Social and Behavioral Genomics: What Does It Mean for Pediatrics?

The completion of the Human Genome Project in 2003 fueled significant advances in our understanding of the contributions of genetics to human health and well-being. Rapid technological and scientific progress in this postgenomic era has given rise to the emerging field of social and behavioral genomics. Social and behavioral genomics is the study of whether and how molecular genetic differences between individuals relate to differences in behavioral and social outcomes such as cognitive ability, income, and educational attainment (ie, the number of years of schooling a person has completed in their lifetime).¹ Researchers in the field increasingly use polygenic scores (PGS), also referred to as polygenic risk scores, genome-wide polygenic scores, or polygenic indices, as a tool for genomic prediction. PGS provide a sum of the miniscule effects of thousands of genetic variants distributed across the genome to predict a trait or outcome. Social and behavioral genomics—especially its risks, potential benefits, and applications—are the subject of ongoing academic debate and controversy.^2,3

Some researchers assert that social and behavioral PGS have potentially beneficial health and policy implications and could improve precision in the delivery of clinical services (eg, in preventive health and prenatal screenings) and social services (eg, in the provision of education services).^4–6 PGS for educational attainment, for instance, have already been used to enhance risk prediction of health conditions such as essential hypertension, ischemic heart disease, and type 2 diabetes.⁴ Researchers are also starting to use social and behavioral PGS as a control variable in social science studies to avoid potential confounding and increase rigor.⁷ Some investigators have even argued that PGS could heighten our understandings of which social policies or interventions might produce or reinforce social inequalities.¹

Conversely, other scholars worry that social and behavioral genomic research will encourage genetic discrimination, codify eugenic policies, diminish support for redistributive social policies, and reinforce longstanding, genetic essentialist narratives about the origins of social inequality.^8–11 Central to these concerns is the fact that theories about genetic causes of differences in human behavior have contributed to significant social harm; they have been used to justify slavery, restrict immigration, involuntarily sterilize the feebleminded, and support school segregation.^12–15 Most recently, the enduring and essentialist view that genes are immutable and divide people into discrete groups was espoused by the shooter who murdered 10 African Americans in a Buffalo, New York. supermarket in 2022; a 2018 genome-wide association study (GWAS) on educational attainment appeared in the shooter’s screed as evidence of the superior intelligence of White over Black individuals.^16,17

Although social and behavioral genomics is garnering the attention of the media, parents, K-12 educators, students, and members of the public, the pediatric clinical community has yet to consider what social and behavioral genomics might mean for the populations it serves.^18–24 Furthermore, the relevance of PGS for children has thus far received limited attention.²⁵ Finally, existing literature on the ethical and social implications of social and behavioral genomics has largely focused on what this research might mean for adult consumers, social institutions (eg, education), and, to a lesser extent, the broader society.

In this commentary, we examine the specific implications of social and behavioral genomics for pediatric populations (ie, those under the age of 18). We begin with a brief overview of current and future applications of social and behavioral data to these populations. We then discuss a variety of social and ethical issues arising from these applications. We argue that, if the goal of pediatric medicine is to promote the health and well-being of children and adolescents, then clinicians, researchers, caregivers, and youth themselves must be educated about, and consider, what the influx of social and behavioral genomic data mean for pediatric populations. Moreover, appropriately minimizing the risks and enhancing the potential benefits of social and behavioral genomics requires an ongoing dialogue among and between these stakeholder groups who both affect and are affected by the conduct and translation of social and behavioral genomics.

Social and Behavioral Genomics

Although researchers previously relied on twin studies to examine genetic differences between related individuals, GWAS now enable large-scale investigations of genetic differences between unrelated individuals.²⁶ GWAS aim to identify DNA variants correlated with common, complex (ie, affected by multiple genes) traits (eg, body mass index, schizophrenia); they are a departure from a prior focus on rare, single-gene conditions (eg, Huntingdon disease, cystic fibrosis). Using GWAS results, researchers can generate polygenic scores (PGS). PGS function as moderate genomic predictors—they are calculated based on genomic data and allow accurate prediction of populations (as opposed to individuals).

