Progressive supranuclear palsy is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP and 3,247 controls followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for (...) the stage 1 SNPs that yielded P ≤ 10-3. We found significant previously unidentified signals associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component. © 2011 Nature America, Inc. All rights reserved. (shrink)

ABSTRACTSome people might argue that there are already too many different documents, guidelines, and regulations in bioethics. Some overlap with one another, some are advisory and lack legal force, others are legally binding in countries, and still others are directed at narrow topics within bioethics, such as HIV/AIDS and human genetics. As the latest document to enter the fray, the UNESCO Declaration has the widest scope of any previous document. It embraces not only research involving human beings, but addresses broader (...) concerns in medicine and healthcare. The UNESCO draft declaration has some minor weaknesses, but on the whole, the strengths outweigh the weaknesses. One weakness is that some items in the draft are stated in a way that is too restrictive, thereby appearing to rule out legitimate activities. A strength of the Declaration is that it is relatively brief, yet at the same time contains sufficient detail to make it something more than a rehearsal of mere pieties. As the most recent of the numerous bioethics and human rights documents, the UNESCO draft draws on many of the earlier documents and also includes some of the most recent thinking about ethical norms and obligations. Perhaps its greatest strength lies not in details of the principles or their implementation, but rather in its stature as an international declaration issued by a United Nations organization. (shrink)

Arguably, no psychological variable has received more attention from behavioral geneticists than what has been called “general cognitive ability” (as well as “general intelligence” or “g”), and for good reason. GCA has a rich correlational network, implying that it may play an important role in multiple domains of functioning. GCA is highly correlated with various indicators of educational attainment, yet its predictive utility is not limited to academic achievement. It is also correlated with work performance, navigating the complexities of everyday (...) life, the absence of various social pathologies (such as criminal convictions), and even health and mortality. Although the causal basis for these associations is not always known, it is nonetheless the case that research on GCA has the potential to provide insights into the origins of a wide range of important social outcomes. In this essay, our discussion of why GCA is considered a fundamentally important dimension of behavior on which humans differ is followed by a look at behavioral genetics research on CGA. We summarize behavioral genetics research that has sought to identify and quantify the total contributions of genetic and environmental factors to individual differences in GCA as well as molecular genetic research that has sought to identify genetic variants that underlie inherited effects. (shrink)

Recently, several genetic variants have been associated with increased or decreased risks of becoming infected and/or seriously ill with COVID-19—not only offering important potential medical benefits but also posing critical ethical questions. These genetic factors, some of which are associated with blood type, may account for variations in observed responses to COVID-19. Hence, assessments of these genetic differences and blood type could provide possible benefits in gauging patients’ risks of disease acquisition and prioritising allocation of interventions (...) or vaccines, if supplies are limited. The media has widely reported these findings, and people online are now discussing their blood type and its possible effects on their COVID-19 risks, but several ethical concerns arise. Individuals possessing genetic variants or blood types associated with lower risk may engage in ‘risk compensation’, erroneously assuming that they can protect themselves less, and hence less frequently wearing masks or washing hands. Given the ongoing COVID-19 pandemic, many physicians, hospitals, patients, policymakers, members of the public, testing companies and others may well consider these factors in making critical prevention/treatment decisions. Researchers, providers and others should thus begin to address these concerns. Increased awareness and education aimed at providers, patients, family members, public health officials, political leaders and the public-at-large are critical. Attitudinal research is vital to examine how providers, patients and the public understand these findings. Ethical frameworks and guidelines are needed, addressing whether such genetic information should be incorporated into decisions regarding allocation of scarce resources—including hospital and ICU beds, ventilators, medications and vaccines—and if so, how. (shrink)

