other developmental delays, especially for children with distinctive facial features, minor anomalies or a family history of ASD."

The test was lauded by Brigitte Kracl of Payson after it confirmed a diagnosis of Angelman Syndrome in her son.

Lineagen has teamed up with two leaders in autism genetic research. The University of Utah has identified more disease-causing genes than any other single institution. And The Children's Hospital of Philadelphia is recognized as a leading ASD researcher. Lineagen has worked with both to commercialize novel genetic markers associated with ASD, Paul said.

Autism facts

Autism is fastest-growing developmental disability, with historical annual growth reaching 10-17 percent

About 13 percent of a half-million children a year have a developmental disability; 40,000 of them will be diagnosed with an autism spectrum disorder

1 in 110 children have autism. It's 1 in 58 boys.

$67,000-72,000 direct medical and nonmedical costs per person a year

$3.2 million lifetime cost of care for person with autism