Can Genetics and Genomics Nursing Competencies Be Successfully Taught in a Prenursing Microbiology Course?

In recognition of the entry into the era of personalized medicine, a new set of genetics and genomics competencies for nurses was introduced in 2006. Since then, there have been a number of reports about the critical importance of these competencies for nursing practices and about the challenges of addressing these competencies in the preservice (basic science) nursing curriculum. At least one suggestion has been made to infuse genetics and genomics throughout the basic science curriculum for prenursing students. Based on this call and a review of the competencies, this study sought to assess the impact of incorporation of genetics and genomics content into a prenursing microbiology course. Broadly, two areas that address the competencies were incorporated into the course: 1) the biological basis and implications of genetic diversity and 2) the technological aspects of assessing genetic diversity in bacteria and viruses. These areas address how genetics and genomics contribute to healthcare, including diagnostics and selection of treatment. Analysis of learning gains suggests that genetics and genomics content can be learned as effectively as microbiology content in this setting. Future studies are needed to explore the most effective ways to introduce genetics and genomics technology into the prenursing curriculum.     

Expertise for Teaching Biology Situated in the Context of Genetic Testing

Contemporary genomics research will impact the daily practice of biology teachers who want to teach up-to-date genetics in secondary education. This article reports on a research project aimed at enhancing biology teachers’ expertise for teaching genetics situated in the context of genetic testing. The increasing body of scientific knowledge concerning genetic testing and the related consequences for decision-making indicate the societal relevance of an educational approach based on situated learning. What expertise do biology teachers need for teaching genetics in the personal health context of genetic testing? This article describes the required expertise by exploring the educational practice. Nine experienced teachers were interviewed about the pedagogical content, moral and interpersonal expertise areas concerning how to teach genetics in the personal health context of genetic testing, and the lessons of five of them were observed. The findings showed that the required teacher expertise encompasses specific pedagogical content expertise, interpersonal expertise and a preference for teacher roles and teaching approaches for the moral aspects of teaching in this context. A need for further development of teaching and learning activities for (reflection on) moral reasoning came to the fore. Suggestions regarding how to apply this expertise into context-based genetics education are discussed.     

对普遍语法研究的再思考

通过对乔姆斯基理论几个重大问题的综述和简评,比照脑神经科学和认知科学等方面的研究成果,探究儿童语言获得的基础和条件,对普遍语法假说中儿童语言获得的观点进行反思,可以证明普遍语法存在的可能性。通过对普遍语法研究的价值和意义进行分析,有助于深化人类对语言本质的认识,有助于从脑神经和认知科学角度探究语言事实和自然规律。     

Exploring Middle School Students’ Understanding of Three Conceptual Models in Genetics

Genetics is the cornerstone of modern biology and a critical aspect of scientific literacy. Research has shown, however, that many high school graduates lack fundamental understandings in genetics necessary to make informed decisions about issues and emerging technologies in this domain, such as genetic screening, genetically modified foods, etc. Genetic literacy entails understanding three interrelated models: a genetic model that describes patterns of genetic inheritance, a meiotic model that describes the process by which genes are segregated into sex cells, and a molecular model that describes the mechanisms that link genotypes to phenotypes within an individual. Currently, much of genetics instruction, especially in terms of the molecular model, occurs at the high school level, and we know little about the ways in which middle school students can reason about these models. Furthermore, we do not know the extent to which carefully designed instruction can help younger students develop coherent and interrelated understandings in genetics. In this paper, we discuss a research study aimed at elucidating middle school students’ abilities to reason about the three genetic models. As part of our research, we designed an eight-week inquiry unit that was implemented in a combined sixth- to eighth-grade science classroom. We describe our instructional design and report results based on an analysis of written assessments, clinical interviews, and artifacts of the unit. Our findings suggest that middle school students are able to successfully reason about all three genetic models.     

Exploring Relationships Among Belief in Genetic Determinism,Genetics Knowledge,and Social Factors

Genetic determinism can be described as the attribution of the formation of traits to genes, where genes are ascribed more causal power than what scientific consensus suggests. Belief in genetic determinism is an educational problem because it contradicts scientific knowledge, and is a societal problem because it has the potential to foster intolerant attitudes such as racism and prejudice against sexual orientation. In this article, we begin by investigating the very nature of belief in genetic determinism. Then, we investigate whether knowledge of genetics and genomics is associated with beliefs in genetic determinism. Finally, we explore the extent to which social factors such as gender, education, and religiosity are associated with genetic determinism. Methodologically, we gathered and analyzed data on beliefs in genetic determinism, knowledge of genetics and genomics, and social variables using the “Public Understanding and Attitudes towards Genetics and Genomics” (PUGGS) instrument. Our analyses of PUGGS responses from a sample of Brazilian university freshmen undergraduates indicated that (1) belief in genetic determinism was best characterized as a construct built up by two dimensions or belief systems: beliefs concerning social traits and beliefs concerning biological traits; (2) levels of belief in genetic determination of social traits were low, which contradicts prior work; (3) associations between knowledge of genetics and genomics and levels of belief in genetic determinism were low; and (4) social factors such as age and religiosity had stronger associations with beliefs in genetic determinism than knowledge. Although our study design precludes causal inferences, our results raise questions about whether enhancing genetic literacy will decrease or prevent beliefs in genetic determinism.     