BackgroundClinical ethical practice (CEP) is required for healthcare workers (HCWs) to improve health-care delivery. However, there are gaps between accepted ethical standards and CEP in Ethiopia. There have been limited studies conducted on CEP in the country. Therefore, this study aimed to determine the magnitude and associated factors of CEP among healthcare workers in healthcare facilities in Ethiopia.MethodFrom February to April 2021, a mixed-method study was conducted in 24 health facilities, combining quantitative and qualitative methods. Quantitative (survey questionnaire) and qualitative (...) (semi-structured interviews) data were collected. For quantitative and qualitative data analysis, Stata version 14 and Atlas.ti version 7 were utilized. Multiple logistic regression and thematic analysis for quantative and qualitative respectively used.ResultsFrom a total of 432 study participants, 407 HCWs were involved in the quantitative analysis, 36 participants were involved in five focus group discussions (FGDs), and eleven key informant interviews (KIIs) were involved in the qualitative analysis. The score of good CEP was 32.68%. Similarly, the scores of good knowledge and attitude were 33.50% and 25.31%, respectively. In the multiple logistic regression models, satisfaction with the current profession, availability of functional CECs, compassionate leaders, previously thought clinical ethics in pre-service education and good attitude were significant factors associated with CEP. Among these significant factors, knowledge, compassionate leaders, poor infrastructure, a conducive environment and positive attitudes were also determinants of CEP according to qualitative findings.ConclusionsThe CEP in health care services in Ethiopia is low. Satisfaction with the current profession, functional CECs, positive attitude, compassionate leaders and previously thought clinical ethics were significant factors associated with CEP. The Ministry of Health (MoH) should integrate interventions by considering CECs, compassionate leadership, and positive attitudes and enhance the knowledge of health professionals. Additionally, digitalization, intersectoral collaboration and institutionalization are important for promoting CEP. (shrink)

In August of 2018, the results of the largest genomic investigation in human history were published. Scanning the DNA of over one million participants, a genome‐wide association study was conducted to identify genetic variants associated with the number of years of education a person has completed. This measure, called “educational attainment,” is often treated as a proxy for intelligence and cognitive ability. The study raises a host of hard philosophical questions about study design and strength of evidence. (...) It also sets the basis for something far more controversial. Using a new genomic method that generates “polygenic scores,” researchers are now able to use the results of the study to predict a person's educational potential from a blood or saliva sample. Going a step further, some researchers have begun to promote “precision education,” which would tailor students’ school plans to their genetic profiles. The idea of precision education provokes concerns about stigma and self‐fulfilling prophecies. (shrink)

Research on how genetics contribute to human behavior and achievement raises many bioethical questions. What are we to make, for example, of a study published last year that found that students with genetic variants associated with educational attainment (years of education) took more advanced math classes in ninth grade? Does this finding have implications for education practice? Should it? How so? Questions like these serve as reminders that genetic science has long been misused to draw (...) conclusions about individuals and groups of people, conclusions laced with racism and other biases. As research on human genomics ramps up, now is the time to ramp up science communication about what these studies do and, importantly, do not show. A new feature on The Hastings Center's website does just that. (shrink)

Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. We now report two associations at genome-wide significance identified and replicated at PRSS1-PRSS2 and X-linked CLDN2 through a two-stage genome-wide study. The PRSS1 variant likely affects disease susceptibility by altering expression of the primary trypsinogen gene. The CLDN2 risk (...) allele is associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous CLDN2 genotype confers the greatest risk, and its alleles interact with alcohol consumption to amplify risk. These results could partially explain the high frequency of alcohol-related pancreatitis in men. © 2012 Nature America, Inc. All rights reserved. (shrink)

In late 2021, tennis star Chris Evert learned new genetic information about her sister, who died from ovarian cancer in January 2020. As Evert has explained in posts published by ESPN, her sister had a variant in the BRCA1 gene that was reclassified—upgraded—from a variant of uncertain significance (VUS) to pathogenic. Hearing about the variant’s reclassification likely saved Evert’s life. After getting genetic testing that showed she also carried the variant, Evert underwent prophylactic surgery. Clinical testing associated with (...) the procedure revealed she already had stage 1c ovarian cancer. The Wall Street Journal reported on a different variant reclassification story in 2019. Seven female relatives had prophylactic surgeries after cascade genetic testing indicated they each carried the same pathogenic variant in BRCA2. However, there was significant distress and confusion when one of the women received notice that the variant had been downgraded from pathogenic to a VUS. As these cases illustrate, reclassification of the clinical significance of genetic variants—which ranges from pathogenic, likely pathogenic, uncertain, likely benign and benign—can have profound impacts on individuals and families. Although genetic testing often provides valuable information, many identified variants are of uncertain significance, even in genes associated with disease. Many of these VUS will be reclassified as genomic data …. (shrink)

