Science
An essential medical device fails people of color. A clinic is suing to fix that
Roots Community Health Center was slammed in 2020, with lines for its COVID-19 testing stations stretching around the block and exam rooms full of people struggling to breathe.
Patient after patient at the East Oakland clinic extended their fingers so that healthcare workers could clip on a pulse oximeter, a device that measures the degree to which red blood cells are saturated with oxygen. For healthy people, a normal “pulse ox” reading is typically between 95% and 100%.
The Centers for Disease Control and Prevention had instructed providers to give oxygen therapy to any COVID patient with a pulse oximeter reading below 90%. Like their counterparts around the country, Roots doctors advised concerned patients to buy inexpensive pulse oximeters so they could monitor their levels at home.
As the pandemic ground on, it became clear that Black and brown patients were dying of COVID at disproportionately high rates, both across the U.S. and in Roots’ own Alameda County.
In the rare hour when she wasn’t in the clinic, Roots founder and Chief Executive Dr. Noha Aboelata paged through medical research in search of answers that might help her patients, the vast majority of whom were Black or brown.
One paper in the New England Journal of Medicine stopped her cold. University of Michigan researchers examined records of thousands of hospitalized COVID patients and looked for instances of “occult hypoxia” — a situation when a patient’s pulse oximeter reads in the healthy range, but their actual blood oxygen levels are dangerously low. The researchers found that this happened to Black patients nearly three times as often as it did to white patients.
Dr. Noha Aboelata said it was “devastating” to realize that researchers had known for years that patients with dark skin were more likely to get false readings from pulse oximeters.
(Carolyn Fong)
Aboelata recalled the “devastating feeling” of diving further into the literature and realizing that this disparity was not a new discovery.
Research dating back to 1990 found that inaccurate pulse oximeter readings were more common in Black patients than non-Black ones. In 2005, detailed lab experiments showed that pulse oximeters frequently overestimated blood oxygen levels in patients with more skin pigmentation.
“This device is really used almost like a vital sign, like you would use a blood pressure cuff,” Aboelata recalled. “How horrified you would feel if you suddenly found out that your blood pressure cuff didn’t work on a certain demographic of your patients?”
She alerted colleagues to the findings and investigated the effect the devices had on the fates of COVID patients of color. She asked the Food and Drug Administration to require pulse oximeter makers to test their devices on people of color and to warn consumers about the heightened risk of false readings. Attorneys for Roots sent letters to companies that made or sold pulse oximeters in California asking them to improve their products and disclose their limitations.
When little changed, Roots filed a lawsuit in November against CVS, Walgreens, GE Healthcare and nine other companies that make, sell or distribute pulse oximeters in California.
“The pigmentation-derived inaccuracies of pulse oximeter readings in people with darker skin consistently skew — or are biased — in one dangerous direction: showing that their blood is more oxygenated than it is in reality,” the lawsuit states. “Individuals with darker skin who use the devices are no less entitled to accurate readings than individuals with lighter skin.”
The suit asks that the companies either find a fix or place warning labels on the products to alert users that skin pigment may affect results.
Before pulse oximeters were widely adopted in the 1980s, the only way to gauge a patient’s blood oxygen saturation was to draw a sample of blood from their arterial vein, a painful procedure that had to be followed by immediate laboratory analysis. The portable, noninvasive oximeters were “a true innovation,” said Dr. Phil Bickler, a neuroanesthesiologist who directs the Hypoxia Research Laboratory at UC San Francisco.
“It’s arguably one of the most important clinical monitors ever devised,” Bickler said, second only to the thermometer.
Clinical research coordinator René Vargas Zamora opens a drawer of pulse oximeters at UC San Francisco’s Hypoxia Lab.
(Corinne Purtill/Los Angeles Times)
A pulse oximeter works by shining a light that passes through skin, blood and tissues in the finger and then measuring how much light comes out the other side.
Oxygen-rich blood absorbs more infrared light. So does melanin, the pigment that helps determine skin, hair and eye color. As a result, patients with darker skin tones are more likely to get pulse oximeter readings that show their blood oxygen saturation to be higher than it actually is.
