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.
With Mentors, Models, and #MeToo, Femtech Comes of Age
In her quest to become a tech entrepreneur, Stacy Chin has been an ace at tackling thorny intellectual challenges, mastering everything from molecules to manufacturing.
These mostly female leaders of firms with products addressing women's health concerns are winning in a big way, raising about $1.1 billion in startup funds over the past few years.
But the 28-year-old founder of HydroGlyde Coatings, based in Worcester, Mass., admitted to being momentarily stumped recently when pitching her product – a new kind of self-lubricating condom – to venture capitalists.
"Being a young female scientist and going into that sexual healthcare space, it was definitely a little bit challenging to learn how to navigate during presentations and pitches when there were a lot of older males in the audience," said Chin, whose product is of special appeal to older women suffering from vaginal dryness. "I eventually figured it out, but it wasn't easy."
Chin is at the vanguard of a new generation of "femtech" entrepreneurs heading companies with names like LOLA Tampons, Prelude Fertility, and Peach, bringing once-taboo topics like menstruation, ovulation, incontinence, breastfeeding, pelvic pain and, yes, female sexual pleasure to the highest chambers of finance. These mostly female leaders of firms with products addressing women's health concerns are winning in a big way, raising about $1.1 billion in startup funds over the past few years, according to the New York data analytics firm CB Insights.
"We are definitely at a watershed moment for femtech. But we need to remember that [it's] an overnight sensation that is decades in the making."
If the question is "Why now?", the answer may be that femtech leaders are benefiting from the current conversations around respect for women in the workplace, and long-term efforts to achieve gender equality in the male-dominated tech industry.
"We are definitely at a watershed moment for femtech," said Rachel Braun Scherl, a self-described "vaginepreneur" whose new book, "Orgasmic Leadership," profiles femtech leaders. "But we need to remember that femtech is an overnight sensation that is decades in the making."
In contrast with earlier and perhaps less successful generations of women in tech, these pioneers can point to mentors who are readily accessible, as well as more female VC and corporate heads they can directly address when making pitches. There's also a changing cultural landscape where sexual harassment is in the news and women who talk openly about sex in a business context can be taken seriously.
"Change is definitely in the air," said Kevin O'Sullivan, the president and CEO of Massachusetts Biomedical Initiatives, who sponsored Chin and has helped launch more than a hundred biotech companies in his home state since the 1980s.
Like a pinprick bursting a balloon, the #MeToo social movement and its focus on the prevalence of sexual harassment and assault is a factor in the success of femtech, some experts believe, provoking heightened awareness about the role of women in society -- including equal access to start-up capital.
"If such a difficult topic is being discussed in the open, that means more and more people are speaking out and are no longer afraid about sharing their own concerns," said Debbie Hart, president and CEO of BioNJ, a business trade group she founded in 1994. "That's empowering the whole women's movement."
The power of programs that allow young women to witness successful older women in leadership cannot be overstated.
Observers like Hart say that femtech's advent is also due to a payoff from longer-term investments in a slew of programs encouraging girls to pursue STEM careers and women to be hired as leaders, as well as changing social norms to allow female health to be part of the public discourse.
The power of programs that allow young women to witness successful older women in leadership cannot be overstated, according to Susan Scherreik of the Stillman School of Business at Seton Hall University in New Jersey.
"What I have found in entrepreneurship is that it's all about two things: role models and mentoring," said Scherreik, director of the university's Center for Entrepreneurial Studies.
One of Scherreik's top students, Madison Schott, is convinced that the availability of female mentors has been instrumental to her success and will remain so in her future. "It definitely is very encouraging," said Schott, who won the "Pirates Pitch" university-wide business start-up competition in April for an app she is developing that uses AI to guide readers to reliable news sources. "Woman to woman," she added, "you can be more open when you have questions or problems."
Programs that showcase successful females in leadership positions are beginning to bear fruit, inspiring a new generation of females in business, according to Susan Scherreik (at left), director of Seton Hall University's Center for Entrepreneurial Studies at the Stillman School of Business. Her student, Madison Schott (right), is the winner of a university-wide business start-up competition for an app she is developing.
While femtech entrepreneurs may be the beneficiaries of change, they also may be its agents. Scherl, the author, who has been working in the female healthcare sector for more than a decade, believes in persistence. In 2010, organizers of a major awards show banned a product she was marketing, Zestra Essential Arousal Oils*, from a gift bag for honorees. Two years ago, however, times changed and femtech prevailed. The company making goodie bags for Academy Awards nominees included another one of her products, Nuelle's Fiera, a $250 vibrator.