Dopamine is critically important in the neural manifestation of motivated behavior, and alterations in the human dopaminergic system have been implicated in the etiology of motivation-related psychiatric disorders, most prominently addiction. Patients with chronic addiction exhibit reduced dopamine D2 receptor (DRD2) availability in the striatum, and the DRD2 TaqIA (rs1800497) and C957T (rs6277) genetic polymorphisms have previously been linked to individual differences in striatal dopamine metabolism and clinical risk for alcohol and nicotine dependence. Here, we investigated the hypothesis that (...) the variants of these polymorphisms would show increased reward-related memory formation, which has previously been shown to jointly engage the mesolimbic dopaminergic system and the hippocampus, as a potential intermediate phenotype for addiction memory. To this end, we performed functional magnetic resonance imaging (fMRI) in 62 young, healthy individuals genotyped for DRD2 TaqIA and C957T variants. Participants performed an incentive delay task, followed by a recognition memory task 24 h later. We observed effects of both genotypes on the overall recognition performance with carriers of low-expressing variants, namely TaqIA A1 carriers and C957T C homozygotes, showing better performance than the other genotype groups. In addition to the better memory performance, C957T C homozygotes also exhibited a response bias for cues predicting monetary reward. At the neural level, the C957T polymorphism was associated with a genotype-related modulation of right hippocampal and striatal fMRI responses predictive of subsequent recognition confidence for reward-predicting items. Our results indicate that genetic variations associated with DRD2 expression affect explicit memory, specifically for rewarded stimuli. We suggest that the relatively better memory for rewarded stimuli in carriers of low-expressing DRD2 variants may reflect an intermediate phenotype of addiction memory. (shrink)

Diseases of complex origin have a component of quantitative genetics that contributes to their susceptibility and phenotypic variability. However, after several studies, a major part of the genetic component of complex phenotypes has still not been found, a situation known as “missing heritability.” Although there have been many hypotheses put forward to explain the reasons for the missing heritability, its definitive causes remain unknown. Complex diseases are caused by multiple intermediate phenotypes involved in their pathogenesis and, very often, each (...) one of these intermediate phenotypes also has a component of quantitative inheritance. Here we propose that at least part of the missing heritability can be explained by the genetic component of intermediate phenotypes that is not detectable at the level of the main complex trait. At the same time, the identification of the genetic component of intermediate phenotypes provides an opportunity to identify part of the missing heritability of complex diseases. (shrink)

This paper describes some likely semiotic consequences of genetic engineering on what Gregory Bateson has called “the mental ecology” of future humans, consequences that are less often raised in discussions surrounding the safety of GMOs. The effects are as follows: an increased 1) habituation to the presence of GMOs in the environment, 2) normalization of empirically false assumptions grounding genetic reductionism, 3) acceptance that humans are capable and entitled to decide what constitutes an evolutionary improvement for a species, (...) 4) perception that the main source of creativity and problem solving in the biosphere is anthropogenic. Though there are some tensions between them, these effects tend to produce self-validating webs of ideas, actions, and environments, which may reinforce destructive habits of thought. Humans are unlikely to safely develop genetic technologies without confronting these escalating processes directly. Intervening in this mental ecology presents distinct challenges for educators, as will be discussed. (shrink)

Significant associations have been found between specific human leukocyte antigen (HLA) alleles and organ transplant rejection, autoimmune disease development, and the response to infection. Traditional searches for disease associations have conventionally measured risk associated with the presence of individual HLA alleles. However, given the high level of HLA polymorphism, the pattern of amino acid variability, and the fact that most of the HLA variation occurs at functionally important sites, it may be that a combination of variable amino acid sites shared (...) by several alleles (shared epitopes) are better descriptors of the actual causative genetic variants. Here we describe a novel approach to genetic association analysis in which genes/proteins are broken down into smaller sequence features and then variant types defined for each feature, allowing for independent analysis of disease association with each sequence feature variant type. We have used this approach to analyze a cohort of systemic sclerosis patients and show that a sequence feature composed of specific amino acid residues in peptide binding pockets 4 and 7 of HLA-DRB1 explains much of the molecular determinant of risk for systemic sclerosis. (shrink)

Pretty much everyone knows that our genes have at least something to do with how able or how high achieving we are. Some believe that we should not speak of this common knowledge, nor inquire into how genetic influence works or what it might mean. If we do not keep an open mind to the fact of genetic influence on academic achievement, however, then we cannot explore its possible implications. And if we do not consider the implications, then (...) we cannot, as a society, harness any potential benefits or avoid possible pitfalls. So that's what this essay is about—exploring what behavioral genetics research might be able to offer to educational theory, policy, and practice.We cannot yet use biological information to make accurate predictions for all children. We do know, however, that academic achievement is heritable, which is to say that differences between individuals are influenced by differences in their DNA. If genes are part of the problem for some pupils (to take the negative spin on this), then it seems likely that studying them could be part of a solution. And that's what behavioral geneticists are trying to do—to chart and understand pathways from DNA to behavior and to identify interventions that can maximize outcomes for all. The fact is, though, that we have an awfully long way to go. (shrink)

