Genetic Test Scores Predicting Intelligence Are Not the New Eugenics
"A world where people are slotted according to their inborn ability – well, that is Gattaca. That is eugenics."
This was the assessment of Dr. Catherine Bliss, a sociologist who wrote a new book on social science genetics, when asked by MIT Technology Review about polygenic scores that can predict a person's intelligence or performance in school. Like a credit score, a polygenic score is statistical tool that combines a lot of information about a person's genome into a single number. Fears about using polygenic scores for genetic discrimination are understandable, given this country's ugly history of using the science of heredity to justify atrocities like forcible sterilization. But polygenic scores are not the new eugenics. And, rushing to discuss polygenic scores in dystopian terms only contributes to widespread public misunderstanding about genetics.
Can we start genotyping toddlers to identify the budding geniuses among them? The short answer is no.
Let's begin with some background on how polygenic scores are developed. In a genome wide-association study, researchers conduct millions of statistical tests to identify small differences in people's DNA sequence that are correlated with differences in a target outcome (beyond what can attributed to chance or ancestry differences). Successful studies of this sort require enormous sample sizes, but companies like 23andMe are now contributing genetic data from their consumers to research studies, and national biorepositories like U.K. Biobank have put genetic information from hundreds of thousands of people online. When applied to studying blood lipids or myopia, this kind of study strikes people as a straightforward and uncontroversial scientific tool. But it can also be conducted for cognitive and behavioral outcomes, like how many years of school a person has completed. When researchers have finished a genome-wide association study, they are left with a dataset with millions of rows (one for each genetic variant analyzed) and one column with the correlations between each variant and the outcome being studied.
The trick to polygenic scoring is to use these results and apply them to people who weren't participants in the original study. Measure the genes of a new person, weight each one of her millions of genetic variants by its correlation with educational attainment from a genome-wide association study, and then simply add everything up into a single number. Voila! -- you've created a polygenic score for educational attainment. On its face, the idea of "scoring" a person's genotype does immediately suggest Gattaca-type applications. Can we now start screening embryos for their "inborn ability," as Bliss called it? Can we start genotyping toddlers to identify the budding geniuses among them?
The short answer is no. Here are four reasons why dystopian projections about polygenic scores are out of touch with the current science:
The phrase "DNA tests for IQ" makes for an attention-grabbing headline, but it's scientifically meaningless.
First, a polygenic score currently predicts the life outcomes of an individual child with a great deal of uncertainty. The amount of uncertainty around polygenic predictions will decrease in the future, as genetic discovery samples get bigger and genetic studies include more of the variation in the genome, including rare variants that are particular to a few families. But for now, knowing a child's polygenic score predicts his ultimate educational attainment about as well as knowing his family's income, and slightly worse than knowing how far his mother went in school. These pieces of information are also readily available about children before they are born, but no one is writing breathless think-pieces about the dystopian outcomes that will result from knowing whether a pregnant woman graduated from college.
Second, using polygenic scoring for embryo selection requires parents to create embryos using reproductive technology, rather than conceiving them by having sex. The prediction that many women will endure medically-unnecessary IVF, in order to select the embryo with the highest polygenic score, glosses over the invasiveness, indignity, pain, and heartbreak that these hormonal and surgical procedures can entail.
Third, and counterintuitively, a polygenic score might be using DNA to measure aspects of the child's environment. Remember, a child inherits her DNA from her parents, who typically also shape the environment she grows up in. And, children's environments respond to their unique personalities and temperaments. One Icelandic study found that parents' polygenic scores predicted their children's educational attainment, even if the score was constructed using only the half of the parental genome that the child didn't inherit. For example, imagine mom has genetic variant X that makes her more likely to smoke during her pregnancy. Prenatal exposure to nicotine, in turn, affects the child's neurodevelopment, leading to behavior problems in school. The school responds to his behavioral problems with suspension, causing him to miss out on instructional content. A genome-wide association study will collapse this long and winding causal path into a simple correlation -- "genetic variant X is correlated with academic achievement." But, a child's polygenic score, which includes variant X, will partly reflect his likelihood of being exposed to adverse prenatal and school environments.