"We come from so many different perspectives when it comes to sex, whether it is cultural, religious, age-related, or even from a trauma, so we never have created a common language," Scherl said. "But we in femtech are making huge progress. We are not only selling products now, we are selling conversation, and we are selling a comfort with sexuality in all its complex forms."
[*Correction: Due to a reporting error, the product that was banned in 2010 was initially identified as Nuelle's Fiera, not Zestra Essential Arousal Oils. The article has been updated for accuracy. --Editor]
Worried About Eating GMOs? That’s Not the Real Problem
The 21st century food system is awash in ethical issues. To name just a handful: There's the environmental impacts of farming, the human health effects of diets based on animal products and processed foods, the growing clamor around food waste, and the longstanding concerns about agricultural labor. The last decade has seen the emergence of "ethical consumption," as people have been encouraged to avoid products that are associated with animal cruelty or unfair to farmers.
Misguided concerns about GMOs are missing the point altogether and distracting from a far more substantive ethical problem.
But consumers have never been so ignorant about where food comes from, and they are vulnerable to oversimplifications and faulty messaging. Many would include the first generation of crops from agricultural applications of recombinant DNA methods for genetic improvement—so called GMOs—among the foods they should avoid for ethical reasons. Unfortunately, these misguided concerns are missing the point altogether and distracting from a far more substantive ethical problem.
As we stand on the precipice of a new era in food and biotechnology – crops and animals with genomes altered through gene editing – it is more important than ever to let go of unnecessary fears and to pay attention to the real hazards of agricultural innovation.
But first, as a bioethicist with almost 40 years of experience working on issues in the food system, let me stress the overall context and rationale for trying to make changes in plant and animal genetics. Doing so, whether through conventional breeding or biotechnology, allows producers to meet the challenges of seasonal climate differences and increase yields.
And just because a food was created through ordinary plant breeding vs. genetic modification does not automatically make it safe. Things can and do go wrong in ordinary plant breeding, such as with potatoes and tomatoes. These both produce toxins in the green parts of the plant, and breeders exercise caution to ensure that toxins aren't transferred to edible parts.
Despite real risks, there is no regulatory oversight that protects us from these known hazards. We rely on the professional ethics of agricultural scientists. And GMOs are, in comparison, much more carefully tested and regulated. The claim that they are "unregulated" is just false.
We should not ignore the role that all gene technologies have played in displacing small farmers, depleting rural communities, and shifting economic control.
I do want to shift the public's attention away from the anti-GMO debate to more substantive questions about contemporary agriculture that really have little to do with where the genes in their food came from, or how they got there.
No matter how important genetic improvements might be in terms of total global food production, we should not ignore the role that all gene technologies—including breeding—have played in displacing small farmers, depleting rural communities and shifting economic control of agriculture into a small circle of powerful actors. Globally, these changes have had disproportionately harmful effects on women and people of color.
Combined with mechanization and chemicals, gene technologies have freed planters from their dependence on impoverished and poorly educated field hands, but they did nothing to help the fieldworkers transition to a new line of work. These are the real problems that deserve the public's and the science community's attention, not the overly narrow worries about eating GMOs.
But these problems are viewed as "not ours" by agricultural insiders, and they continue to be ignored by scientists whose focus is solely on biology. Many of the concerns that are today viewed as "urban problems" or "social issues" have origins in agriculture. For example, in California tomatoes, the development of mechanical harvesting led to a rapid concentration of ownership and the displacement of thousands of field hands. In the South, similar technologies displaced black farmers working land owned by whites, causing migration to urban centers and unskilled jobs. I must fault the science community for a lack of willingness to even take the thrust of these more socially oriented critiques seriously.
The new suite of tools for genetic modification that go under the name "gene editing" promise greater precision. They should allow scientists to target the locus for new genes in a plant or animal genome, and minimize the chance for causing unwanted impacts on gene functioning. This added precision is reducing some of the uncertainties in the mind of technology developers, and they have been expressing hope that their own confidence will be shared by regulators and by the public at large. In fact, the U.S. government recently issued a statement that gene-edited crops do not require additional regulation because they're just as safe as crops produced through conventional breeding.
It is indeed possible that the public doubts about genetically modified food will be assuaged by this argument. We can only wait and see. Whether or not gene editing will lead to more reflection about agriculture's complicity in problems of economic inequality or structural racism depends much more on the culture of the science community than it does on the technology itself.