Excerpt from Genetic Philosophy of Education: An Epitome of the Published Educational Writings, of President G Stanley Hall, of Clark University All must admit that there is a lack at the present time, at least among the rank and file of teachers, and in the public mind generally, of any adequate philoso phy of education, or even Of a point of view from which the themes of school and home can be dis cussed broadly and intelligently. The (...) older philoso phies of F roebel, Hegel, and Herbart are certainly in sufficient to meet present needs, and especially in the training of teachers is this painfully felt. They are not only obscure, and little inspiring, either Of breadth of thought or intelligent practice but they fail en tirely to connect with the teacher 3 daily life, unless they be taught in a very shallow and formal way. About the Publisher Forgotten Books publishes hundreds of thousands of rare and classic books. Find more at www.forgottenbooks.com This book is a reproduction of an important historical work. Forgotten Books uses state-of-the-art technology to digitally reconstruct the work, preserving the original format whilst repairing imperfections present in the aged copy. In rare cases, an imperfection in the original, such as a blemish or missing page, may be replicated in our edition. We do, however, repair the vast majority of imperfections successfully; any imperfections that remain are intentionally left to preserve the state of such historical works. (shrink)

Increased knowledge of the gene–disease associations contributing to common cancer development raises the prospect of population stratification by genotype and other risk factors. Individual risk assessments could be used to target interventions such as screening, treatment and health education. Genotyping neonates, infants or young children as part of a systematic programme would improve coverage and uptake, and facilitate a screening package that maximises potential benefits and minimises harms including overdiagnosis. This paper explores the potential justifications and risks of genotyping (...) children for genetic variants associated with common cancer development within a personalised screening programme. It identifies the ethical and legal principles that might guide population genotyping where the predictive value of the testing is modest and associated risks might arise in the future, and considers the standards required by population screening programme validity measures . These are distinguished from the normative principles underpinning predictive genetic testing of children for adult-onset diseases—namely, to make best-interests judgements and to preserve autonomy. While the case for population-based genotyping of neonates or young children has not yet been made, the justifications for this approach are likely to become increasingly compelling. A modified evaluative and normative framework should be developed, capturing elements from individualistic and population-based approaches. This should emphasise proper communication and genuine parental consent or informed choice, while recognising the challenges associated with making unsolicited approaches to an asymptomatic group. Such a framework would be strengthened by complementary empirical research. (shrink)

The rapid advances and scope of the Human Genome Project bring into sharp focus the relevance of genetics and ethics for nursing and midwifery practice in the new millennium. This article offers a UK perspective on how education plays a crucial part in preparing practitioners to integrate clinical advances effectively and ethically, yet may be failing in this role. Provision for teaching genetics in the UK has been found to be largely inadequate and the ethical implications of this are (...) reviewed. The context of genetics teaching is a further issue. Genetics is classified in the bioscience component of training courses in nearly 70% of UK nursing colleges; this may be of significance in its perceived relevance to practice. Finally, the ethical issues around the teaching of genetics will be discussed. Educators who are involved in delivering the genetics component of the curriculum are under an obligation to consider how learning is best achieved and how the delivery itself should be ‘ethical’. (shrink)

Book reviewed in this article: Coping with Genetic Disorders. By John C. Fletcher. Genetics, Ethics and Parenthood. Edited by Karen Lebacqz. Screening and Counseling for Genetic Conditions: The Ethical, Social, and Legal Implications of Genetic Screening, Counseling, and Education Programs. A report of the President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research.

