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.
Where would you turn if you wanted the best advice about trying a new drug? A doctor with years of specialized training? A website with opinions from leading experts in the field? Maybe a review article by a trustworthy medical reporter. Or, maybe even go right to the source — an article about the drug in the peer-reviewed medical literature.
Or you could choose to get advice from someone whose education ended with high school and who almost certainly has had no training in pharmacology or scientific methodology. In America the answer is, sadly, the high school graduate if he or she is a huge celebrity.
Kardashian appears to have blessed a drug she never used and had no basis to endorse.
Drug manufacturers know this. They turn to celebrities, no matter how ignorant, ill-informed, money grubbing or air-headed, to pitch their goods directly to you on TV and the internet.
The latest example of this reliance on the utterly unqualified is the use of the surgically reengineered, reality show TV star Kim Kardashian to endorse a pill for women suffering from morning sickness during pregnancy. Kim, whose science training, whatever it was, ended when she graduated California's Marymount high school, recently offered this assessment of the medication:
"You know how sick I was while pregnant; I could barely get out of bed. That was before I found a safe & effective med to treat my morning sickness when diet & lifestyle changes didn't help. I hear there's a new formulation of the drug combination I took that's made to work faster & longer. If you're pregnant & feeling sick & changing your diet & lifestyle doesn't work, ask your doctor about Bonjesta® (doxylamine succinate/pyridoxine HCl). Most common side effect is drowsiness. Bonjesta.com for info."
She appears to have blessed a drug she never used and had no basis to endorse. And whether she got all the possible important side effects out there is not clear. In 2015, her internet post lauding another morning sickness drug, Diclegis, made by the same company, Duchesnay, now pushing Bonjesta, earned her $500,000 and Duchesnay a warning letter from the FDA for false and misleading advertising. Duchesnay dealt with the FDA and went on its merry way coming up with new meds relying on confirmation of their value by Kim.
Artificial demand creates more expense downstream for insurers, payer programs, and patients.
It seems pretty likely she was handsomely paid for her kind words about Bonjesta--payment that, if it occurred, is not disclosed in her endorsement or in most commercials in which celebrities tout drugs, vaccines and devices.
Legislators and patients often wonder why the cost of drugs in America is so high relative to the rest of the world. Well, one reason is the rest of the world does not tolerate direct-to-consumer ads aimed at ginning up demand when touted by actors, soap opera stars, sports stars, reality tv icons, quiz show hosts and others selling their fame so you will use a company's drug. Increasing the demand through celebrity endorsement allows companies to jack up their prices. Duchesnay did just that! Artificial demand creates more expense downstream for insurers, payer programs, and patients.
We treat marketing drugs on a par with marketing cosmetics, dishwashers, and fast food. And we get what Kim and other media celebs are paid for: useless information from unqualified sources who can grab eyeballs and get you to pester your doctor about what your idols say works.
We all know the typical astronaut accessories—the EVA suit, the oxygen tanks, the radio assembly. But there's an invisible part of each space mission that's often overlooked: the trillions of microorganisms that hitch a ride.
Observing responses of pathogens in space could help scientists figure out how to outsmart them when they cause trouble on Earth.
Dr. Sarah Wallace is a NASA microbiologist who aims to keep microbes from causing problems for U.S. astronauts aboard the International Space Station. According to Wallace, research on microorganisms in space has more than cosmic importance. It can also reveal things about our health here on Earth:
1) Avoiding disease isn't all about maintaining a sterile environment.
NASA has a great track record of keeping the crew healthy on space missions. But surprisingly, it's not from having kept the space flight environment as sterile as possible.
Wallace says, "We [monitor] the environment but unless we find something that's medically significant, or [in] super high numbers, we're not going to do anything."
Not only is it impossible for astronauts to live in completely sterile quarters—crew members, after all, are microbe-shedding machines—but it may not even be desirable, given what we now know about the human microbiome. Scientists have found that the entire community of microorganisms (bacteria, archaea, fungi, and viruses) living in and on us likely have an active role in keeping us healthy. This means that down on the ground we need to let go of the germophobe idea that eradicating all microbes is always better for our health.
2) Disease-causing microbes change their behavior under different conditions.
Remember the recent E. coli O157:H7 outbreak linked to romaine lettuce? We're still grappling with a lot of pathogen problems here on Earth. One reason is that scientists are still learning which strategies these disease-causing microorganisms are capable of employing under different conditions.
Space missions are associated with a major shift in gut microbiome composition—as shown in NASA's twin study.
Wallace says experiments with Salmonella Typhimurium showed that the pathogen became more virulent in space. Yet curiously, the opposite seemed to happen to Staphylococcus aureus under space-flight-like conditions—it became more benign.
"The way these organisms have evolved, certain triggers [in the space flight environment] might be dictating how they're responding," Wallace says.
Observing these responses could help scientists figure out how to outsmart the pathogen when it causes trouble on Earth. "It's giving us some great insights into how we could target them differently in the future," she explains.
3) Major shifts in the gut microbiome could affect health in specific ways.
Scientists still have a lot to learn about which changes in an adult's gut microbiome actually cause a change in health status. In fact, microbiome-focused therapeutics companies are in hot pursuit of these connections.
Space missions are associated with a major shift in gut microbiome composition—as shown in NASA's twin study, which followed astronaut Scott Kelly during a year aboard the ISS while his identical twin brother Mark (a retired astronaut) stayed on the ground. Scott experienced simultaneous changes in telomere length and bone formation; were these related to the gut microbial differences?
Wallace says a soon-to-be-published study of nine additional astronauts could help answer this question. The research may reveal how closely gut microbiome shifts track health outcomes, and the reversibility of the changes.
She emphasizes the science from her lab isn't meant to help only the small minority of humans who will ever go to space: "That's always our goal—that our research is helping people on Earth."