Kostas Kampourakis

Key challenges for next-generation pharmacogenomics

The “post‐genomic revolution” has advanced our understanding of the molecular etiology of a range of human genetic diseases, which might lead to improved disease prognosis and treatment. Over the past decade, genomics research has revealed the genomic variants underlying diseases, from single nucleotide variations to complex genome rearrangements, and/or altered gene expression patterns that lead directly to pathogenesis. These findings have enormous potential to guide physicians in their task of estimating disease risk and deciding on the most efficient and safe treatment options. More generally, genomic research could catalyze the maturation of individualized healthcare by considering each persons genomic profile alongside his or her clinical condition to personalize therapeutic interventions. These developments have been enabled by the rapid technological progress from the low‐ and medium‐throughput genetic screening methods of yesteryear to the new high‐throughput genome‐wide approaches of today, including microarray assays and next‐generation sequencing. In particular, as the costs for sequencing are steadily decreasing and the data analysis tools are constantly improving, whole‐genome sequencing is an attractive and potentially very efficient method to determine an individuals pharmacogenomic profile. In several cases, whole exome and whole‐genome re‐sequencing has helped researchers to correlate specific genomic variants with disease predisposition and other clinical features or physiological traits. However, such developments have yet to make their way into clinical practice, as various factors slow down the transition from research into patient care and public health benefits. Most notably, healthcare professionals still lack sufficient education and training to make better use of genomics services. Furthermore, patients and the general public tend to have low genetic literacy, which impairs their ability to meaningfully integrate their genomic information into their lifestyle and health decisions. Lastly, there are legislative gaps, ethical concerns and a dearth of economic studies to support the integration …

Children's Intuitive Teleology: Shifting the Focus of Evolution Education Research

Research has shown that children usually provide teleological explanations for the features of organisms and artifacts, from a very early age (3–4 years old). However, there is no consensus on whether teleological explanations are given in the same manner for non-living natural objects as well. The present study aimed to document the teleological explanations of 5- to 8-year-old children for particular features (color and shape) of organisms, artifacts and non-living natural objects. In addition, it was examined if there was any correlation between these explanations and children’s explanations for the usefulness of those features. Our results indicate a developmental shift in children’s teleological explanations, from a non-selective teleology in pre-school to a selective one in the second grade. In the latter case, children provided teleological explanations mostly for the shape of the feet of organisms and for the shape of artifacts, whereas pre-school children provided teleological explanations for non-living natural objects as well, both for the color and for the shape in all cases. Our results are not conclusive and further research is required, including a larger spectrum of students, since teleology is one of the most important conceptual obstacles in understanding evolution that persists even into adulthood. We conclude by proposing a particular research program for this purpose.

History and Philosophy of Science and the Teaching of Evolution: Students’ Conceptions and Explanations

A large body of work in science education indicates that evolution is one of the least understood and accepted scientific theories. Although scholarship from the history and philosophy of science (HPS) has shed light on many conceptual and pedagogical issues in evolution education, HPS-informed studies of evolution education are also characterized by conceptual weaknesses. In this chapter, we critically review such studies and find that some work lacks historically accurate characterizations of student ideas (preconceptions and misconceptions). In addition, although several studies in the science education literature have drawn parallels between students’ conceptual change patterns and those from the history of science (HOS), we identify several issues that complicate the characterization of student ideas as “Lamarckian” or “Darwinian.” Finally, a review of the topic of explanation illustrates how the plurality of approaches employed in evolutionary biology is not reflected in evolution education scholarship or practice. This finding is particularly concerning given the recent shift in emphasis in science education standards to teaching content through practice-based tasks (e.g., explanation and argumentation). Overall, this chapter demonstrates that while HPS is of central importance to a deep understanding of evolution education, too often its contributions are poorly realized.

Against “Genes For”: Could an Inclusive Concept of Genetic Material Effectively Replace Gene Concepts?

This chapter focuses on the interactions between developmental, evolutionary, and genetic considerations in thinking about the structure and content of the genetic material and how it is regulated, with additional attention to the role of genetics in biomedical research. We suggest an approach to teaching non-professionals about genetics by paying attention to these issues and how they have been transformed by molecular tools and doctrines. Our main aim is to debunk the intuitive and widespread notion of “genes for”. The perspective proposed in this chapter should help students engage with the issues raised by contemporary biomedicine and biotechnology. We suggest that in many contexts it is wise to replace the concept of the gene with the concept of the genetic material as a vehicle for integrating developmental, evolutionary, and genetic considerations and for understanding the importance of genetics in biomedicine and biotechnology. In doing so, questions about genes turn into questions about the genetic material, which then can become a tool for integrating knowledge of other biological sciences. This policy should enter into early teaching about genetics in high schools and colleges. In the process, one will be able to develop helpful arguments against overly-narrow versions of genetic determinism and for the importance of a broad understanding of genes and inheritance.