The exponential growth of genetic knowledge and precision medicine research raises hopes for improved prevention, diagnosis, and treatment options for children with behavioral and psychiatric conditions. Although well-intended, this prospect also raise the possibility — and concern — that behavioral, including psychiatric genetic data would be increasingly used — or misused — outside the clinical context, such as educational settings. Indeed, there are ongoing calls to endorse a “personalized education” model that would tailor educational interventions to children's (...) behavioral and psychiatric genetic makeup. This article explores the justifications for, and prospects and pitfalls of such endeavors. It considers the scientific challenges and highlights the ethical, legal, and social issues that will likely arise should behavioral genetic data become available and are routinely incorporated in student education records. These include: when to disclose students' behavioral and psychiatric genetic profile; whose genomic privacy is protected and by whom; and how students' genetic data may affect education-related decisions. I argue that the introduction of behavioral genetics in schools may overshadow the need to address underlying structural and environmental factors that increase the risk for psychiatric conditions of all students, and that the unregulated use of student behavioral genetic profiles may lead to unintended consequences that are detrimental for individuals, families and communities. Relevant stakeholders — from parents and students to health professionals, educators, and policy-makers — ought to consider these issues before we forge ahead with a genomically informed education system. (shrink)

For much of its history, behavioral genetics, or research into the influence genetics has on human behavior, has been associated with a pessimistic view of educational reforms’ potential to make much difference in improving educational outcomes or reducing inequality. Recently, however, some behavioral geneticists have begun to speak in more optimistic terms about the promise of genetically informed education to improve learning for all children, especially those who are socially or economically disadvantaged. This shift in emphasis should be welcome (...) news for everyone interested in promoting educational improvement who worried that behavioral genetics offered support for the status quo. However, I think it amounts to little more than a shift in tone. Behavioral genetics, I will argue, does not advance educational reform: its proposed solutions are rooted in the limits, not the strength, of behavioral genetics knowledge; repeat the ideas of earlier U.S. educational reform efforts; and rely on a naive optimism about the power of choice and personalization. (shrink)

Genetic testing has historically been performed in the context of chronic disease and cancer diagnostics. The timelines for these tests are typically measured in days or weeks, rather than in minutes. As such, the concept that genetic information might be generated and then used to alter management in the acute setting has, thus far, not been feasible. However, recent advances in genetic technologies have the potential to allow genetic information to be generated significantly quicker. The m.1555A>G (...) genetic variant is present in one in 500 individuals and predisposes to profound hearing loss following the administration of aminoglycoside antibiotics. These antibiotics are used frequently in cases of neonatal sepsis and it is estimated that approximately 180 neonates in the UK are at risk of antibiotic induced hearing loss each year because of this genetic change. Knowledge of this variant in the acute setting would allow clinicians to prescribe alternative antibiotics. The Pharmacogenetics to Avoid Loss of Hearing study will implement a genetic point of care test for the m.1555A>G variant within two major UK based neonatal intensive care units. This represents the first trial of a genetic POCT aimed at altering management in the acute setting. This round table discussion outlines the novel ethical issues faced in the development of this trial and the legal barriers to implementation. We ask five stakeholders to provide their opinions on this trial and their perspectives on the concept of genetic testing in the acute setting.Trial registration numberISRCTN-13704894. (shrink)

© 2015, Springer-Verlag Berlin Heidelberg.Genetic studies have identified single nucleotide polymorphisms associated with the risk of prostate cancer. It remains unclear whether such genetic variants are associated with disease aggressiveness. The NCI-SPORE Genetics Working Group retrospectively collected clinicopathologic information and genotype data for 36 SNPs which at the time had been validated to be associated with PC risk from 25,674 cases with PC. Cases were grouped according to race, Gleason score and aggressiveness. Statistical analyses were used to (...) compare the frequency of the SNPs between different disease cohorts. After adjusting for multiple testing, only PC-risk SNP rs2735839 was significantly and inversely associated with aggressive and high-grade disease in European men. Similar associations with aggressive and high-grade disease were documented in African-American subjects. The G allele of rs2735839 was associated with disease aggressiveness even at low PSA levels in both European and African-American men. Our results provide further support that a PC-risk SNP rs2735839 near the KLK3 gene on chromosome 19q13 may be associated with aggressive and high-grade PC. Future prospectively designed, case-case GWAS are needed to identify additional SNPs associated with PC aggressiveness. (shrink)

