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From my perspective, science communication goes beyond the mere transmission of information from experts to non-experts. Science communication is dynamic and influenced by personal characteristics and sociopolitical context. As scientists, we not only need to know our audience but also understand ourselves better. The main topics of this presentation are (i) literacy and the use of jargon when talking about genetics; and (ii) specific cognitive biases in how we process information about genetics, including how personal values and experiences can influence how we understand scientific information. The talk will be structured in two sections: The first section synthesises our previous work on public understanding of genetics. First, I will discuss a survey study on genetic literacy and public attitudes towards genetic testing in mental health. In this study, we surveyed families that had previously participated in genetic research studies at QIMR Berghofer, Australia (N=3,974), and the general population from the U.K. (N=501) and the U.S. (N=500). Results showed a high interest in psychiatric genetic testing, but the potential for negative impact of such information is also high, with more than a third of the participants showing serious concerns relating to learning about personal genetic predisposition. Concerns were mitigated by higher levels of genetic literacy, leading to less worry about coping with learning about a high genetic predisposition for several mental health problems and less prejudice against people with a high genetic predisposition. Second, I will discuss our recent review on online media articles covering genome-wide association studies (GWAS). We show that we might be missing a major opportunity for increasing general knowledge about genetic findings. Indeed, ∼95% of the news sites and blogs on GWAS used a language too complex to be understood by most adults. Most news articles used the terms 'RNA', 'risk', 'gene', 'genome', and 'DNA', while the terms 'marker, 'polymorphism', or 'allele', rarely appeared. To contextualise these results, I will present new data from our survey showing the results from a modified version of the Rapid Estimate of Adult Literacy in Genetics (REAL-G), which evaluates how familiar the public is with the terms 'genetics', 'chromosome', 'susceptibility', 'mutation', 'genetic variant', 'heredity', and 'polygenic'. I will briefly touch on the concept of 'framing', or how interpretation of information can be influenced by the presence or absence of certain words or images. For example, media on GWAS tends to focus on 'risk' (mentioned in 63.7% of articles) versus 'susceptibility' (12.2%) or 'protect' (11.3%) – the stem of words such as 'protective'. In the second section, I will discuss previous research on genetic determinism as a cognitive bias, as well as the role of motivated cognition. That is, we are not passive or even objective recipients of scientific information, but rather we strategically choose facts that align with our goals or ignore particularly threatening information. I will frame this work from the perspective of current research on public attitudes towards climate change, which arguably has become the most prolific discipline in science communication research in recent times. I will finish the presentation mentioning some examples of good practices in the field, including the consultation process to recontact Aboriginal and Torres Strait Islander people at QIMR Berghofer. [ABSTRACT FROM AUTHOR]

Endogenous retroviruses (ERVs) have rewired host gene networks. To explore the origins of co-option, we employed an active murine ERV, IAPEz, and an embryonic stem cell (ESC) to neural progenitor cell (NPC) differentiation model. Transcriptional silencing via TRIM28 maps to a 190 bp sequence encoding the intracisternal A-type particle (IAP) signal peptide, which confers retrotransposition activity. A subset of "escapee" IAPs (∼15%) exhibits significant genetic divergence from this sequence. Canonical repressed IAPs succumb to a previously undocumented demarcation by H3K9me3 and H3K27me3 in NPCs. Escapee IAPs, in contrast, evade repression in both cell types, resulting in their transcriptional derepression, particularly in NPCs. We validate the enhancer function of a 47 bp sequence within the U3 region of the long terminal repeat (LTR) and show that escapee IAPs convey an activating effect on nearby neural genes. In sum, co-opted ERVs stem from genetic escapees that have lost vital sequences required for both TRIM28 restriction and autonomous retrotransposition. [Display omitted] • Tracking the transcriptional fate of ERVs through neural differentiation sheds light on co-option • Most ERVs succumb to H3K9me3 deposition in ESCs and additionally bear H3K27me3 in NPCs • ERVs that activate host genes have undergone genetic escape from TRIM28 repression and are expressed • Evasion of silencing is an evolutionary trade-off that comes with the loss of retrotransposition Potentially harmful endogenous retroviruses can gain beneficial host functions in development and immunity in a process termed co-option. Enriquez-Gasca et al. demonstrate the early steps of this process by showing that endogenous retroviruses undergo genetic changes that allow them to evade transcriptional silencing and activate neural genes. [ABSTRACT FROM AUTHOR]