GWAS and PGS were first deployed to study medical conditions such as cardiovascular disease.²⁷ For instance, researchers have shown that people with high-percentile PGS for type 2 diabetes are, on average, more likely to develop the condition than individuals with low-percentile PGS.^28,29 However, these methods are now of growing interest to social and behavioral genomics researchers. In the last decade, researchers have used GWAS to generate PGS for an array of behaviors and social outcomes, including aggressive behaviors, income, mathematics ability, dyslexia, executive functioning, sexual and reproductive behavior, and educational attainment; the latter is frequently treated as a proxy for intelligence or cognitive ability in psychological research.^4,30–35

PGS currently suffers from a host of predictive and explanatory limitations. Notably, PGS for social and behavioral traits and outcomes are too limited in predictive capacity to accurately predict individual outcomes. They are also subject to a problem of limited generalizability—often referred to as the problem of portability.^3,5,36–38 That is, because the vast majority of GWAS are restricted to individuals who have shared European genetic ancestry, PGS are most predictive in individuals of estimated genetic similarity to those included in GWAS.^39–41 The broader implication is that PGS are most predictive for members of historically and currently privileged population and significantly less so for other populations—raising equity concerns.⁴² Finally, because PGS for social and behavioral traits and outcomes are biologically vacuous, they are very limited in explanatory power—an issue closely related to the missing heritability problem.^43,44 That is, although PGS predict outcomes from biological data, they are not accompanied by any underlying causal-mechanical or meaningful etiological story for how or why a miniscule variation at the level of the genomic is statistically associated with behavioral variation.

Despite these limitations, which raise questions about the clinical utility and validity of PGS applications, members of direct-to-consumer (DTC) genetic testing industry are marketing social and behavioral genomic data to consumers— and consumers are interested.^45–48 DTC genetic testing is available for traits and outcomes, such as educational attainment, reading ability, intelligence, and math ability.⁴⁹ Moreover, in vitro fertilization companies are beginning to integrate PGS data into embryo screening and selection processes to aid prospective parents in their reproductive decision-making.^50,51

In light of the burgeoning, international DTC market, parents are becoming increasingly interested in the potential applications of PGS. For instance, a nationally representative survey of parents in the US found that many are interested in the use of genetic data to screen children for learning disabilities.²¹ Additionally, in China, DTC companies are successfully marketing genetic talent testing to parents—publicizing their services as a way for parents to identify the educational niches that may give their offspring a competitive edge.⁵² Well-resourced parents interested in affording their children every opportunity to succeed may thus increasingly turn to the DTC market to receive additional information about their children that they could use to make child-rearing and education decisions.

Given the growing availability of social and behavioral genomic data, some researchers argue that social and behavioral PGS (eg, PGS for dyslexia, reading ability, and math ability) could be used to enhance personalization in classrooms or guide resource allocation.^53,54 For example, in 1 study proposal, researchers endeavored to identify low-income children with high PGS for education-related outcomes (eg, educational attainment, reading ability) and direct educational resources to them.⁵⁴ Social and behavioral genomics researchers have also claimed that improving school experiences could mitigate the effects of genes. For instance, another study concluded that education reform “might prevent genetic influences on crime from unfolding” by mitigating the effects of genes through environmental intervention.⁵⁵

Finally, in the hopes of learning more about the effects of genes on educational outcomes, US K-12 educational institutions have been approached by social and behavioral genomics researchers with requests to genotype children. The John’s Hopkins University Center for Talented Youth, for instance, received such a request from researchers conducting a study on the genetics of intelligence.⁵⁶ Additionally, researchers at Yale University partnered with New Haven Public Schools to assess the reading and cognitive abilities of first-graders in the hopes of creating a “genetic screener for dyslexia.”⁵⁷ Novel simulation methods have since demonstrated that PGS could feasibly be used alongside other screening tools to identify children who may struggle academically.⁴⁵ As diagnoses for disorders such as attention-deficit hyperactivity disorder increase, PGS may become a screening tool to aid in diagnosis or to identify students who might benefit from heightened monitoring and preventative intervention.⁵⁸