Skin pigment isn’t the only variable that can skew those results. Cold hands, trembling fingers, incorrect probe placement, even nail polish can throw a reading off by a few percentage points too. Knowing this, doctors traditionally used the pulse ox as one data point among many when determining a patient’s course of treatment.
Then COVID-19 hit. As emergency rooms filled and oxygen tanks grew scarce, the CDC anointed pulse oximeter readings as the official standard in its guidelines for COVID care: Below 90%, the patient should be started on oxygen therapy. Above that, it was the doctor’s call.
As the sheer volume of patients grew, so did the number of people with occult hypoxia. Their pulse ox readings were 92% or higher, yet they often had shortness of breath, erratic heartbeats, headaches, confusion and other symptoms of low oxygen saturation.
Many providers around the country also noted that patients with occult hypoxia were more likely to have darker-toned skin.
“Honestly, we had no idea what to make of it,” said Dr. Michael Sjoding, a pulmonologist at the University of Michigan.
He and his colleagues initially wondered whether something about the SARS-CoV-2 virus itself made it harder to detect hypoxia.
Then Sjoding came across an article by Amy Moran-Thomas, a medical anthropologist at MIT. After spending sleepless nights monitoring her husband’s pulse oximeter readings as he suffered through COVID, Moran-Thomas began digging into the history of the device.
She found the 1990 paper that noted hypoxic Black patients were more likely to get deceptively high readings. She found the 2005 study from Bickler’s lab noting the devices were more likely to overestimate oxygen saturation in patients with dark skin than in those with light skin, results the lab confirmed in a follow-up study two years later.
“I was shocked, because I’m a pulmonary critical care physician, I’m a lung doctor, and I didn’t know this whole literature,” Sjoding said.
He and his colleagues pulled data from their own hospital and found Black patients had nearly three times the rate of occult hypoxia as white patients. They published their results in December 2020.
After Aboelata read their paper, she scoured her memory for patients the devices might have betrayed.
She recalled a Black man she had tried to get approved for home oxygen therapy prior to the pandemic. Medicare only paid for the treatment if a patient’s oxygen saturation was below 90%, and “his pulse ox reading just looked too good compared to what I was seeing,” Aboelata said. She sent him to the hospital for an arterial blood gas draw. Sure enough, his oxygen was low enough to qualify.
Patients shared similar stories, “things like, ‘The ambulance didn’t take them to the hospital because they said that their reading was fine,’ or, ‘We were sent home from the emergency department because they said our reading was fine,’” Aboelata said.
In normal times, she said, providers are much more likely to err on the side of caution for a potentially hypoxic patient. But in the worst days of COVID, every bed, oxygen tank and minute was precious. Providers relied on what they believed was the pulse oximeter’s impartial measure to make extremely difficult decisions, unaware that the device did not evaluate all patients equally well.
Aboelata and colleagues from UCSF and Sutter Health’s Institute for Advancing Health Equity published their own study in the American Journal of Epidemiology showing that Black patients whose pulse oximeters overestimated blood oxygen levels waited an extra 4½ hours, on average, to start supplemental oxygen. They were also slightly less likely to be admitted to the hospital or receive oxygen therapy at all.
“There’s just no way to really know how far-reaching this impact is,” Aboelata said. “The likelihood [is] that people were left home to die, or sent home to die.”
In February 2021, the FDA issued a safety notice cautioning users that pulse oximeters can be thrown off by a number of variables, including skin pigment.
The following year, the FDA convened an advisory committee on the topic. The panel recommended the agency demand better consumer labels and more stringent testing from companies seeking approval for their devices.
Currently, the FDA recommends — but doesn’t require — that pulse oximeter makers ensure that in their clinical trials, either two participants or 15% of total participants are “darkly pigmented” people, a definition open to interpretation.
Clinical research coordinator René Vargas Zamora holds up an example of the Monk Skin Tone Scale at UC San Francisco’s Hypoxia Lab.