The science and technology of genetic testing is rapidly advancing with the consequences that genetic testing may well offer the prospect of being able to detect the onset of future disabilities. Some recent research also indicates that certain behavioural profiles may have a strong genetic basis, such as the determination to succeed and win or the propensity for risk-taking, which may be of interest to third parties. However, as this technology becomes more prevalent there is a danger (...) that the genetic information may be misused by entities such as employers, insurance companies, educational facilities, and finance companies and that people with particular genetic profiles may be discriminated against.This book explores the different types and the potential uses of genetic testing. The book highlights the ethical and legal dilemmas and the challenges arising as a result of emerging and rapidly advancing genetic science. Chapters in the book assess the importance and impact of the US Genetic Information Non-Discrimination Act (GINA) in the employment and health insurance contexts asking whether it is proving to be an effective tool in addressing the issue of genetic discrimination and alleviating individuals' fears of discrimination. The book then goes on to make the case for regulation at the European Union level in order to protect the privacy of genetic information and to prevent the discriminatory use of genetic information in Europe. It considers what can be learnt from the experience of the US in addressing ethical and legal issues as well as the impact that the UN Convention on the Rights of Persons with Disabilities is having on this debate within the EU. (shrink)

Genetic research into ageing, longevity and late-onset disease is becoming increasingly common. Yet, there is a paucity of knowledge related to clinical actionability and the return of pathogenic variants to otherwise healthy elderly individuals. Whether or not genetic research in the elderly should be managed differently from standard practices adapted for younger populations has not yet been defined. In this article, we provide an overview of ethical and practical challenges in preparing for a genetic study of (...) over 14 000 healthy Australians aged 70 years or older enrolled in the ASPirin in Reducing Events in the Elderly Healthy Ageing Biobank. At the time of consent, all participants in this study were free of life-threatening illness, cardiovascular disease or cognitive impairment. ASPREE is thus a cohort of healthy elderly individuals with seemingly minimal burden of genetic disease recruited without ascertainment bias. The cohort presents a unique opportunity to address the penetrance of known pathogenic variants in a population without disease symptoms; however, it also raises a number of ethical concerns regarding the interpretation and disclosure of variants with known clinical actionability. Some of the challenges include how to manage the interpretation, disclosure and actioning of pathogenic variants found in otherwise healthy elderly adults without disease symptoms, whether or not to disclose findings for the benefit of family members rather than elderly consented donors themselves, how to manage the return of genetic findings to the elderly individuals who are now in severe cognitive decline or terminal illness, how to ensure quality of information and clinical service upon disclosure of results to this demographic and how to prepare for the insurance implications of disclosing genetic information under Australian law. We discuss these and other dilemmas and propose a defensible plan of management. Trial registration number ISRCTN83772183. (shrink)

A consideration of the genetics of sociopathy suggests the following. The author's Evolutionary Stable Strategy (ESS) types 2 to 4 are more likely than types 1 and 5 in crimes of violence, and there may not be an ESS for crimes of property or for sociopathy. Correlations between sociopathy and crimes of property are also more likely due to environmental than to genetic variants, and correlations between sociopathy and crimes of property are due more to environmental than (...) class='Hi'>genetic variants. (shrink)

Interpreting heritability estimates through the lens of cultural evolution presents two broad and interlinking problems for educational behavior genetics. First, the problem of interpreting high heritability of educational phenotypes as indicators of the genetic basis of traits, when these findings also reflect cultural homogeneity. Second, the problem of extrapolating from genetic research findings in education to policy and practice recommendations.

Identifying causal relations from correlational data is a fundamental challenge in personality psychology. In most cases, random assignment is not feasible, leaving observational studies as the primary methodological tool. Here, we document several techniques from behavior genetics that attempt to demonstrate causality. Although no one method is conclusive at ruling out all possible confounds, combining techniques can triangulate on causal relations. Behavior genetic tools leverage information gained by sampling pairs of individuals with assumed genetic and environmental relatedness or (...) by measuring genetic variants in unrelated individuals. These designs can find evidence consistent with causality, while simultaneously providing strong controls against common confounds. We conclude by discussing several potential problems that may limit the utility of these techniques when applied to personality. Ultimately, genetically informative designs can aid in drawing causal conclusions from correlational studies. (shrink)

Previous studies investigating attitudes to genetically modified (GM) foods suggest a correlation between negative attitudes and low levels of science education, both of which are associated with women. In a qualitative focus group study of Australian women with diverse levels of education, we found attitudes to GM foods were part of a complex process of making “good” food decisions, which included other factors such as locally produced, fresh/natural, healthy and nutritious, and convenient. Women involved in GM crop development (...) and those with health science training differed in how they used evidence to categorize GM foods. Our findings contribute to a deeper understanding of how GM food, and the role of science and technology in food production and consumption more broadly, is understood and discussed amongst diverse “publics” and across different “sciences,” and to research related to deepening public engagement at the intersection of science and values. (shrink)