Ethical and Social Implications

For pediatric populations that are widely considered to be vulnerable, social and behavioral genomics research and its applications hold several ethical and social implications. By and large, pediatric populations are not given the opportunity to weigh in on many decisions that affect their health and well-being, such as their schooling (particularly in K-12) and their participation in research or clinical care; this is even though specific pediatric populations, such as adolescents, are not only a target of DTC genetic testing companies, but increasingly want to be involved, and have a say, in genomic decisions that are relevant to them.⁵⁹ Decisions that affect the experiences and lifelong trajectories of pediatric populations are frequently made by parents, physicians, educators, and scientists. For these stakeholder groups to appropriately protect children, they must fulfill their obligation to minimize harms against and promote benefits to them. Doing so requires a thorough examination of the ethical and social implications of scientific research such as social and behavioral genomics.

Misinterpretation and Overinterpretation of PGS

There is significant potential for misinterpretation or overinterpretation of PGS results. This point is especially so for social and behavioral traits and outcomes that often hold social value (eg, educational attainment) and can be difficult to divorce from a long and ugly history of research abuse. The technological infancy of PGS, excessive optimism about technology, and the public’s tendency to think of genes as immutable and unchanging are key reasons why the capabilities of PGS are likely to be misinterpreted or overstated.^16,60

Today, K-12 students in the US are taught the Mendelian theory of inheritance, which is an outdated and oversimplified theory of genetic transmission. Notably absent from the Mendelian theory is the probabilistic nature of genes. This simplistic and determinist education may, thus, makes it more difficult for individuals to understand the complexities of polygenic traits and outcomes.⁶¹ Prospective parents, for instance, may make reproductive decisions using PGS information (eg, via the growing polygenic embryo selection industry) without understanding the differences between relative and absolute risks.⁶² That is, they may mistakenly believe that selecting an embryo with a low-percentile PGS will dramatically decrease, if not eliminate, their future child’s chances for exhibiting a phenotype, and vice versa. If, for example, their child were to exhibit a phenotype such as dyslexia, despite their having selected an embryo with a low-percentile PGS for dyslexia, parents may find themselves disappointed, confused, and even angry with the clinicians who helped them navigate preimplantation PGS genetic testing.^63,64

Relatedly, children may experience negative psychosocial impacts from learning their own PGS results. In the prior example, parents’ misunderstandings of PGS could lead their child—who exhibits a phenotype that parents thought they had selected against—to feel like they are a mistake. Moreover, research has shown the potential of PGS to give rise to harmful self-fulfilling prophecies in educational settings.²³ Participants asked to imagine having received a low-percentile PGS for educational attainment reported significantly lower self-esteem and self-conceptions of competence, academic efficacy, and educational potential than participants assigned to a control condition, or participants asked to imagine a high-percentile PGS for educational attainment. For pediatric populations who are already experiencing increased mental distress, the PGS for socially valued behaviors and outcomes run the risk of exacerbating poor emotional and mental health.⁶⁵

Stigmatization

Social and behavioral genomic research also holds the potential to worsen existing stigma and create new forms of stigma. Special attention will, therefore, need to be devoted to appropriately describing the limitations of PGS to those who make decisions that affect the lives and well-being of children and adolescents. For instance, educators have a significant impact on the educational trajectories of their students, affecting their academic achievement and progression into and through higher education.⁶⁶ White teachers systematically expect less of their Black students, and a recent survey found that 1 in 4 teachers believe genetics can help to explain why White students outperform their Black peers.^67,68 Additional prior research has demonstrated that, although teachers are interested in the role and relevance of genomics for education and view genes as playing an important role in shaping human behavior, they commonly receive little to no formal training in genetics.^22,69 Without a nuanced and appropriate understanding of PGS, educators may stigmatize students based on their PGS results and adversely affect their educational trajectories.