(Corinne Purtill/Los Angeles Times)
This month, the panel advised the FDA to require that new devices be tested on at least 24 people whose skin tones collectively span the Monk Skin Tone scale, a 10-color palette often used to train artificial intelligences to recognize people of different colors. The proposal would divide the scale into three parts, with each part represented by at least 25% of study participants.
To better understand the relationship between skin pigment and pulse ox accuracy, the FDA funded a study at Bickler’s UCSF lab. Results are expected this summer.
“Some companies have posted data showing good performance with darkly pigmented skin for their devices. But I know that those have been tested under ideal conditions,” said Bickler, whose lab investigates the effects of low oxygen on the human body and the devices that measure it. “When pulse oximeters are used in the real world, conditions are not ideal. People are dehydrated, they’re in shock, they’re moving. There’s all kinds of interference that can happen and that get in the way of good performance.”
For Bickler, it’s gratifying to see the government finally address a problem that has been known for decades but that device manufacturers seemed reluctant to address.
“There’s a lot of inertia and denial in the industry,” he said. “It was an inconvenient problem that could be ignored, up until COVID.”
Dr. Phil Bickler is a neuroanesthesiologist who directs the Hypoxia Research Laboratory at UC San Francisco.
(Corinne Purtill/Los Angeles Times)
The Times reached out to all the defendants being sued by Roots. Those that responded declined to comment on pending litigation.
Only one company has taken actions to address Roots’ concerns. Illinois-based NuvoMed pulled its pulse oximeters from the market in California and agreed to place warning labels on their remaining inventory after receiving Roots’ October letter, said Jonathan Weissglass, the clinic’s attorney.
“Ideally, we’d like the pulse oximeters to be fixed so that the problem doesn’t occur,” Weissglass said. “In the meantime, we feel there needs to be an adequate warning about the inaccuracies for people with darker skin. … We’ve all seen warning labels that say, ‘Pregnant women should consult with a doctor before using’ or something like that. It’s the same basic idea.”
On a recent afternoon at the clinic, medical assistant Evelyn Rivas clipped a pulse oximeter onto Ja-May Scott’s index finger as she checked his vital signs.
The devices are still an important part of Roots’ toolkit. But “we just view it with more suspicion, frankly, in a lot of our patients,” Aboelata said. “We would really like to be equipped with devices that we know can be accurate for all skin tones. And we feel like in 2024, this shouldn’t be too much to ask.”
Science
Southern California mountain lions recommended for threatened status
The California Department of Fish and Wildlife has recommended granting threatened species status to roughly 1,400 mountain lions roaming the Central Coast and Southern California, pointing to grave threats posed by freeways, rat poison and fierce wildfires.
The determination, released Wednesday, is not the final say but signals a possibility that several clans of the iconic cougars will be listed under the California Endangered Species Act.
It’s a move that supporters say would give the vulnerable animals a chance at recovery, but detractors have argued would make it harder to get rid of lions that pose a safety risk to people and livestock.
The recommendation was “overdue,” Charlton Bonham, director of the state wildlife department, said during a California Fish and Game Commission meeting.
It arrives about six years after the Center for Biological Diversity and Mountain Lion Foundation petitioned the commission to consider listing a half-dozen isolated lion populations that have suffered from being hit by cars, poisoned by rodenticides and trapped by development.
The following year, in 2020 the Commission found the request might be warranted, giving the lions temporary endangered species protections as “candidates” for listing. It also prompted the state wildlife department to put together a report to inform the commission’s final decision.
The next step is for state wildlife commissioners to to vote on the protections, possibly in February.
Brendan Cummings, conservation director for Center for Biological Diversity, hailed the moment as “a good day, not just for mountain lions, but for Californians.”
If the commissioners adopt the recommendation, as he believes they will, then the “final listing of the species removes any uncertainty about the state’s commitment to conserving and recovering these ecologically important, charismatic and well-loved species that are so much a part of California.”
The report recommends listing lions “in an area largely coinciding” with what the petitioners requested, which includes the Santa Ana, San Gabriel, San Bernardino, Santa Monica, Santa Cruz and Tehachapi mountains.