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)‐based “active genetic” elements developed in 2015 bypassed the fundamental rules of traditional genetics. Inherited in a super‐Mendelian fashion, such selfish genetic entities offered a variety of potential applications including: gene‐drives to disseminate gene cassettes carrying desired traits throughout insect populations to control disease vectors or pest species, allelic drives biasing inheritance of preferred allelic variants, neutralizing genetic elements to delete and replace or to halt the spread of gene‐drives, split‐drives (...) with the core constituent Cas9 endonuclease and guide RNA (gRNA) components inserted at separate genomic locations to accelerate assembly of complex arrays of genetic traits or to gain genetic entry into novel organisms (vertebrates, plants, bacteria), and interhomolog based copying systems in somatic cells to develop tools for treating inherited or infectious diseases. Here, we summarize the substantial advances that have been made on all of these fronts and look forward to the next phase of this rapidly expanding and impactful field. (shrink)

The use of preimplantation genetic diagnosis (PGD) has expanded both in number and scope over the past 2 decades. Initially carried out to avoid the birth of children with severe genetic disease, PGD is now used for a variety of medical and non-medical purposes. While some human studies have concluded that PGD is safe, animal studies and a recent human study suggest that the embryo biopsy procedure may result in neurological problems for the offspring. Given that the long-term (...) safety of PGD has not been clearly established in humans, this study sought to determine how PGD safety is presented to prospective patients by means of a detailed website analysis. The websites of 262 US fertility centres performing PGD were analysed and comments about safety and risk were catalogued. Results of the analysis demonstrated that 78.2% of centre websites did not mention safety or risk of PGD at all. Of the 21.8% of centres that did contain safety or risk information about PGD, 28.1% included statements highlighting the potential risks, 38.6% presented information touting the procedure as safe and 33.3% included statements highlighting potential risks and the overall safety of the procedure. Thus, 86.6% of PGD-performing centres state that PGD is safe and/or fail to disclose any risks on their websites despite the fact that the impact of the procedure on the long-term health of offspring is unproven. This lack of disclosure suggests that informed consent is inadequate; this study examines numerous factors that are likely to inhibit comprehensive discussions of safety. (shrink)

Mutations that disrupt biological rhythms have existed in microbial and metazoan eukaryotes for some time. They have recently begun to be studied with increasing intensity, both in terms of phenotypic effects of the relevant genetic variants, and with regard to molecular isolation and analysis of the genes defined by two of the ‘clock mutations’. These genetic loci, called period (per) in Drosophila and frequency (frq) in Neurospora, influence not only the basic characteristics of circadian rhythmicity, but also (...) temperature compensation of such daily cycle durations, ‘re‐setting’ of the rhythms' phases, and (for the per mutants) behavioral oscillations associated with much shorter than circadian periodicities. Molecular cloning of Drosophila's per gene, accompanied crucially by the locus's identification in germ‐line transformants, has led to information on its expression ‐ temporally, spatially, and in regard to heterogeneity of mRNA types. Nucleotide‐sequencing analyses of genomic DNA (and/or cDNA) from normal and mutated per alleles have (1) led to the suggestion that this clock gene encodes a family of proteoglycans (which was further indicated by application of antibody reagents obtained by manipulation of one of the gene's exons); and (2) shown that the three types of per mutations ‐ which shorten or lengthen rhythm periodicities or appear to eliminate them ‐ are associated with interesting amino‐acid substitutions or a stop codon, respectively. Analogous molecular findings are awaited from Neurospora, whose frq gene has very recently been cloned and definitively identified, in part via transformation experiments. (shrink)

In neuroethology, the nervous system and behavior are analyzed in the context of the animal's natural habitat and evolutionary history. For the last 30 years the influence of genetics on neuroethology has steadily grown, particularly in Drosophila. Genetic variants reveal new properties of neurons; they help to dissect neuronal circuits and complex behavioral systems; genetics provides new methods to visualize certain brain structures and to assign behavioral functions to them; and, finally, genetic variants can be used (...) to test ecological models. While single‐gene mutations can have highly specific behavioral effects, molecular analysis of the corresponding genes reveals that the latter normally have a much broader functional scope. The ‘graininess’ of a functional model of the brain, therefore, is defined by the independent regulatory units of the genes rather than by the genes themselves. (shrink)