From Flavr Savr Tomatoes to Stem Cell Therapy: Young People’s Understandings of Gene Technology, 15 Years on

This paper explores knowledge and understanding of basic genetics and gene technologies in school students who have been taught to a ‘science for all’ National Curriculum and compares 482 students in 1995 (gene technology was a new and rapidly developing area of science with potential to impact on everyday life; the first cohort of students had been taught to the National Curriculum for Science) with 154 students in 2011 (genomics had replaced gene technology as a rapidly developing area of science with potential to impact on everyday life; science as a core subject within the National Curriculum was well established). These studies used the same questions, with the same age group (14–16) across the same (full) ability range; in addition the 2011 sample were asked about stem cells, stem cell technology and epigenetics. Students in 2011 showed: better knowledge of basic genetics but continuing difficulty in developing coherent explanatory frameworks; a good understanding of the nature of stem cells but no understanding of the process by which such cells become specialised; better understanding of different genetic technologies but also a wider range of misunderstandings and confusions (both between different genetic technologies and with other biological processes); continuing difficulty in evaluating potential veracity of short ‘news’ items but greater awareness of ethical issues and the range of factors (including knowledge of genetics) which could be drawn on when justifying a view or coming to a decision. Implications for a ‘science for all’ curriculum are considered.     

A Knowledge Base for Teaching Biology Situated in the Context of Genetic Testing

Recent developments in the field of genomics will impact the daily practice of biology teachers who teach genetics in secondary education. This study reports on the first results of a research project aimed at enhancing biology teacher knowledge for teaching genetics in the context of genetic testing. The increasing body of scientific knowledge concerning genetic testing and the related consequences for decision-making indicate the societal relevance of such a situated learning approach. What content knowledge do biology teachers need for teaching genetics in the personal health context of genetic testing? This study describes the required content knowledge by exploring the educational practice and clinical genetic practices. Nine experienced teachers and 12 respondents representing the clinical genetic practices (clients, medical professionals, and medical ethicists) were interviewed about the biological concepts and ethical, legal, and social aspects (ELSA) of testing they considered relevant to empowering students as future health care clients. The ELSA suggested by the respondents were complemented by suggestions found in the literature on genetic counselling. The findings revealed that the required teacher knowledge consists of multiple layers that are embedded in specific genetic test situations: on the one hand, the knowledge of concepts represented by the curricular framework and some additional concepts (e.g. multifactorial and polygenic disorder) and, on the other hand, more knowledge of ELSA and generic characteristics of genetic test practice (uncertainty, complexity, probability, and morality). Suggestions regarding how to translate these characteristics, concepts, and ELSA into context-based genetics education are discussed.     

The importance of socio-cultural context for understanding students’ meaning making in the study of genetics

In this rejoinder to Ann Kindfield and Grady Venville’s comments on our article “Reconsidering conceptual change from a socio-cultural perspective: Analyzing students’ meaning making in genetics in collaborative learning activities,” we elaborate on some of the critical issues they raise. Their comments make apparent some of the crucial differences between a socio-cultural and a socio-cognitive approach towards conceptual change. We have selected some issues that are addressed, either implicitly or explicitly, in their comments. The main issues discussed are talk and interaction as data, the significance of context in interaction studies, the feasibility of generic claims in small-scale interaction studies, and the difference between studying students’ understanding of science concepts as opposed to studying the construction of meaning.

Determinism and Underdetermination in Genetics: Implications for Students’ Engagement in Argumentation and Epistemic Practices

In the last two decades science studies and science education research have shifted from an interest in products (of science or of learning), to an interest in processes and practices. The focus of this paper is on students’ engagement in epistemic practices (Kelly in Teaching scientific inquiry: Recommendations for research and implementation. Sense Publishers, Rotterdam, pp 99–117, 2008), or on their practical epistemologies (Wickman in Sci Educ 88(3):325–344, 2004). In order to support these practices in genetics classrooms we need to take into account domain-specific features of the epistemology of genetics, in particular issues about determinism and underdetermination. I suggest that certain difficulties may be related to the specific nature of causality in genetics, and in particular to the correspondence between a given set of factors and a range of potential effects, rather than a single one. The paper seeks to bring together recent developments in the epistemology of biology and of genetics, on the one hand, with science education approaches about epistemic practices, on the other. The implications of these perspectives for current challenges in learning genetics are examined, focusing on students’ engagement in epistemic practices, as argumentation, understood as using evidence to evaluate knowledge claims. Engaging in argumentation in genetics classrooms is intertwined with practices such as using genetics models to build explanations, or framing genetics issues in their social context. These challenges are illustrated with studies making part of our research program in the USC.     

