A New York company says it can use saliva testing to help determine a young child’s likelihood of receiving an autism spectrum diagnosis. The test kit – administered in a medical office – became available nationwide last month.
Though the test, called Clarifi ASD, can be performed by medical providers in 49 states, it's not available in New York. That's because other states accept regulatory approval granted by the U.S. Centers for Disease Control and Prevention, while New York has its own clinical laboratory regulations process. Company officials say they will start the New York approvals process this month.
The founder of the Autism Science Foundation, which supports autism research, questioned the use of such a test when the field is still in its infancy.
"What they're doing is laudable," said Alison Singer, president and founder of the New York-based foundation. "This is where we want to be, we're just not ready to be there yet."
Interest in the test is growing. In its first two weeks on the market, 50 pediatric clinics in 22 states signed up for kits; information from clarifiasd.com was downloaded 15,000 times, according to Richard Uhlig, founder and CEO of Quadrant Biosciences, which developed Clarifi.
"The test does not return a definitive yes/no autism diagnosis," Uhlig said. "Instead it provides the likelihood that a child will receive an autism diagnosis."
The test is seen as an objective complement to a clinician's observations of a child's behavior and development that are used to diagnose autism.
Concerns about autism are often flagged by a pediatrician or a family member. An autism diagnosis is done by observing a child's behaviors and measuring developmental milestones. The waiting period for a comprehensive diagnostic evaluation can be months or even more than a year.
The developers of Clarifi say the results can help a family decide whether to start certain therapies while waiting for a more comprehensive neurological and behavioral evaluation.
Autism makes it difficult for these students to speak. So they spell.
The American Academy of Pediatrics does not endorse any particular screening tool for autism. The organization recommends pediatricians observe every child early for autism and make ongoing assessments.
“While research into biomarkers might be used at some point to assess risk for ASD, the diagnosis of ASD relies on careful attention to behavioral and developmental history and direct observation of behavioral symptoms that are defined by DSM-5 criteria,” said Dr. Paul Carbone, who chairs the AAP subcommittee on autism, referring to the Diagnostic and Statistical Manual of Mental Disorders, the authoritative guide for mental health providers.
Singer agreed. Epigenetic testing is "definitely an important place to be moving toward," said Singer, whose daughter, 22, and brother, 55, live with severe autism.
But right now, Singer said, the standard diagnostic method relies on observation and psychological testing.
How it works
A Clarifi test can be administered as early as 18 months and is recommended up to age 6. The test comes in a kit – somewhat similar to an Ancestry DNA kit. A medical provider must administer the actual swab test and send it to the lab. Meanwhile, the family provides vital information via a questionnaire on the Clarifi website.
Clarifi ASD examines a child's saliva to code "epigenetic biomarkers" – measurements of specific molecules that arise from brain activity. "The test is essentially sampling the products of brain activity," Uhlig said.
The test can gauge the probability of autism often at an earlier age than traditional developmental measures, its developers say, because it relies on data analysis rather than observation.
"The test is meant to guide clinicians as they make the diagnosis using traditional behavioral observations," said Dr. Steve Hicks of Penn State's College of Medicine, who worked on Clarifi ASD. "We can provide the first-of-its-kind biological evidence to support a diagnosis or lack of diagnosis based on what the clinician's observing in their office."
Another key researcher in Clarifi ASD's development is Frank Middleton of SUNY Upstate Medical University. Quadrant Biosciences is based at SUNY Upstate in Syracuse.
Quadrant has received funding through START-UP NY, the state's economic development arm, and the National Institutes of Health.
Brady Millican is vice president of Admera Health, a New Jersey-based molecular diagnostics company that has partnered with Quadrant Biosciences. He's also an autism parent – his son, now 29, was diagnosed with autism at age 3½, although the family had concerns as early as 18 months. "I've been in the autism community for over 25 years," Millican said. "This is something that everybody has been looking for. I'm proud to be involved in this."
While its developers call Clarifi ASD a breakthrough, "the idea that components in saliva are reflecting mood is not a new concept," Uhlig said. Quadrant is also working on using such measures to help with the detection of traumatic brain injuries, concussions and early-stage Parkinson's disease.