It trims off portions along the northern and eastern borders of what was proposed, including agricultural lands in the Bay Area and a southeastern portion of desert — areas where state experts had no records of lions, according to Cummings.
Officials in the report note that most of the lion groups proposed for listing are contending with a lack of gene flow because urban barriers keep them from reaching one another.
In Southern California, lions have shown deformities from inbreeding, including kinked tails and malformed sperm. There’s an almost 1 in 4 chance, according to research, that mountain lions could become extinct in the Santa Monica and Santa Ana mountains within 50 years.
The late P-22 — a celebrity mountain lion that inhabited Griffith Park – personified the tribulations facing his kind. Rat poison and car collisions battered him from the inside out. He was captured and euthanized in late 2022, deemed too sick to return to the wild because of injuries and infection.
For some species, protections come in the form of stopping chainsaws or bulldozers. But imperiled lions, Cummings said, need their habitats stitched together in the form of wildlife crossings — such as the gargantuan one being built over the 101 Freeway in Agoura Hills. He added that developments that could restrict their movement should get more scrutiny under the proposed protections.
Critics of the effort to list lion populations have said that it will stymie residential and commercial projects.
California is home to roughly 4,170 mountain lions, according to the recent report, but not all are equal in their struggle.
Many lion populations, particularly in northwest coastal forests, are hearty and healthy.
Protections are not being sought for those cats. Some, in fact, would like to see their numbers reduced amid some high-profile conflicts.
Bonham, the director of the state Department of Fish and Wildlife, spoke to concerns about public safety at the recent meeting, alluding to the tragic death of young man who was mauled by a cougar last year in Northern California.
“These are really delicate issues and the conversation I know in the coming years is going to have to grapple with all that,” said Bonham, who will be stepping down this month after nearly 15 years in his role.
California’s lions already enjoy certain protections. In 1990, voters approved a measure that designated them a “specially protected species” and banned hunting them for sport.
Science
California’s last nuclear plant clears major hurdle to power on
California environmental regulators on Thursday struck a landmark deal with Pacific Gas & Electric to extend the life of the state’s last remaining nuclear power plant in exchange for thousands of acres of new land conservation in San Luis Obispo County.
PG&E’s agreement with the California Coastal Commission is a key hurdle for the Diablo Canyon nuclear plant to remain online until at least 2030. The plant was slated to close this year, largely due to concerns over seismic safety, but state officials pushed to delay it — saying the plant remains essential for the reliable operation of California’s electrical grid. Diablo Canyon provides nearly 9% of the electricity generated in the state, making it the state’s single largest source.
The Coastal Commission voted 9-3 to approve the plan, settling the fate of some 12,000 acres that surround the power plant as a means of compensation for environmental harm caused by its continued operation.
Nuclear power does not emit greenhouse gases. But Diablo Canyon uses an estimated 2.5 billion gallons of ocean water each day to absorb heat in a process known as “once-through cooling,” which kills an estimated two billion or more marine organisms each year.
Some stakeholders in the region celebrated the conservation deal, while others were disappointed by the decision to trade land for marine impacts — including a Native tribe that had hoped the land would be returned to them. Diablo Canyon sits along one of the most rugged and ecologically rich stretches of the California coast.
Under the agreement, PG&E will immediately transfer a 4,500-acre parcel on the north side of the property known as the “North Ranch” into a conservation easement and pursue transfer of its ownership to a public agency such as the California Department of Parks and Recreation, a nonprofit land conservation organization or tribe. A purchase by State Parks would result in a more than 50% expansion of the existing Montaña de Oro State Park.
PG&E will also offer a 2,200-acre parcel on the southern part of the property known as “Wild Cherry Canyon” for purchase by a government agency, nonprofit land conservation organization or tribe. In addition, the utility will provide $10 million to plan and manage roughly 25 miles of new public access trails across the entire property.
“It’s going to be something that changes lives on the Central Coast in perpetuity,” Commissioner Christopher Lopez said at the meeting. “This matters to generations that have yet to exist on this planet … this is going to be a place that so many people mark in their minds as a place that transforms their lives as they visit and recreate and love it in a way most of us can’t even imagine today.”