Successful and unsuccessful problem solving in classical genetic pedigrees

Using the think-aloud interview technique, 16 undergraduates and 11 genetics graduate students and biology faculty members were asked to solve from 1 to 3 classical genetics problems which require pedigree analysis. Subjects were classified as either successful or unsuccessful and the performances of these groups were analyzed from videotaped recordings of the interviews. A number of previously reported findings were corroborated. Additional observations are discussed in terms of genetic knowledge, use of production rules, strategy selection, use of critical cues, hypothesis testing, use of logic, understanding of issues of probability, and the thinking process itself. Taken collectively, these findings evidence a remarkable similarity between the successful solution of pedigree problems and the processes of medical diagnosis and scientific investigation. This convergence of research findings suggests a qualitative advance in the understanding of problem solving. Based on this understanding, recommendations for classroom instruction are presented.     

Emerging issues in the genetics of dyslexia: a methodological preview

A review of the classic and recent evidence on the genetics of reading disability (RD) shows encouraging progress, and accumulating evidence of genetic risk factors that operate within families and are separately localizable to more than one chromosomal region. The accelerating pace of these findings, however, suggests the need to consider some methodological issues about the design and interpretation of current and future studies. A major issue is the shape of the distribution of reading ability in the population, and we offer three tests of increasing rigor for determining whether those distributions are categorical, and hence not suitable for analyses that depend on the assumption of a continuous normal distribution. These tests are as follows: a nonnormal preponderance of cases with RD (i.e., the hump in the lower end of the distribution); a difference in the within-group variance-covariance matrices for typical readers compared to those with RD; and a correlation between a neurogenetically relevant criterion and a categorical reading variable that is larger than the correlation between the same criterion and a continuous version of the same reading variable. We emphasize also the importance of interactive relationships between multiple genetic loci, the variations in genotypic range as well as type of affectedness, the need to account for remediation variance, and the importance of lifespan changes in the phenotypes.     

Stories of learning,identity, navigations and boundary crossings in STEM in non-dominant communities: new imaginaries for research and action

Marta Civil’s paper “STEM learning research through a funds of knowledge lens” can be read as a story about her trajectory as a researcher of everyday and school mathematics over time, grounded in sociocultural historical theory. Building on her work, I explore three issues. First, I address the grounding of STEM research in studies of learning and show what this may imply in the context of multilingualism and transculturism. Second, I explore how funds of knowledge can put into question what counts as science. Third, I discuss some of the methodological challenges the article raises. I conclude with some comments to think with for the future of the STEM field and equitable science.     

Understanding of Genetic Information in Higher Secondary Students in Northeast India and the Implications for Genetics Education

Since the work of Watson and Crick in the mid-1950s, the science of genetics has become increasingly molecular. The development of recombinant DNA technologies by the agricultural and pharmaceutical industries led to the introduction of genetically modified organisms (GMOs). By the end of the twentieth century, reports of animal cloning and recent completion of the Human Genome Project (HGP), as well techniques developed for DNA fingerprinting, gene therapy and others, raised important ethical and social issues about the applications of such technologies. For citizens to understand these issues, appropriate genetics education is needed in schools. A good foundation in genetics also requires knowledge and understanding of topics such as structure and function of cells, cell division, and reproduction. Studies at the international level report poor understanding by students of genetics and genetic technologies, with widespread misconceptions at various levels. Similar studies were nearly absent in India. In this study, I examine Indian higher secondary students' understanding of genetic information related to cells and transmission of genetic information during reproduction. Although preliminary in nature, the results provide cause for concern over the status of genetics education in India. The nature of students' conceptual understandings and possible reasons for the observed lack of understanding are discussed.     