Finally, the phrase "DNA tests for IQ" makes for an attention-grabbing headline, but it's scientifically meaningless. As I've written previously, it makes sense to talk about a bacterial test for strep throat, because strep throat is a medical condition defined as having streptococcal bacteria growing in the back of your throat. If your strep test is positive, you have strep throat, no matter how serious your symptoms are. But a polygenic score is not a test "for" IQ, because intelligence is not defined at the level of someone's DNA. It doesn't matter how high your polygenic score is, if you can't reason abstractly or learn from experience. Equating your intelligence, a cognitive capacity that is tested behaviorally, with your polygenic score, a number that is a weighted sum of genetic variants discovered to be statistically associated with educational attainment in a hypothesis-free data mining exercise, is misleading about what intelligence is and is not.
The task for many scientists like me, who are interested in understanding why some children do better in school than other children, is to disentangle correlations from causation.
So, if we're not going to build a Gattaca-style genetic hierarchy, what are polygenic scores good for? They are not useless. In fact, they give scientists a valuable new tool for studying how to improve children's lives. The task for many scientists like me, who are interested in understanding why some children do better in school than other children, is to disentangle correlations from causation. The best way to do that is to run an experiment where children are randomized to environments, but often a true experiment is unethical or impractical. You can't randomize children to be born to a teenage mother or to go to school with inexperienced teachers. By statistically controlling for some of the relevant genetic differences between people using a polygenic score, scientists are better able to identify potential environmental causes of differences in children's life outcomes. As we have seen with other methods from genetics, like twin studies, understanding genes illuminates the environment.
Research that examines genetics in relation to social inequality, such as differences in higher education outcomes, will obviously remind people of the horrors of the eugenics movement. Wariness regarding how genetic science will be applied is certainly warranted. But, polygenic scores are not pure measures of "inborn ability," and genome-wide association studies of human intelligence and educational attainment are not inevitably ushering in a new eugenics age.
The Friday Five covers five stories in research that you may have missed this week. There are plenty of controversies and troubling ethical issues in science – and we get into many of them in our online magazine – but this news roundup focuses on new scientific theories and progress to give you a therapeutic dose of inspiration headed into the weekend.
This episode includes an interview with Dr. Helen Keyes, Head of the School of Psychology and Sports Science at Anglia Ruskin University.
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As a graduate student in observational astronomy at the University of Arizona during the 1970s, Diane Turnshek remembers the starry skies above the Kitt Peak National Observatory on the Tucson outskirts. Back then, she could observe faint objects like nebulae, galaxies, and star clusters on most nights.
When Turnshek moved to Pittsburgh in 1981, she found it almost impossible to see a clear night sky because the city’s countless lights created a bright dome of light called skyglow. Over the next two decades, Turnshek almost forgot what a dark sky looked like. She witnessed pristine dark skies in their full glory again during a visit to the Mars Desert Research Station in Utah in early 2000s.
“I was shocked at how beautiful the dark skies were in the West. That is when I realized that most parts of the world have lost access to starry skies because of light pollution,” says Turnshek, an astronomer and lecturer at Carnegie Mellon University. In 2015, she became a dark sky advocate.
Light pollution is defined as the excessive or wasteful use of artificial light.
Light-emitting diodes (LEDs) -- which became commercially available in 2002 and rapidly gained popularity in offices, schools, and hospitals when their price dropped six years later — inadvertently fueled the surge in light pollution. As traditional light sources like halogen, fluorescent, mercury, and sodium vapor lamps have been phased out or banned, LEDs became the main source of lighting globally in 2019. Switching to LEDs has been lauded as a win-win decision. Not only are they cheap but they also consume a fraction of electricity compared to their traditional counterparts.
But as cheap LED installations became omnipresent, they increased light pollution. “People have been installing LEDs thinking they are making a positive change for the environment. But LEDs are a lot brighter than traditional light sources,” explains Ashley Wilson, director of conservation at the International Dark-Sky Association (IDA). “Despite being energy-efficient, they are increasing our energy consumption. No one expected this kind of backlash from switching to LEDs.”