In short, the advent of PGS for education-related outcomes could affect pediatric populations by shaping the perceptions of those, like educators, who play an important role in their development but have limited knowledge of genetics. Consider, for example, how PGS information may influence the child-rearing decisions of parents of multiple children. Whether intentionally or not, parents who falsely view PGS information as destiny may end up implicitly stigmatizing a child with a low-percentile education-related PGS (eg, math ability), while nurturing their sibling with a high-percentile PGS. Stigmatization could also occur during adoption processes. Although there is an existing body of literature on the ethics of preadoption genetic testing, this literature has yet to take into account the implications of PGS information.^70,71 If prospective parents receive the PGS results of potential adoptees, it may result in them favoring children with a high-percentile PGS (over children with a low-percentile PGS) for socially valued behaviors and outcomes such as educational attainment. Professional organizations such as the American Society for Human Genetics have recommended against any kind of preadoption genetic testing that is not routine.⁷⁰ However, there are no current US laws or federal regulations that would prohibit such testing from occurring before adoption.⁷²

Premature Introduction of PGS into Clinical Settings

There are additional concerns besides those that arise when PGS information is misunderstood, overstated, or used to engender stigma. These include worries about the premature introduction of PGS into clinical settings and the strain such an introduction could place on already burdened healthcare systems (eg, via an influx of patient requests to have DTC genetic test results interpreted for them).⁷³ Uncertainty exists around how exactly to report PGS results so that they can be translated into clinical applications and who should communicate these results to patients.⁷⁴ Studies show that clinicians only have a limited knowledge of genetics, especially of emerging tools such as GWAS and PGS.⁷⁵ Thus, it will be a challenge to figure out how to appropriately support pediatric patients, their families, and their clinicians in understanding this new source of information.

Genetic counselors, are, in theory, a group that is well-positioned to help patients and their families interpret PGS results.^76,77 Indeed, some genetic counselors are already having to do so. In vitro fertilization companies such as Orchid Health and Genomic Prediction, which now offer polygenic embryo selection to prospective parents, have genetic counselors on staff.^78,79 Moreover, patients who purchase DTC genetic testing are turning to genetic counselors to help them make sense of their results. However, even genetic counselors may lack the necessary skills to interpret PGS results.⁸⁰ Even if they did have the necessary skills, there is a significant shortage of genetic counselors, especially genetic counselors from diverse backgrounds, making it difficult for patients, especially those from backgrounds under-represented in the genetic counselling profession, to access this expertise.⁸¹

Given these limitations, and limited public knowledge about the genetic counseling profession, it is possible that other clinicians, such as pediatricians, will soon encounter requests for PGS interpretation. However, without proper genomic education, clinicians, including pediatricians, may make inaccurate (at best) and harmful (at worst) medical and child-rearing recommendations as PGS information continues to grow in availability and accessibility and is incorporated into clinical care.

Allocation of Resources, Equity, and Justice

Researchers are already starting to advocate for the use of social and behavioral genomics to determine resource allocation.^53,82 Although these arguments often advocate for giving additional supports and tailored interventions to those deemed most at risk, it is important to consider both that PGS are extremely limited in predictive accuracy, and that social and behavioral genomics are currently available and being accessed by those with the means and resources to pay for DTC services. Further, the limited predictive accuracy at the level of individuals is further exacerbated by the limited generalizability discussed elsewhere in this commentary: PGS are more likely to misidentify outcomes in individuals of non-European genetic ancestries.^39,41 The problem of portability is a major practical obstacle to be overcome before there can be any hope for equitable applications of PGS-tailored interventions or resource allocations.

