Can Genetic Testing Help Shed Light on the Autism Epidemic?
Autism cases are still on the rise, and scientists don't know why. In April, the Centers for Disease Control (CDC) reported that rates of autism had increased once again, now at an estimated 1 in 59 children up from 1 in 68 just two years ago. Rates have been climbing steadily since 2007 when the CDC initially estimated that 1 in 150 children were on the autism spectrum.
Some clinicians are concerned that the creeping expansion of autism is causing the diagnosis to lose its meaning.
The standard explanation for this increase has been the expansion of the definition of autism to include milder forms like Asperger's, as well as a heightened awareness of the condition that has improved screening efforts. For example, the most recent jump is attributed to children in minority communities being diagnosed who might have previously gone under the radar. In addition, more federally funded resources are available to children with autism than other types of developmental disorders, which may prompt families or physicians to push harder for a diagnosis.
Some clinicians are concerned that the creeping expansion of autism is causing the diagnosis to lose its meaning. William Graf, a pediatric neurologist at Connecticut Children's Medical Center, says that when a nurse tells him that a new patient has a history of autism, the term is no longer a useful description. "Even though I know this topic extremely well, I cannot picture the child anymore," he says. "Use the words mild, moderate, or severe. Just give me a couple more clues, because when you say autism today, I have no idea what people are talking about anymore."
Genetic testing has emerged as one potential way to remedy the overly broad label by narrowing down a heterogeneous diagnosis to a specific genetic disorder. According to Suma Shankar, a medical geneticist at the University of California, Davis, up to 60 percent of autism cases could be attributed to underlying genetic causes. Common examples include Fragile X Syndrome or Rett Syndrome—neurodevelopmental disorders that are caused by mutations in individual genes and are behaviorally classified as autism.
With more than 500 different mutations associated with autism, very few additional diagnoses provide meaningful information.
Having a genetic diagnosis in addition to an autism diagnosis can help families in several ways, says Shankar. Knowing the genetic origin can alert families to other potential health problems that are linked to the mutation, such as heart defects or problems with the immune system. It may also help clinicians provide more targeted behavioral therapies and could one day lead to the development of drug treatments for underlying neurochemical abnormalities. "It will pave the way to begin to tease out treatments," Shankar says.
When a doctor diagnoses a child as having a specific genetic condition, the label of autism is still kept because it is more well-known and gives the child access to more state-funded resources. Children can thus be diagnosed with multiple conditions: autism spectrum disorder and their specific gene mutation. However, with more than 500 different mutations associated with autism, very few additional diagnoses provide meaningful information. What's more, the presence or absence of a mutation doesn't necessarily indicate whether the child is on the mild or severe end of the autism spectrum.
Because of this, Graf doubts that genetic classifications are really that useful. He tells the story of a boy with epilepsy and severe intellectual disabilities who was diagnosed with autism as a young child. Years later, Graf ordered genetic testing for the boy and discovered that he had a mutation in the gene SYNGAP1. However, this knowledge didn't change the boy's autism status. "That diagnosis [SYNGAP1] turns out to be very specific for him, but it will never be a household name. Biologically it's good to know, and now it's all over his chart. But on a societal level he still needs this catch-all label [of autism]," Graf says.
"It gives some information, but to what degree does that change treatment or prognosis?"
Jennifer Singh, a sociologist at Georgia Tech who wrote the book Multiple Autisms: Spectrums of Advocacy and Genomic Science, agrees. "I don't know that the knowledge gained from just having a gene that's linked to autism," is that beneficial, she says. "It gives some information, but to what degree does that change treatment or prognosis? Because at the end of the day you have to address the issues that are at hand, whatever they might be."
As more children are diagnosed with autism, knowledge of the underlying genetic mutation causing the condition could help families better understand the diagnosis and anticipate their child's developmental trajectory. However, for the vast majority, an additional label provides little clarity or consolation.
Instead of spending money on genetic screens, Singh thinks the resources would be better used on additional services for people who don't have access to behavioral, speech, or occupational therapy. "Things that are really going to matter for this child in their future," she says.
This Startup Uses Dust to Fight Sweatshops
"Dust thou art, and unto dust shalt thou return." Whoever wrote that famous line probably didn't realize that dust actually contains a secret weapon.
"We have developed the capability to turn dust into data that can be used to trace problems in the supply chain."
Far from being a collection of mere inanimate particles, dust is now recognized as a powerful tool filled with living sensors. Studying those sensors can reveal an object's location history, which can help brands fight unethical manufacturing.
"We have developed the capability to turn dust into data that can be used to trace problems in the supply chain," explains Jessica Green, the CEO of Phylagen, a San-Francisco-based company that she co-founded in 2014.
So how does the technology work?
Dust gathers everywhere—on our bodies, on objects—and that dust contains microbes like bacteria and viruses. Just as we humans have our own unique microbiomes, research has shown that physical locations have their own identifiable patterns of microbes as well. Visiting a place means you may pick up its microbial fingerprint in the dust that settles on you. The DNA of those microbes can later be sequenced in a lab and matched back to the place of origin.
"Your environment is constantly imprinted on you and vice versa," says Justin Gallivan, the director of the Biotechnology Office at DARPA, the research and defense arm of the Pentagon, which is funding Phylagen. "If we have a microbial map of the world," he posits, "can we infer an object's transit history?"
So far, Phylagen has shown that it's possible to identify where a ship came from based on the unique microbial populations it picked up at different naval ports. In another experiment, the sampling technology allowed researchers to determine where a person had walked within 1 kilometer in San Francisco, because of the microbes picked up by their shoes.
Data scientist Roxana Hickey, left, and CEO Jessica Green of Phylagen.