Light pollution impacts the circadian rhythms of all living beings — the natural internal process that regulates the sleep–wake cycle.
Currently, more than 80 percent of the world lives under light-polluted skies. In the U.S. and Europe, that figure is above 99 percent.
According to the IDA, $3 billion worth of electricity is lost to skyglow every year in the U.S. alone — thanks to unnecessary and poorly designed outdoor lighting installations. Worse, the resulting light pollution has insidious impacts on humans and wildlife — in more ways than one.
Disrupting the brain’s clock
Light pollution impacts the circadian rhythms of all living beings—the natural internal process that regulates the sleep–wake cycle. Humans and other mammals have neurons in their retina called intrinsically photosensitive retinal ganglion cells (ipRGCs). These cells collect information about the visual world and directly influence the brain’s biological clock in the hypothalamus.
The ipRGCs are particularly sensitive to the blue light that LEDs emit at high levels, resulting in suppression of melatonin, a hormone that helps us sleep. A 2020 JAMA Psychiatry study detailed how teenagers who lived in areas with bright outdoor lighting at night went to bed late and slept less, which made them more prone to mood disorders and anxiety.
“Many people are skeptical when they are told something as ubiquitous as lights could have such profound impacts on public health,” says Gena Glickman, director of the Chronobiology, Light and Sleep Lab at Uniformed Services University. “But when the clock in our brains gets exposed to blue light at nighttime, it could result in a lot of negative consequences like impaired cognitive function and neuro-endocrine disturbances.”
In the last 12 years, several studies indicated that light pollution exposure is associated with obesity and diabetes in humans and animals alike. While researchers are still trying to understand the exact underlying mechanisms, they found that even one night of too much light exposure could negatively affect the metabolic system. Studies have linked light pollution to a higher risk of hormone-sensitive cancers like breast and prostate cancer. A 2017 study found that female nurses exposed to light pollution have a 14 percent higher risk of breast cancer. The World Health Organization (WHO) identified long-term night shiftwork as a probable cause of cancer.
“We ignore our biological need for a natural light and dark cycle. Our patterns of light exposure have consequently become different from what nature intended,” explains Glickman.
Circadian lighting systems, designed to match individuals’ circadian rhythms, might help. The Lighting Research Center at Rensselaer Polytechnic Institute developed LED light systems that mimic natural lighting fluxes, required for better sleep. In the morning the lights shine brightly as does the sun. After sunset, the system dims, once again mimicking nature, which boosts melatonin production. It can even be programmed to increase blue light indoors when clouds block sunlight’s path through windows. Studies have shown that such systems might help reduce sleep fragmentation and cognitive decline. People who spend most of their day indoors can benefit from such circadian mimics.
When Diane Turnshek moved to Pittsburgh, she found it almost impossible to see a clear night sky because the city’s countless lights created a bright dome of light called skyglow.
Diane Turnshek
Leading to better LEDs
Light pollution disrupts the travels of millions of migratory birds that begin their long-distance journeys after sunset but end up entrapped within the sky glow of cities, becoming disoriented. A 2017 study in Nature found that nocturnal pollinators like bees, moths, fireflies and bats visit 62 percent fewer plants in areas with artificial lights compared to dark areas.
“On an evolutionary timescale, LEDs have triggered huge changes in the Earth’s environment within a relative blink of an eye,” says Wilson, the director of IDA. “Plants and animals cannot adapt so fast. They have to fight to survive with their existing traits and abilities.”
But not all types of LEDs are inherently bad -- it all comes down to how much blue light they emit. During the day, the sun emits blue light waves. By sunset, red and orange light waves become predominant, stimulating melatonin production. LED’s artificial blue light, when shining at night, disrupts that. For some unknown reason, there are more bluer color LEDs made and sold.