Critically, the plan could see Diablo Canyon remain operational much longer than the five years dictated by Thursday’s agreement. While the state Legislature only authorized the plant to operate through 2030, PG&E’s federal license renewal would cover 20 years of operations, potentially keeping it online until 2045.
Should that happen, the utility would need to make additional land concessions, including expanding an existing conservation area on the southern part of the property known as the “South Ranch” to 2,500 acres. The plan also includes rights of first refusal for a government agency or a land conservation group to purchase the entirety of the South Ranch, 5,000 acres, along with Wild Cherry Canyon — after 2030.
Pelicans along the concrete breakwater at Pacific Gas and Electric’s Diablo Canyon Power Plant
(Brian van der Brug/Los Angeles Times)
Many stakeholders were frustrated by the carve-out for the South Ranch, but still saw the agreement as an overall victory for Californians.
“It is a once in a lifetime opportunity,” Sen. John Laird (D-Santa Cruz) said in a phone call ahead of Thursday’s vote. “I have not been out there where it has not been breathtakingly beautiful, where it is not this incredible, unique location, where you’re not seeing, for much of it, a human structure anywhere. It is just one of those last unique opportunities to protect very special land near the California coast.”
Others, however, described the deal as disappointing and inadequate.
That includes many of the region’s Native Americans who said they felt sidelined by the agreement. The deal does not preclude tribal groups from purchasing the land in the future, but it doesn’t guarantee that or give them priority.
The yak titʸu titʸu yak tiłhini Northern Chumash Tribe of San Luis Obispo County and Region, which met with the Coastal Commission several times in the lead-up to Thursday’s vote, had hoped to see the land returned to them.
Scott Lanthrop is a member of the tribe’s board and has worked on the issue for several years.
“The sad part is our group is not being recognized as the ultimate conservationist,” he told The Times. “Any normal person, if you ask the question, would you rather have a tribal group that is totally connected to earth and wind and water, or would you like to have some state agency or gigantic NGO manage this land, I think the answer would be, ‘Hey, you probably should give it back to the tribe.’”
Tribe chair Mona Tucker said she fears that free public access to the land could end up harming it instead of helping it, as the Coastal Commission intends.
“In my mind, I’m not understanding how taking the land … is mitigation for marine life,” Tucker said. “It doesn’t change anything as far as impacts to the water. It changes a lot as far as impacts to the land.”
Montaña de Oro State Park.
(Christopher Reynolds / Los Angeles Times)
The deal has been complicated by jurisdictional questions, including who can determine what happens to the land. While PG&E owns the North Ranch parcel that could be transferred to State Parks, the South Ranch and Wild Cherry Canyon are owned by its subsidiary, Eureka Energy Company.
What’s more, the California Public Utilities Commission, which regulates utilities such as PG&E, has a Tribal Land Transfer Policy that calls for investor-owned power companies to transfer land they no longer want to Native American tribes.
In the case of Diablo Canyon, the Coastal Commission became the decision maker because it has the job of compensating for environmental harm from the facility’s continued operation. Since the commission determined Diablo’s use of ocean water can’t be avoided, it looked at land conservation as the next best method.
This “out-of-kind” trade-off is a rare, but not unheard of way of making up for the loss of marine life. It’s an approach that is “feasible and more likely to succeed” than several other methods considered, according to the commission’s staff report.
“This plan supports the continued operation of a major source of reliable electricity for California, and is in alignment with our state’s clean energy goals and focus on coastal protection,” Paula Gerfen, Diablo Canyon’s senior vice president and chief nuclear officer, said in a statement.
But Assemblymember Dawn Addis (D-Morro Bay) said the deal was “not the best we can do” — particularly because the fate of the South Ranch now depends on the plant staying in operation beyond 2030.
“I believe the time really is now for the immediate full conservation of the 12,000 [acres], and to bring accountability and trust back for the voters of San Luis Obispo County,” Addis said during the meeting.
There are also concerns about the safety of continuing to operate a nuclear plant in California, with its radioactive waste stored in concrete casks on the site. Diablo Canyon is subject to ground shaking and earthquake hazards, including from the nearby Hosgri Fault and the Shorline Fault, about 2.5 miles and 1 mile from the facility, respectively.