One application of this technology is to help companies that make products abroad. Such companies are very interested in determining exactly where their products are coming from, especially if foreign subcontractors are involved.
"In retail and apparel, often the facilities performing the subcontracting are not up to the same code that the brands require their suppliers to be, so there could be poor working conditions," says Roxana Hickey, a data scientist at Phylagen. "A supplier might use a subcontractor to save on the bottom line, but unethical practices are very damaging to the brand."
Before this technology was developed, brands sometimes faced a challenge figuring out what was going on in their supply chain. But now a product can be tested upon arrival in the States; its microbial signature can theoretically be analyzed and matched against a reference database to help determine if its DNA pattern matches that of the place where the product was purported to have been made.
Phylagen declined to elaborate further about how their process works, such as how they are building a database of reference samples, and how consistent a microbial population remains across a given location.
As the technology grows more robust, though, one could imagine numerous other applications, like in police work and forensics. But today, Phylagen is solely focused on helping commercial entities bring greater transparency to their operations so they can root out unauthorized subcontracting.
Then those unethical suppliers can – shall we say – bite the dust.
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.
Surfing for Science: A Fin Sensor Is Making Waves
For David Walden, a Southern Californian, surfing is a lifestyle, not a hobby. The 38-year-old works nights at a seafood restaurant to leave his mornings free for surfing.
While the surfers are doing what they love, they are also collecting information that is helping scientists better understand the ocean.
"Once you fall in love with the ocean, you need it like a daily cleanse or refresher," he says. "The positive mental and physical effects of the ocean, the endorphins and dopamine, keep you addicted in a good way."
Given his dedication to surfing, Walden was delighted when he became one of more than 200 surfers last year to test Smartfin, a 5-1/2-inch surfboard fin that contains a circuit board, a rechargeable battery, a GPS device, a sensor that captures temperature to one-hundredth of a degree, and a motion sensor that tracks the movement of the waves. While Walden and his fellow surfers are doing what they love, they are also collecting information that is helping scientists better understand the health of the near-shore ocean and how its chemistry is shifting due to climate change.
"I'm excited to be a part of it," Walden says. "I like to tell people I surf for science."
Back on shore, the surfers download the Smartfin data via a smartphone app so they can be accessed by scientists and other interested parties. (You can see where Smartfin surfers go at this interactive map.)
By putting sensors directly onto surfboards, oceanographers can collect data to help them better understand the global-warming related changes occurring in coastal oceans in temperature, salinity, and pH, all properties that have huge implications for the species that live in near-shore ecosystems.
There is much unknown about coastal waters because it's so difficult to obtain meaningful measurements. Traditional methods to monitor the close shore, such as bottle samples and buoys, are time consuming and expensive and tend to get damaged by the surf.
The Smartfin is the brainchild of Dr. Andy Stern, a retired neurologist. He and his brother-in-law, sculptor and filmmaker Todd McGrain, run The Lost Bird Project, a nonprofit devoted to raising awareness about climate change and other environmental issues. Stern brought his super fin idea to engineer Benjamin Thompson, who spent several years creating a prototype in his garage workshop. Smartfin was further developed by scientists at the Scripps Institution of Oceanography at the University of California at San Diego.
"The big challenge was to make a sensor small enough to fit in the fin but still produce good measurements," says Andreas Andersson, an associate professor of geoscience research at Scripps.
The Surfrider Foundation, a surfer-led nonprofit environmental organization, came aboard two years ago to distribute the Smartfin to its San Diego members.
Smartfin has also made a splash with scientists at the University of the Sunshine Coast in Queensland on the eastern coast of Australia. They are using the fin's temperature sensor to better understand how climate change is affecting the movement and distribution of marine life. And at the Plymouth Marine Laboratory in Plymouth, United Kingdom, the Smartfin's precise temperature readings of the near-shore ocean's surface are being used to improve the accuracy of satellites that monitor the ocean from hundreds of miles away.
"It's hard to talk about climate change in a way that's not boring or gloomy, but there's nothing gloomy or depressing about surfers and Smartfin."
"The hope is that Smartfin will improve the satellite measurements, which could improve the retrieval of temperature data around the world," says Dr. Phil Bresnahan, Smartfin's lead engineer at Scripps. In the future, the fin will include sensors to measure pH, chlorophyll (algae), dissolved oxygen, and turbidity (water clarity).
Stern envisions a time when thousands of surfers, paddle boarders, and other water enthusiasts worldwide will have Smartfins and be downloading data for scientists and environmentalists. Right now, there are approximately 70 surfers in the San Diego area using Smartfin and an additional 30 globally.
Scientists have plenty of evidence that global warming is largely caused by humans. Now they are trying to figure out what the long-term effects of climate change may be. For example, scientists are trying to predict which sections of coral reef, which house 25 percent of marine species, are most vulnerable so interventions can be developed to save them. Because of its small size, Smartfin is ideal to measure temperature changes in coral reefs.
Smartfin was also intended to be an educational tool. "It's a great way to start a different conversation about climate change," says Stern. "It's hard to talk about climate change in a way that's not boring or gloomy, but there's nothing gloomy or depressing about surfers and Smartfin. People want to hear more."
Turning surfers into citizen scientists makes perfect sense, says David Pasquini, 35, a longtime surfer who works for the British Consulate General's office in Oceanside, Calif. "Anyone who spends a lot of time in the ocean is aware of the changes happening in the ecosystem, the climate," says Pasquini. "Everyone asks, 'What can I do?'" Surfing with Smartfin, Pasquini feels like he is giving back.
"I know the data will be analyzed and eventually used to make a policy that helps with climate change. That's a great feeling--just by surfing, doing something you love, you're contributing."