“Communities install blue color temperature LEDs rather than redder color temperature LEDs because more of the blue ones are made; they are the status quo on the market,” says Michelle Wooten, an assistant professor of astronomy at the University of Alabama at Birmingham.
Most artificial outdoor light produced is wasted as human eyes do not use them to navigate their surroundings.
While astronomers and the IDA have been educating LED manufacturers about these nuances, policymakers struggle to keep up with the growing industry. But there are things they can do—such as requiring LEDs to include dimmers. “Most LED installations can be dimmed down. We need to make the dimmable drivers a mandatory requirement while selling LED lighting,” says Nancy Clanton, a lighting engineer, designer, and dark sky advocate.
Some lighting companies have been developing more sophisticated LED lights that help support melatonin production. Lighting engineers at Crossroads LLC and Nichia Corporation have been working on creating LEDs that produce more light in the red range. “We live in a wonderful age of technology that has given us these new LED designs which cut out blue wavelengths entirely for dark-sky friendly lighting purposes,” says Wooten.
Dimming the lights to see better
The IDA and advocates like Turnshek propose that communities turn off unnecessary outdoor lights. According to the Department of Energy, 99 percent of artificial outdoor light produced is wasted as human eyes do not use them to navigate their surroundings.
In recent years, major cities like Chicago, Austin, and Philadelphia adopted the “Lights Out” initiative encouraging communities to turn off unnecessary lights during birds’ peak migration seasons for 10 days at a time. “This poses an important question: if people can live without some lights for 10 days, why can’t they keep them turned off all year round,” says Wilson.
Most communities globally believe that keeping bright outdoor lights on all night increases security and prevents crime. But in her studies of street lights’ brightness levels in different parts of the US — from Alaska to California to Washington — Clanton found that people felt safe and could see clearly even at low or dim lighting levels.
Clanton and colleagues installed LEDs in a Seattle suburb that provided only 25 percent of lighting levels compared to what they used previously. The residents reported far better visibility because the new LEDs did not produce glare. “Visual contrast matters a lot more than lighting levels,” Clanton says. Additionally, motion sensor LEDs for outdoor lighting can go a long way in reducing light pollution.
Flipping a switch to preserve starry nights
Clanton has helped draft laws to reduce light pollution in at least 17 U.S. states. However, poor awareness of light pollution led to inadequate enforcement of these laws. Also, getting thousands of counties and municipalities within any state to comply with these regulations is a Herculean task, Turnshek points out.
Fountain Hills, a small town near Phoenix, Arizona, has rid itself of light pollution since 2018, thanks to the community's efforts to preserve dark skies.
Until LEDs became mainstream, Fountain Hills enjoyed starry skies despite its proximity to Phoenix. A mountain surrounding the town blocks most of the skyglow from the city.
“Light pollution became an issue in Fountain Hills over the years because we were not taking new LED technologies into account. Our town’s lighting code was antiquated and out-of-date,” says Vicky Derksen, a resident who is also a part of the Fountain Hills Dark Sky Association founded in 2017. “To preserve dark skies, we had to work with the entire town to update the local lighting code and convince residents to follow responsible outdoor lighting practices.”
Derksen and her team first tackled light pollution in the town center which has a faux fountain in the middle of a lake. “The iconic centerpiece, from which Fountain Hills got its name, had the wrong types of lighting fixtures, which created a lot of glare,” adds Derksen. They then replaced several other municipal lighting fixtures with dark-sky-friendly LEDs.
The results were awe-inspiring. After a long time, residents could see the Milky Way with crystal clear clarity. Star-gazing activities made a strong comeback across the town. But keeping light pollution low requires constant work.
Derksen and other residents regularly measure artificial light levels in
Fountain Hills. Currently, the only major source of light pollution is from extremely bright, illuminated signs which local businesses had installed in different parts of the town. While Derksen says it is an uphill battle to educate local businesses about light pollution, Fountain Hills residents are determined to protect their dark skies.
“When a river gets polluted, it can take several years before clean-up efforts see any tangible results,” says Derksen. “But the effects are immediate when you work toward reducing light pollution. All it requires is flipping a switch.”