Practical challenges regarding the predictive limitations of PGS aside, resource allocation is inextricably tied to matters of equity and justice. Even if social and behavioral genomics prove actionable and beneficial, the question of how to ensure these benefits are equitably distributed remains. In educational settings, for example, wealthy parents and caregivers are known to hoard opportunities at the expense of less resourced, lower income children.⁸³ One could imagine a situation in which a well-resourced parent approaches a school requesting proactive reading supports for their child because the child’s PGS results for dyslexia are in the 90th percentile. Furthermore, wealthy prospective parents are now able to incorporate PGS information into embryo selection decisions.⁷⁸ Given the disproportionate rates with which PGS information is accessed by those with privilege⁸⁴—whether financial, racial/ethnic, ableist, educational, or otherwise—it is difficult to imagine how this information will be used to secure rather than stymie justice and equity in clinical and social settings.

Privacy and Confidentiality

As a vulnerable population that is frequently unable to provide informed consent on their own, pediatric populations must contend with decisions that caregivers make for them that can have lasting impacts on their life-long trajectories.⁵⁹ The heightened sensitivity of social and behavioral phenotypes raises important privacy and confidentiality concerns. The 2008 Genetic Information Nondiscrimination Act outlaws workplace or health insurance discrimination based on genotype.⁸⁵ However, this law does not protect against genetic discrimination in other settings, such as long-term care, education, life insurance, or disability insurance.⁸⁶ In addition, the Americans with Disabilities Act does not apply to genetic information regarding predispositions.^87,88 As such, parents and caregivers who make the decision to genotype children for behaviors and outcomes such as income, regardless of initial intent, may further down the line expose their child to the risk of genetic discrimination in, for instance, financial lending. There is further the risk that, once in adulthood, individuals would regret—or disagree—with earlier decisions for testing that were made by their caregivers and resulted in their invasion of privacy.^89,90 Finally, privacy protections in educational settings differ from those in medical settings bound by the Health Insurance Portability and Accountability Act.⁸⁸ This means that, if PGS results were to be incorporated into a student’s school medical forms, access to such information by a broader set of parties—from teachers to school principals, administrators, and others involved in a child’s education—would be easier (although some states such as California have more extensive protections that do extend to education).^91,92 In short, given the currently inadequate protections that exist against genetic discrimination, it is important to consider whether the confidentiality of sensitive sociobehavioral genetic information can be adequately secured.

Conclusions

Genes, and the social narratives we tell about them, continue to grip the popular imagination. In particular, claims regarding genetic differences in human behavior and social outcomes have been a pervasive and oftentimes ugly feature of American society, at least since the eugenics movement of the twentieth century. As with any research, social and behavioral genomics carries both risk and potential benefit. Yet the durability of harmful social narratives about genes and human behavior heightens the sensitivity with which social and behavioral genomic research should be conducted. Deeply understanding current and near-future applications of social and behavioral genomic data and the limitations of these data are, therefore, fundamental to ensure that the optimism and promise that often accompany scientific research do not overshadow the need for appropriate caution and understanding of potential risk.

For pediatrics, social and behavioral genomics and its implications have thus far received little attention despite the significant ethical and social implications of this research for populations under the age of 18. The responsibility to promote the health and well-being of children and adolescents is not limited to any one community; clinicians, caregivers, researchers, and pediatric populations themselves are all critical for realizing this aim. Likewise, securing the ethical conduct and translation of social and behavioral genomics is not the responsibility of any one community. Stakeholders who both affect and who are affected by this nascent field will need to collectively and collaboratively respond to the growing onslaught of social and behavioral genomic data and the risks and potential benefits that come with it for pediatric populations. Facilitating dialogue between clinicians, caregivers, researchers, and pediatric populations, and improving genetic literacy, can help to protect against ill-constrained technological progression that may otherwise work against rather than for those who have the best interests of children in mind.

Glossary

DTC

Direct-to-consumer

GWAS

Genome-wide association study

PGS

Polygenic scores