Monday, March 1, 2021

Rolf Degen summarizing... Recent genome-wide association studies have shown that genetic influences on psychological traits are driven by thousands of DNA variants, each with very small effect sizes; effects of "the environment" appear to be as fragmented and unspecific

From Genome-Wide to Environment-Wide: Capturing the Environome. Sophie von Stumm, Katrina d’Apice. Perspectives on Psychological Science, March 1, 2021. https://doi.org/10.1177/1745691620979803

Rolf Degen's take: Recent genome-wide association studies have shown that genetic influences on psychological traits are driven by thousands of DNA variants, each with very small effect sizes. Effects of "the environment" appear to be as fragmented and unspecific

Abstract: Genome-wide association (GWA) studies have shown that genetic influences on individual differences in affect, behavior, and cognition are driven by thousands of DNA variants, each with very small effect sizes. Here, we propose taking inspiration from GWA studies for understanding and modeling the influence of the environment on complex phenotypes. We argue that the availability of DNA microarrays in genetic research is comparable with the advent of digital technologies in psychological science that enable collecting rich, naturalistic observations in real time of the environome, akin to the genome. These data can capture many thousand environmental elements, which we speculate each influence individual differences in affect, behavior, and cognition with very small effect sizes, akin to findings from GWA studies about DNA variants. We outline how the principles and mechanisms of genetic influences on psychological traits can be applied to improve the understanding and models of the environome.

Keywords: genomics, genetics, environment, large data, effect sizes

Throughout this article, we have highlighted ways in which psychological science may take inspiration from genomic research to advance the understanding and models of environmental influences. Our aim is now to outline the steps that we believe are essential to bring about an effective research agenda for the environome.

A first challenge—having the technical tools available to capture the environome—is under way, although it is far from being complete. The environome comprises an infinite number of dynamic processes, whose assessment requires robust technologies that enable collecting precise, in-depth observations at multiple time points with little measurement error (Wild, 2012). Although assessment technologies have rapidly improved in recent years, capturing even one individual’s environome in its totality remains impossible to date (Roy et al., 2009).

The second challenge is to develop the computational methods required for modeling these rich data, for example using machine-learning approaches such as data mining and cluster analysis. This challenge is not specific to studies of the environome but shared with analyses of the genome. Although current GWA studies already incorporate a vast number of SNPs, they typically include only a fraction of the potentially available genomic information (Wainschtein et al., 2019). Another parallel between genome and environome suggests itself here: GWA studies currently consider only additive effects of SNPs, although interactions are plausible. Likewise, environmental factors are likely to involve interactive effects between each other in addition to additivity and collinearity. We predict that statistical advances in genomics will prevail at a fast pace and that they will be applicable not only to the genome but also to studies of the environome.

The third challenge is to develop a theoretical framework for organizing and modeling the environome and its influence on complex traits. We anticipate that this challenge can be met only through large-scale collaborations, akin to the consortia that dominate contemporary genetic research, such as the Psychiatric Genomics Consortium; https://www.med.unc.edu/pgc/) that focuses on mental health issues or the Social Science Genetic Association Consortium (https://www.thessgac.org/) that targets social science outcomes, as its name suggests. These and other consortia like them typically involve hundreds of researchers and organizations that engage in interdisciplinary collaborations and pool data across biobanks, population cohort studies, and independent samples. They offer extraordinary opportunities for scientific breakthroughs: The majority of the recent discoveries about the role of genetic influences of people’s differences in psychological traits emerged on the back of the work completed in consortia. For modeling the environome, longitudinal population cohort studies, which are typically defined by the year or decade of the cohort members’ birth and by the geographical scope from which they were recruited, will be of particular value (Cave & von Stumm, 2020). For one, longitudinal cohort studies can elucidate at least some of the environome’s dynamic changes that occur across people’s life span because cohort members are repeatedly assessed over time, including observations of the prenatal environment in some cases. For the other, population cohort studies are key to exploring the environome’s socio-historical development across generations—in other words, how the environmental experiences of today’s children differ from their parents’ and grandparents’ environmental experiences.

Rather than creating new consortia or shifting attention away from existing ones, we suggest broadening their scope to also pool data and expertise on the environome. Akin to the HapMap Project, a first step for a systematic research program into the environome would call for charting the breadth of environments that humans experience. A bottom-up approach, for example by creating comprehensive archives of environmental measures that are available across biobanks, population cohort studies, and independent samples, has some appeal. The alternative top-down approach would involve developing a theoretical taxonomy that could be applied to categorize observations of environments, including those already collected in previous studies, and then be subjected to empirical validation. An encouraging example is the DIAMONDS taxonomy that proposes eight dimensions to classify psychological situations by the extent to which they pertain to duty (i.e., something has to be done), intellect (i.e., learning opportunity), adversity (i.e., threat), mating (i.e., sexually charged), positivity (i.e., playfulness), negativity (i.e., stress), deception (i.e., sabotage), and sociality (i.e., social interaction; Rauthmann et al., 2014). Although the DIAMONDS taxonomy has to date been applied to only a select number of contexts and is fairly abstract, its theoretical framework may inspire analogous models for describing the environome.

GWA studies serve to identify genetic predictors of developmental differences in psychological traits, but they currently offer little value for elucidating the causality that underlies this prediction (Belsky & Harden, 2019). Likewise, the framework we proposed here for modeling the environome focuses on prediction. It does not qualify for finding the functional or causal mechanisms that explain why certain environmental conditions benefit phenotypic development more than others. Although not always appreciated, accurate prediction of psychological traits is immensely precious in itself because it enables identifying risk and resilience before problems manifest. In addition, a better understanding of the environome will help generate hypotheses that in the future can facilitate direct tests of causality, akin to current endeavors in functional genomics that try to make sense of gene and protein functions and interactions.

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