Biological Teleology: The Need for History

Teleology is a mode of explanation in which something is explained by appealing to a particular result or consequence that it brings about, and it has its roots in the philosophies of Plato and Aristotle. Aristotle defended a natural teleology, free of the Platonic idea that the natural world is the creation of a divine, rational being of some sort, with a plan for his creation. The philosophical debate over teleological explanation in natural science during the Scientific Revolution was primarily between those who, under Platonic influence, defended theistic, creationist teleology and those who, for a wide variety of reasons, opposed the use of any sort of teleology in natural science, while the effective scientific use of Aristotelian teleological explanation was bearing fruit in the disciplines of anatomy, physiology and medicine. This analysis leads to a crucial distinction between two types of teleological explanations: (a) teleological explanations based on design, which suggest that a feature exists for some purpose because it was intentionally designed to fulfill it, and (b) teleological explanations based on a natural process which explains a feature’s presence in a population by appealing to that feature’s beneficial consequences for an organism. In this chapter, we describe a framework that can be implemented in order to help students be able to distinguish between design-teleology and selection-teleology. In doing this, an interesting connection is revealed: two major types of explanations found in conceptual development literature, animism and creationism, are identified as different types of teleology. Implications for science education research are discussed.

Which question do polls about evolution and belief really ask, and why does it matter?

Data from studies conducted to determine acceptance rates for evolution are often misleading. The questions that are asked and compared to one another do not always give an authentic picture of respondents’ views. Quite often, polls, such as those by IPSOS, Gallup, and PEW, also run together questions asking respondents’ beliefs in concepts like God with questions asking respondents’ beliefs about concepts like evolution. The two are distinct and should not be confused. One might believe in evolution while having wrong beliefs about it, whereas someone else might decide not to believe in evolution while having accurate beliefs about it. Distinguishing between “belief in” and “belief about” might help remove an unrecognized confounding element from these studies.

The Evolutionist, the Creationist, and the ‘Unsure’: Picking-Up the Wrong Fight?

The public acceptance of evolution is under constant scrutiny. Surveys and polls regularly measure whether the public accepts evolutionist or creationist views. The differences between groups, such as people from various countries, are then explained by variations in religious views. But what is often overlooked, is that the data also show that a large proportion of the population, about one-third, is unsure what to believe. This figure generally goes unnoticed. We argue that the emphasis on religious variables obscures another, perhaps more important, variable: the conceptual understanding of evolution. This factor may help explain why so many people are unsure about evolution and offers a greater potential to increase public understanding and acceptance of the theory, perhaps with the active involvement of science educators.

Evolution Makes More Sense in the Light of Development

Abstract We highlight some important conceptual issues that biologists should take into account when teaching evolutionary biology or communicating it to the public. We first present conclusions from conceptual development research on how particular human intuitions, namely design teleology and psychological essentialism, influence the understanding of evolution. We argue that these two intuitions form important conceptual obstacles to understanding evolution that should be explicitly addressed during instruction and public communication. Given that a major issue in evolution is understanding how very different forms may share common ancestry — antievolutionists have argued that this is inconceivable — we suggest that evolutionary developmental biology (evo-devo), which provides concepts and evidence that large morphological change is possible, could be used to address the intuitions that organisms have fixed essences (psychological essentialism) and that their structure indicates some kind of intentional design (design teleology).

Teaching for genetics literacy in the post-genomic era

Abstract Research in genetics and genomics is advancing at a fast pace, and thus keeping up with the most recent findings and conclusions can be very challenging. At the same time these recent findings and conclusions have made necessary a reconceptualization of genes and heredity, both in science and in science education, beyond the mostly gene-centred view of the twentieth century. The teaching of genetics at schools should have a key role in helping students achieve genetics literacy. However, the literature on research in genetics education reports persistent difficulties and misunderstandings. We first consider the public understanding of and the attitudes towards genetics. Then, we review the most recent literature and present the most typical conceptions found among secondary students in various countries, ages and backgrounds. We argue that particular factors such as intuitive thinking, teachers, textbooks, and the media affect students’ development of erroneous or outdated ideas related to genetics. Finally, we suggest how these problems might be addressed in order for genetics teaching at the secondary level to fulfil the aim of contributing to students’ genetics literacy in the current post-genomic era.

History and Philosophy of Science and the Teaching of Macroevolution

Although macroevolution has been the subject of sustained attention in the history and philosophy of science (HPS) community, only in recent years have science educators begun to more fully engage with the topic. This chapter first explores how science educators have conceptualized macroevolution and how their perspectives align with the views from HPS. Second, it illustrates how science educators’ limited engagement with HPS scholarship on macroevolution has influenced construct delineation, measurement instrument development, and educational arguments about which aspects of macroevolution are most important for students to learn. Third, it discusses how scientific debates about the causal factors responsible for macroevolutionary patterns have been exploited by creationists and have impacted the teaching of evolution. Finally, it emphasizes that the rich perspectives that HPS has to offer on the important topic of macroevolution have yet to be integrated into science education scholarship.