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.
Rooting for Your Ancestors Doesn’t Make You Racist
Editor's Note: This op/ed is in response to our Big Question of the month: "Should shared genetics play any role in encouraging sports fans to root for a certain team?"
A soccer fan can usually explain why he chose to love his team, but there is seldom any logic to it.
If it takes a mail-order DNA test to get you into the game, then swab your cheek and join the party.
Maybe he likes the colors, or maybe his mom grew up in the city where the team plays. Maybe a certain elegant Dutchman (Marc Overmars) played for a certain London club (Arsenal) during the most impressionable years (the late '90s, roughly) in the life of a young person (me), and that poor child continued to follow that poor club decade after losing decade, even though he lived in Florida, where games were only sometimes shown on TV and he missed most of them anyway, and, besides, this was long after the Dutchman had ceased being an employee of that club to which the young Floridian had absolutely no spiritual or economic connection.
I digress.
Maybe the fan simply picked the most dominant team at the moment he discovered the sport, thereby choosing Manchester United, which is just another way of saying he gets off on the suffering of others. Or maybe he took a mail-order DNA test, found out he was 1/12 French, and decided it would be Les Bleus or bust this summer at the World Cup.
A company called 23andMe hopes that millions of American fans, casting about for a team to support since their own failed to qualify for the World Cup, will take that last path. The TV spots hawking the service are already blanketing Fox Sports. And while I happen to think that soccer is a highly interesting sport for lots of better reasons, my position is that if it takes a mail-order DNA test to get you into the game, then swab your cheek and join the party.
The point is, soccer is an exercise in the arbitrary. Your favorite player will probably miss the goal. The referee will probably make the wrong call. Your team will probably lose. You will probably get angry and then you will get sad and then, next week, you'll start the cycle again, over and over, ultimately infecting your offspring with the same illogical obsession so that you'll have someone else to be miserable with.
Choose misery with a chance of joy, I say. Choose empathy and random connection.
Maybe, because of a DNA test, you'll choose to care about the national soccer team of Egypt or Colombia or South Korea. The best that can happen is that you might plug in with a group of people who live far away in Egypt or Colombia or South Korea. You might, for a moment, share in their suffering and delight in their triumphs. You might empathize with strangers for no other reason than the fact that your great great great great great great great great great great grandmother was born in a crude hovel somewhere in the Nile Delta.
Whoa! Cool! That's the splendor of soccer… and advances in our understanding of the human genome, I suppose.
A leading bioethicist has suggested that 23andMe's campaign could inflame racial animosity, but that seems unlikely to me, because if we could alter the allegiances and behavioral patterns of actual soccer hooligans—for better or worse—by appealing to science and reason, they would already be extinct. No, the worst that could happen is that you'll waste a few hours of your life screaming at a TV show featuring two groups of men who are being paid millions of dollars to determine who is more proficient at placing a small orb between two sticks.
Choose misery with a chance of joy, I say. Choose empathy and random connection. Choose Iceland, even though it's unlikely you have any Icelandic ancestors, because it's the smallest country ever to qualify for the World Cup and what did Iceland ever do to you? Just don't choose Germany—they don't need your help.
[Ed. Note: To read the counter viewpoint, click here. Then visit leapsmag on social media to share your opinion: Who wins this debate?]
Soccer Fans, Don’t Root for a Team Based on Genetics
Editor's Note: This op/ed is in response to our Big Question of the month: "Should shared genetics play any role in encouraging sports fans to root for a certain team?"
23andMe is taking a lot of heat as one of the DNA aggregators whose databases may not be secure from prying third-party eyes. That is a huge issue, but the company is engaging in even more troubling behavior—using genetics to sponsor racism.
The ad campaign urges that you choose to root for a team based on genetics—theirs and yours.
There is plenty to condemn when it comes to racism in international sports. Fans taunting black and minority athletes is a huge problem. No sport has been as beset by racial taunting as soccer. Which is why the current advertising campaign by the genetic testing company 23andMe and Fox sports is especially foul.
With the U.S. men's team eliminated from the 2018 FIFA World Cup in Russia, many potential American fans were left without a primary rooting interest in the upcoming summer tournament. And that would be a disaster for Fox, which will be carrying the games.
The network teamed up with 23andMe to urge American soccer fans not to tune out the World Cup. Instead the ad campaign urges that you choose to root for a team based on genetics—theirs and yours. Given the fact that ethnicity and race are mainly cultural and social constructs, not biological, this suggestion seems more 19th than 21st century in terms of its justification.
The ads say, "root for your roots." Send your spit off to 23andMe for a DNA test and you might discover most of your genes came from one of the countries that did qualify for the biggest event in soccer. Saudi Arabia, for example. Or Panama, Argentina, Serbia, Senegal or Iran. So if you and the team have the same genes - voila, you have someone and something to root for. Soccer hooligan bigots everywhere must be thrilled by this twaddle.
There is no correlation between genetics and who is a member of a nation's soccer team. People from many ethnic and racial backgrounds play for many nations. There is no Argentinian or Croatian team genotype. And why would information about your genetic ancestry lead you to root for a particular athlete or team? How about the team's skill, not their skin color or biological makeup?
What genetic difference is it that we are going to root for anyway—the immune system differences between Switzerland and Egypt?
And are there really genes to be found that determine with certainty that you or the team you are watching are really Panamanian? Hardly. Panama is a political entity that came into existence in 1903 not a biological species. And, do we really need an ad campaign telling us, falsely, that the nations of the Earth can be sorted out neatly into clear racial groups based on their heredity? What genetic difference is it that we are going to root for anyway—the immune system differences between Switzerland and Egypt? Markers for bone density between Argentinians and Russians?
The 'root for your roots' campaign comes at a horrible time, just when FIFA is trying to root the racism out of the World Cup. It is built on bogus science about the genetics of how we define nations and ethnic groups. It appeals to the racism in us to pick a team we can root for. And it reinforces racial and ethnic stereotypes about human behavior and nationhood that are rooted in history, culture, economics, colonialism and prejudice, not ancestry, genetics or biology. This is not the way to introduce the world to genetic testing.
[Ed. Note: To read the counter viewpoint, click here. Then visit leapsmag on social media to share your opinion: Who wins this debate?]