The developers of Clarifi say their test is an "adjunct" to traditional observational and neurological testing for autism.
"Tools that can enhance screening and get patients to full evaluations quicker can help people with autism get to interventions faster," said Dean Hartley, senior director of genetic discovery and translational science at Autism Speaks.
"This is a tool in the clinical toolbox," Hicks said.
A catch-all diagnosis
Approximately 1 in 59 children is diagnosed with an autism spectrum disorder, a 15% increase in autism diagnoses in just a couple of years, according to the U.S. Centers for Disease Control. People with ASD often face challenges with social skills, repetitive behaviors, speech and nonverbal communication.
Autism often serves as a catch-all diagnosis, and people with autism can have a range of abilities, from serious developmental delays to high intellectual abilities and strong talents. Climate activist and Time magazine's Person of the Year Greta Thunberg calls her autism spectrum diagnosis of Asperger's syndrome her "superpower."
Autism is believed to be tied to genetic and environmental factors.
To explain its range, many cite the adage: "If you've met one person with autism, you've met one person with autism."
Certain genetic syndromes, like Fragile X, are linked to autism. But such identified syndromes account for just a fraction of autism diagnoses.
Scores of genes have so far been linked to autism, and genetic testing for autism is still in its early stages.
The DSM-5 outlines the diagnostic criteria for autism based on a clinician's observation of behaviors and communication abilities.
The clinician's observations can help determine what kind of treatment will help that particular child. "Interventions will be different depending on each child's needs," Hartley said, "but they might include speech therapy for children with language delays, behavior therapies to prepare younger children for school and play environments, or occupational therapy for a range of challenges."
The cost of Clarifi approaches $1,000, and insurance doesn't cover it. Uhlig said that Quadrant plans to participate in the National Institutes of Health Commercialization Accelerator Program, which could lead to Medicaid coverage for Clarifi. Private insurance reimbursement often follows Medicaid coverage.
"It's one of the most important things we're working on," Uhlig said. "In the field of autism diagnosis and therefore access to early intervention, there's a huge socioeconomic gradient," meaning poor kids often get left behind.
Early diagnosis, early support
While a pediatrician may start expressing concerns about a child's development as early as 18 months, a full neurological and developmental workup can take up to 18 months or possibly longer to schedule and complete.
"The earlier we find autism or a specific delay, the earlier we can start therapies to help that child's specific needs," said Hartley of Autism Speaks. "Each bit of progress or new skill learned early on improves their abilities to build more skills progressively and leads to better outcomes. That's why early intervention is so important."
Test results, combined with behavioral observations, could help determine what a family can do in the meantime, Uhlig said.
"For a clinician in a rural setting without access to developmental specialists, a positive molecular result in a child with overt hand-flapping, poor eye contact and impaired social interaction might provide the confidence necessary to make an autism diagnosis and initiate services while waiting a year and a half for specialist referral," Uhlig said.
Biological evidence from the test could also help families whose child may exhibit some autism behaviors but are skeptical of a subjective expert diagnosis.
"Parents go through denial that their children have autism," said Millican of Admera Health, citing his own family's experience awaiting an autism diagnosis for his son. "If we have a test that is highly specific and sensitive, this would help parent make that move."
The goal is to "change the average age of diagnosis in the United States from 4 or 5 to the second year of life," Uhlig said. Early diagnosis could have a huge impact on a child's development well into adulthood.
"That time lost can have significant impact on that child," Millican said.
Singer said the importance of early intervention is "the one thing that everyone agrees on," calling it "the best weapon we have."
But she said it's important to proceed carefully with new diagnostic and treatment tools. "You're dealing with a population of parents that are devastated," she said of parents who suspect their child may have autism. "We warn parents – we urge them to look at evidence-based practices."
Millican said his own son's diagnosis was slowed by a pediatrician in South Carolina who was reluctant to make an autism diagnosis on his own, and neurological testing that took more than a year to schedule.
Would an earlier diagnosis for his son made a difference? "That's the great mystery," said Millican.
Follow reporter Nancy Cutler on Twitter @nancyrockland
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This article originally appeared on Rockland/Westchester Journal News: Clarifi ASD: A saliva test could predict autism diagnosis in children