The alignment of written peer feedback with draft problems and its impact on revision in peer assessment

Despite the wide use of peer assessment, questions about the helpfulness of peer feedback are frequently raised. In particular, it is unknown whether, how and to what extent peer feedback can help solve problems in initial texts in complex writing tasks. We investigated this research gap by focusing on the case of writing literature reviews in an academic writing course. The dataset includes two drafts from 21 students, sampled to represent a wide range of document qualities, and 84 anonymous peer reviews, involving 1,289 idea units. Our study revealed that: (1) at both substance and high prose levels, drafts of all quality levels demonstrated more common problems on advanced writing issues (e.g. counter-argument); (2) peer feedback was driven by difficulty of the problem rather than overall draft quality, peer comments were not well aligned with the relative frequency of problems, more comments were given to less difficult problems; (3) peer feedback had a moderate impact on revision, and importantly, receiving multiple comments on the same issue led to more repairs and improvement of draft quality, but consistent with the comments received, authors tended to fix basic problems more often. Implications for practice and research are drawn from these findings.     

单体型装配问题的研究现状

单核苷酸多态性（SNP）是指不同个体DNA序列上的单个碱基的差异,是人类基因组中最丰富的遗传变异。单体型是指位于一条染色体上或某一区域的一组相关联的SNP等位基因。研究表明在复杂性疾病研究方面,由多个变异位点组合构成的单体型所携带的信息比单个的SNP数据的信息更有价值,由此衍生了单体型装配问题。文章论述了SNP,单体型,基因型的定义,综述了求解单一个体单体型装配问题的主要模型及算法,同时阐述了求解群体单体型装配问题的5种方法及算法。     

A Conservative Meta-Analysis of Linkage and Linkage-Association Studies of Developmental Dyslexia

Linkage studies of complex phenotypes such as reading ability/disability (developmental dyslexia or reading disorder) and related componential processes, where the effects attributable to individual genes appear to be modest, are critically dependent on the nature and composition of the samples and the phenotypes analyzed. Thus, it might be helpful to consider the results from individual studies collectively so that summative profiles of findings can be considered. To gain an impression of how useful such an approach might be, a conservative meta-analysis based on Fisher's pooled p values approach was performed on regional linkage/association studies of developmental dyslexia and related phenotypes published through early September 2004. The obtained results rank order the findings and stress the need to contextualize the results with more regional linkage/association studies as well as with statistical simulation studies.     

A rejoinder to Jrène Rahm’s “Stories of learning,identity, navigations and boundary crossings in STEM in non-dominant communities: new imaginaries for research and action”

This article presents my rejoinder to Jrène Rahm’s response to my article “STEM learning research through a funds of knowledge lens.” I focus on four themes that emerged from my reading of her commentary: the importance of the histories of youth of immigrant origin; her comments on globality; the theoretical lens that she brings to my research; and the methodological issues she discusses. I highlight Rahm’s humanizing component and the need to understand the complexity of immigration. What are we doing in our global settings to build on the diversity of experiences and backgrounds among the youth as a resource towards STEM learning?     

精神病的分子遗传学基础

导致精神病的动因是复杂的,既有环境因素,也有复杂的遗传背景。文章综述了当前对精神病和精神障碍的分子遗传学研究成果,从染色体畸变、基因突变、遗传的异质性等方面阐明精神病发生的复杂的遗传背景和机制。     

Seymour Benzer and T4 <Emphasis Type="Italic">r</Emphasis>II

One of the goals of genetics is to understand genes in as much detail as possible. For instance, with respect to a given gene, one would like to know its chromosomal location, its physical and genetic size, its neighbours, the number of mutations/alleles defining the gene, the order of mutations, the genetic/physical distance between them, etc. Thus, rather than focusing on the whole genome, one focuses on the finer details of a given genetic segment. The exercise of probing such details is called ‘fine structure genetic analysis’. There are several pioneers who have contributed enormously to this area in many bacterial and phage systems. Two stalwarts, Seymour Benzer and Charles Yanofsky, stand preeminent among them. In the following pages I present briefly Benzer’s outstanding work on the fine structure of the rII region of bacteriopage T4. These path-breaking studies contributed significantly to our understanding of the structure, organization and function of genes. R Jayaraman is an Emeritus Professor of Molecular Biology at the School of Biological Sciences, Madurai Kamaraj University, Madurai, where he taught and carried out research in the area of microbial genetics for three decades.     

High school students' use of meiosis when solving genetics problems

Researchers have pointed out the difficulties that high school students have in understanding meiosis and the infrequency with which they acknowledge the conceptual relationships between meiosis and classical genetics, particularly when solving genetics problems. The research described in this article paints a different picture of students' reasoning with meiosis as they solved complex, computergenerated genetics problems, some of which required them to revise their understanding of meiosis in response to anomalous data. Details are presented of the ways students used their knowledge of meiosis to recognize anomalous data, to generate hypotheses as part of the revision of explanatory models, and to assess these hypotheses. The findings from this research, contrary to most reports in the literature, suggest that students are able to develop rich understanding of meiosis and can utilize that knowledge to solve genetics problems.