PG&E says the plant has been built to withstand hazards. It completed a seismic hazard assessment in 2024, and determined Diablo Canyon is safe to continue operation through 2030. The Coastal Commission, however, found if the plant operates longer, it would warrant further seismic study.
A key development for continuing Diablo Canyon’s operation came in 2022 with Senate Bill 846, which delayed closure by up to five additional years. At the time, California was plagued by rolling blackouts driven extreme heat waves, and state officials were growing wary about taking such a major source of power offline.
But California has made great gains in the last several years — including massive investments in solar energy and battery storage — and some questioned whether the facility is still needed at all.
Others said conserving thousands of acres of land still won’t make up for the harms to the ocean.
“It is unmitigatable,” said David Weisman, executive director of the nonprofit Alliance for Nuclear Responsibility. He noted that the Coastal Commission’s staff report says it would take about 99 years to balance the loss of marine life with the benefits provided by 4,500 acres of land conservation. Twenty more years of operation would take about 305 years to strike that same balance.
But some pointed out that neither the commission nor fisheries data find Diablo’s operations cause declines in marine life. Ocean harm may be overestimated, said Seaver Wang, an oceanographer and the climate and energy director at the Breakthrough Institute, a Berkeley-based research center.
In California’s push to transition to clean energy, every option comes with downsides, Wang said. In the case of nuclear power — which produces no greenhouse gas emissions — it’s all part of the trade off, he said.
“There’s no such thing as impacts-free energy,” he said.
The Coastal Commission’s vote is one of the last remaining obstacles to keeping the plant online. PG&E will also need a final nod from the Regional Water Quality Control Board, which decides on a pollution discharge permit in February.
The federal Nuclear Regulatory Commission will also have to sign off on Diablo’s extension.
Science
In search for autism’s causes, look at genes, not vaccines, researchers say
Earlier this year, Health and Human Services Secretary Robert F. Kennedy Jr. pledged that the search for autism’s cause — a question that has kept researchers busy for the better part of six decades — would be over in just five months.
“By September, we will know what has caused the autism epidemic, and we’ll be able to eliminate those exposures,” Kennedy told President Trump during a Cabinet meeting in April.
That ambitious deadline has come and gone. But researchers and advocates say that Kennedy’s continued fixation on autism’s origins — and his frequent, inaccurate claims that childhood vaccines are somehow involved — is built on fundamental misunderstandings of the complex neurodevelopmental condition.
Even after more than half a century of research, no one yet knows exactly why some people have autistic traits and others do not, or why autism spectrum disorder looks so different across the people who have it. But a few key themes have emerged.
Researchers believe that autism is most likely the result of a complex set of interactions between genes and the environment that unfold while a child is in the womb. It can be passed down through families, or originate with a spontaneous gene mutation.
Environmental influences may indeed play a role in some autism cases, but their effect is heavily influenced by a person’s genes. There is no evidence for a single trigger that causes autism, and certainly not one a child encounters after birth: not a vaccine, a parenting style or a post-circumcision Tylenol.
“The real reason why it’s complicated, the more fundamental one, is that there’s not a single cause,” said Irva Hertz-Picciotto, a professor of public health science and director of the Environmental Health Sciences Center at UC Davis. “It’s not a single cause from one person to the next, and not a single cause within any one person.”
Kennedy, an attorney who has no medical or scientific training, has called research into autism’s genetics a “dead end.” Autism researchers counter that it’s the only logical place to start.
“If we know nothing else, we know that autism is primarily genetic,” said Joe Buxbaum, a molecular neuroscientist who directs the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai. “And you don’t have to actually have the exact genes [identified] to know that something is genetic.”
Some neurodevelopment disorders arise from a difference in a single gene or chromosome. People with Down syndrome have an extra copy of chromosome 21, for example, and Fragile X syndrome results when the FMR1 gene isn’t expressed.
Autism in most cases is polygenetic, which means that multiple genes are involved, with each contributing a little bit to the overall picture.
