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Aiming for an early diagnosis of autism

Mark Smith used to be a special agent for the FBI, working out of the Manhattan office and solving cases of organized and white-collar crime.

These days, he works on the fourth floor of the University at Buffalo Center of Excellence in Bioinformatics & Life Sciences, on the Buffalo Niagara Medical Campus, helping a startup company dig deeply into research that helps identify genetic traits common to those with autism.

It’s the latest chapter in a busy life for Smith, 57, an Amherst native who graduated with a bachelor’s degree in accounting from Canisius College and then joined the FBI.

Smith also worked in security for Pfizer in New York City, and in top human resource jobs at PepsiCo in Minneapolis and Blockbuster Entertainment in Fort Lauderdale, Fla., before returning to Western New York in the late 1990s. He has since served in administrative roles at New Directions Youth and Family Services, and Summit Health Care Solutions.

“I like to tell people I sold drugs, made soda pop and rented videos,” he said, before he returned home after 18 years away and joined the human services ranks.

He was HR chief and business development officer at Summit when Salt Lake City-based Lineagen hired him last year and set him up in an office across the hall from the Hunter’s Hope Foundation clinical research office. The office (pronounced Lynn-E-a-gin) is fueled in part with a $500,000 Start-Up NY grant, and promises to add nine more employees in this region.

Meanwhile, Smith, director of business development for Lineagen, has the responsibility of spreading the word about the First Step Plus test that collects genetic material through a mouth swab and compares it with previous material collected from those known to fall on the autism spectrum.

An autism diagnosis covers a range of symptoms, from mild to severe. They may or may not include intellectual challenges and an inability to speak, though repetitive movements and at times anti-social behavior are among its hallmarks.

Doctors have been reluctant to diagnose it until a child is 6 or older, but genetic testing – which must be prescribed by a doctor – shows promise in identifying and treating it much earlier.

Q. What causes autism?

What we feel, at Lineagen, is that your kid will have a genetic anomaly – they have too much of something on one gene location, or a deletion, not enough or none – and we know that those anomalies will make a kid predisposed for one of the symptoms that come from autism. But then there’s an environmental impact on that kid that could either hold the behaviors at bay or exacerbate them. So a positive hit on a test may or may not lead to a kid who’s developmentally delayed. You and I sitting here today may have had an anomaly that said, ‘Watch out. Look at this kid closely at 12, 18, 24 months,’ but because of our environmental upbringing – how we were fed, how we were interacted with, disciplinary style, environmental conditions – we had the right mix where if we had the anomaly, it didn’t manifest itself.

Q. What can an earlier diagnosis mean?

Across the country, we’re starting to do all these looks at relationships between a particular behavior – eye contact, response to Applied Behavioral Analysis (behavioral therapy) – and determine, ‘Is there a genetic connection?’ … The earlier we can get to these kids, the better it is for the families. There’s higher independence, better likelihood to be employed, better likelihood to be a homeowner. For society, someone is more likely to be a taxpayer.

Q. How much does the test cost?

It’s covered by private insurance, so cost to families is whatever their insurance design is. (There’s often a copay.)

Q. How much would this test be without insurance.

Today, it’s down to about $3,800.

Q. What do you get?

We don’t sell a product, we sell a service. These are patients. First, you get a cheek swab instead of a blood draw. … Each one of our kids and families and doctors are assigned a licensed genetic counselor. That genetic counselor is with this treatment team – including other health and support team members – and is on demand for as long as you need them. Then, the DNA hits a lab. It’s run on our proprietary array. We worked with Philadelphia Children’s Hospital with 9,000 kids and identified 84,000 anomalies, duplications or deletions that tie into development delay. We have a cytogeneticist look at our anomalies and they’ll put together a 54-page report which is sent electronically or by mail to the doctor. The doctor is told, ‘We have a positive result, a negative result or an unknown result.’

Q. So this is a little bit like fortune telling? It’s kind of a clue as to what might happen in the future?

Right. We use words like ‘at risk,’ ‘propensity.’ This gets you looking at that kid closer, in an early intervention world, so you’re going to figure things out sooner. So it’s not going to be that 8-year-old that’s getting thrown out of school. It’s going to be that 12-month-old where the doctor knew early on, ‘This kid should be in educational intervention.’ Early intervention with developmental delay is key. It’s the home run. It’s like penicillin for infections.

Q. Looking ahead with this sort of testing, what might be possible when it comes to autism and other serious diseases?

We’ve got two strategic efforts right now: to answer more and more questions about autism; and, number 2, we’re looking at a pediatric MS study, we’re going to do a COPD study, and we just learned recently that the markers will identify cerebral palsy. So we’re looking to take our proprietary platform and see if it predicts other things.

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