Background Context: Pain is commonly associated with symptoms of depression or anxiety, although this relationship is considered bidirectional. There is limited knowledge regarding causal relationships.Purpose: This study aims to investigate whether chronic low back pain (LBP) increases the risk of depression or anxiety symptoms, after adjusting for shared familial factors.Study Design: This is a longitudinal, genetically informative study design from the Murcia Twin Registry in Spain.Patient Sample: The patient sample included 1,269 adult twins with a mean age of 53 years.Outcome Measures: The outcome of depression or anxiety symptoms was evaluated with EuroQol questionnaire.Methods: Using logistic regression analyses, twins were initially assessed as individuals in the total sample analysis, followed by a co-twin case-control, which was partially (dizygotic [DZ] twins) and fully (monozygotic [MZ] twins) adjusted for shared familial factors. There was no external funding for this study and no conflict of interest was declared.Results: There was a significant association between chronic LBP and the risk of depression or anxiety symptoms in the unadjusted total sample analysis (odds ratio [OR]: 1.81, 95% confidence interval [CI]: 1.34-2.44). After adjusting for confounders, the association remained significant (OR: 1.43, 95% CI: 1.05-1.95), although the adjusted co-twin case-control was non-significant in DZ (OR: 1.03, 95% CI: 0.50-2.13) and MZ twins (OR: 1.86, 95% CI: 0.63-5.51).Conclusions: The relationship between chronic LBP and the future development of depression or anxiety symptoms is not causal. The relationship is likely to be explained by confounding from shared familial factors, given the non-statistically significant associations in the co-twin case-control analyses. [ABSTRACT FROM AUTHOR]

Abstract: Background: Recent genome-wide association studies (GWAS) have identified associations with myocardial infarction and coronary artery disease (CAD), but the mechanisms underlying these associations remain largely unclear. Carotid intima-media thickness (IMT) is a measure of early arterial remodeling and arteriosclerosis. Therefore, if CAD associated SNPs are also associated with carotid IMT; it suggests that they are acting via the early stages of the atherosclerotic process. Methods: In three large community based independent populations (CAPS, KORA and Young Finns) of European ancestry in which common carotid IMT had been measured (total 4961 individuals), we determined whether SNPs that have been associated with CAD in GWAS studies are also associated with carotid IMT. Associations with plaque were not examined. Results: We identified 11 SNPs and one haplotype previously associated with CAD. None of these were associated with common carotid IMT. Conclusions: We found no evidence that SNPs associated with CAD on GWAS are also associated with carotid IMT. This suggests these genetic associations are not acting via early vessel remodeling or early arteriosclerosis. [Copyright &y& Elsevier]

Lower levels of circulating iron have been associated with depression. Our objective was to investigate the phenotypic and genetic relationship between measures of circulating levels of iron (serum iron, transferrin, transferrin saturation, and ferritin) and depressive symptoms. Data were available from ongoing studies at QIMR Berghofer Medical Research Institute (QIMRB), including twin adolescents (mean age 15.1 years, standard deviation (SD) 3.2 years), and twin adults (mean age 23.2 years, SD 2.2 years). In the adolescent cohort, there were 3416 participants from 1688 families. In the adult cohort there were 9035 participants from 4533 families. We estimated heritabilities of, and phenotypic and genetic correlations between, traits. We conducted analyses that linked results from published large-scale genome-wide association studies (including iron and Major Depressive Disorder) with our study samples using single SNP and multi-SNP genetic risk score analyses, and LD score regression analyses. In both cohorts, measures of iron, transferrin, transferrin saturation, and log 10 of ferritin (L10Fer) were all highly heritable, while depressive measures were moderately heritable. In adolescents, depression measures were higher in those in the middle 10th versus top 10th percentile of transferrin saturation measures (p = 0.002). Genetic profile risk scores of the iron measures were not significantly associated with depression in study participants. LD score analyses showed no significant genetic relationship between iron and depression. Genetic factors strongly influence iron measures in adolescents and adults. Using several different strategies we find no evidence for a genetic contribution to the relationship between blood measures of iron and measures of depression. [ABSTRACT FROM AUTHOR]