Researchers have found hundreds of genes that could be associated with autism; there may be many more among the roughly 20,000 in the human genome.
In the meantime, the strongest evidence that autism is genetic comes from studies of twins and other sibling groups, Buxbaum and other researchers said.
The rate of autism in the U.S. general population is about 2.8%, according to a study published last year in the journal Pediatrics. Among children with at least one autistic sibling, it’s 20.2% — about seven times higher than the general population, the study found.
Twin studies reinforce the point. Both identical and fraternal twins develop in the same womb and are usually raised in similar circumstances in the same household. The difference is genetic: identical twins share 100% of their genetic information, while fraternal twins share about 50% (the same as nontwin siblings).
If one fraternal twin is autistic, the chance that the other twin is also autistic is about 20%, or about the same as it would be for a nontwin sibling.
But if one in a pair of identical twins is autistic, the chance that the other twin is also autistic is significantly higher. Studies have pegged the identical twin concurrence rate anywhere from 60% to 90%, though the intensity of the twins’ autistic traits may differ significantly.
Molecular genetic studies, which look at the genetic information shared between siblings and other blood relatives, have found similar rates of genetic influence on autism, said Dr. John Constantino, a professor of pediatrics, psychiatry and behavioral sciences at the Emory University School of Medicine and chief of behavioral and mental health at Children’s Healthcare of Atlanta.
Together, he said, “those studies have indicated that a vast share of the causation of autism can be traced to the effects of genetic influences. That is a fact.”
Buxbaum compares the heritability of autism to the heritability of height, another polygenic trait.
“There’s not one gene that’s making you taller or shorter,” Buxbaum said. Hundreds of genes play a role in where you land on the height distribution curve. A lot of those genes run in families — it’s not unusual for very tall people, for example, to have very tall relatives.
But parents pass on a random mix of their genes to their children, and height distribution across a group of same-sex siblings can vary widely. Genetic mutations can change the picture. Marfan syndrome, a condition caused by mutations in the FBN1 gene, typically makes people grow taller than average. Hundreds of genetic mutations are associated with dwarfism, which causes shorter stature.
Then once a child is born, external factors such as malnutrition or disease can affect the likelihood that they reach their full height potential.
So genes are important. But the environment — which in developmental science means pretty much anything that isn’t genetics, including parental age, nutrition, air pollution and viruses — can play a major role in how those genes are expressed.
“Genetics does not operate in a vacuum, and at the same time, the impact of the environment on people is going to depend on a person’s individual genetics,” said Brian K. Lee, a professor of epidemiology and biostatistics at Drexel University who studies the genetics of developmental disorders.
Unlike the childhood circumstances that can affect height, the environmental exposures associated with autism for the most part take place in utero.
Researchers have identified multiple factors linked to increased risks of the disorder, including older parental age, infant prematurity and parental exposure to air pollution and industrial solvents.
Investigations into some of these linkages were among the more than 50 autism-related studies whose funding Kennedy has cut since taking office, a ProPublica investigation found. In contrast, no credible study has found links between vaccines and autism — and there have been many.
One move from the Department of Health and Human Services has been met with cautious optimism: even as Kennedy slashed funding to other research projects, the department in September announced a $50-million initiative to explore the interactions of genes and environmental factors in autism, which has been divided among 13 different research groups at U.S. universities, including UCLA and UC San Diego.
The department’s selection of well-established, legitimate research teams was met with relief by many autism scientists.
But many say they fear that such decisions will be an anomaly under Kennedy, who has repeatedly rejected facts that don’t conform to his preferred hypotheses, elevated shoddy science and muddied public health messaging on autism with inaccurate information.
Disagreements are an essential part of scientific inquiry. But the productive ones take place in a universe of shared facts and build on established evidence.
And when determining how to spend limited resources, researchers say, making evidence-based decisions is vital.
“There are two aspects of these decisions: Is it a reasonable expenditure based on what we already know? And if you spend money here, will you be taking money away from HHS that people are in desperate need of?” Constantino said. “If you’re going to be spending money, you want to do that in a way that is not discarding what we already know.”
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