The chances a child will receive a diagnosis of autism has increased 72 percent over the last five years, a dramatic rise that has stumped many health care experts. While there is no cure for autism, early detection and treatment in the form of behavioral therapy can dramatically improve the long-term outcome for patients. Unfortunately, many of the telltale symptoms of autism do not manifest in children until they are several years old.
One attempt to solve this problem comes from SynapDx, a startup founded by life science veteran Stan Lapidus and backed by Google Ventures. SynapDx is developing a blood test it hopes will be able to detect autism using genetic markers, allowing for a much earlier and more accurate diagnosis. Currently the average age of diagnosis for autism is six years old. "We hope to drive that number way down," says Lapidus.
Autism has increased 72 percent over the last five years
SynapDx is in the process of running a clinical trial on 660 patients across 20 different hospitals and clinics around the nation. If successful, the trial, which is expected to be finished next year, will provide the evidence needed for regulatory approval. A number of universities, hospitals, and private firms are also working to develop a blood test for autism, and Lapidus expects a highly competitive market.
Lapidus has a history of creating better diagnostic tools. In the late 1980s he built a new kind of Pap smear that more accurately identified cervical cancer. The company he founded around that, Cytyc, went public in 1996 and eventually reached a market cap of $3.15 billion. By that time Lapidus had already begun a new company, Exact Sciences Corporation, an applied genomics startup that developed a DNA-based method for early detection of colorectal cancers.
Despite this history, Lapidus acknowledges that going after autism is a particularly fraught endeavor. "When you have a disease without a clear cause or cure, there will always be additional stress," he tells The Verge. "The political tension around autism is a byproduct of families who don’t feel they can get the services or answers they want."
Dr. Gary Goldstein is the chair of the Autism Speaks scientific advisory committee and president and chief executive officer of the Kennedy Krieger Institute, one of the nation's leading treatment centers for autism and other developmental disorders. He has been encouraged by what he’s seen of SynapDx, although he cautions it's too early to tell how the clinical trials will turn out. "They are working with the best hospitals in the nation and they have raised significant capital, so clearly there is something there."
The average age of diagnosis for autism is six years old
But even if SynapDx clinical trials succeed, Goldstein questions how a blood test for autism would be effectively implemented. "Of the 4 million children born every year, 1 percent will be born with autism. So does that mean we test every single child who is born? Does that make sense if each test costs a few thousand dollars? Even a few hundred? How does this really scale?"
The test would most likely act as a complement to behavioral trials run by doctors at places like the Krieger Institute. Since autism occurs across a spectrum and can have a constellation of interrelated symptoms, diagnosis can be difficult. A blood test could add an objective confirmation to a pediatrician’s hunch, giving parents confidence to begin behavioral therapy.
Beyond the political and logistical complications, SynaDx faces a challenging environment for life-science companies in general. "I have a number of friends and peers working in this industry who have had very good companies implode on them in the last year or two," says Lapidus. "There are an increasing number of regulatory uncertainties, and the traditional investors in the space are pulling back." A recent study found venture capital funding for the life sciences has been falling since 2008 and is now roughly one third the amount it was back in 2007.
Google Ventures is pushing into life sciences
Into this void some new players, like Google Ventures, have begun backing a new breed of life science startups. Bill Maris, the firm’s managing partner, was instrumental in getting Google’s new life science project, Calico, off the ground. "The best diagnostic tests of our era will be developed at the nexus of advanced genomics and cutting edge informatics," says Google's Andy Conrad, who will sit on SynapDx’s board.
In other words, because the autism test relies on genetics, it allows Google Ventures to apply the techniques that have worked so well for its parent company in search. "SyanpDx has very clean data coming in," says Krishna Yeshwant, a general partner with Google Ventures. Along with funding, Google Ventures is helping the company leverage cutting-edge IT, data storage, and machine learning tools for the processing of large amounts of genetic information.
For each test on a single child, "We do 10-20 million reads of your genetic material and we have a team of PhDs working on how to crunch those numbers." says Lapidis. "One way to think about Google is as a company that built a great business around mathematics. We hope to do the same thing for diagnosing disease."