Genetics

(This is the preprint version) This book is about disease, but disease from a very specific perspective, namely that of evolutionary medicine. However, in doing so, it explains evolutionary medicine in its current form now, criticizes it, and tries to apply it not directly on disease instances or tokens of disease, but rather the concept of disease. Doing so, the aim of this book is to ask the question; how to build a better concept of disease? The parts of the (...) answer to this question are answered in different chapters piece by piece, trying to give an account of a better concept first and giving an account of how to see the concept of disease grounded differently. This book is not about giving every possible account of disease, or even the major ones including the established or traditional concept. This book is not about providing a singular perspective on diseases in general, however it assumes a general orthodoxy of medicalized disease understanding. In this book, I will defend the thesis that, when the concept of disease is seen from perspectives provided by evolutionary biology, the ontology of disease and the surrounding perspectives shall change, leading our understandings in medicine related to concept of disease and social, action guiding concepts to shift towards a more individualized and care based understanding of medicine to overcome the epistemic injustices that are done by the orthodox understanding of disease that prevails in medicine. (shrink)

I reconstruct the relationship between the evolutionary geneticists Theodosius Dobzhansky (1900–1975) and Richard Lewontin (1929–2021). Using archival research and published texts, I show that Lewontin inherited his dissertation director’s research program as well as his “biology of democracy.” He did so in circumstances in which the molecular revolution in genetics was threatening both Dobzhansky’s science and his anti-racist social ideals. Lewontin’s sometimes rocky relationship with the person he called “my professor” sprang from his perception that Dobzhansky was not up to (...) managing the research program that Lewontin received from him. I explain how Lewontin took charge and the role his Marxist interpretive lens plays in his argument. (shrink)

At the dawn of the computational era, immunology is at a crossroads: Its efforts to frame microbial-host interactions in combative, war-related terms no longer fit the larger picture of immune protection, and its focus on antimicrobial responses barely captures the diverse functions of the immune system, from tissue maintenance to cancer surveillance to development. As the classical view of immune processes becomes increasingly complex, the problem of self, individuality, mind-body interactions, and disease causation have stimulated extensive philosophical comment. Relating these (...) disparate research topics to changing avenues of theoretical studies, philosophy of immunology helps to reframe basic conceptions of the organism from an atomistic, insular entity to one characterized by fluidity, hybridity, and porosity. In addition, highlighting the role of the observer in experimental research, this interdisciplinary field has redefined classical demarcations between science and culture while advancing our understanding of biology as a fundamentally human endeavor. (shrink)

Genetics: Medical, Theological and Ethical Aspects Tibbi, Dini ve Etik Boyutlariyla Genetik -/- Genetik bilimi biyolojinin botanik ve zooloji alanındaki uygulamalarını aşarak, sınırlarını önce antropolojiye sonra tıbba doğru hızla genişletmiştir. Öyle ki artık biyokimyadan onkolojiye kadar neredeyse tüm biyomedikal disiplinler, genetiğin kavramları, ilkeleri ve metodolojisi ile aşılanmıştır. Modern tıbbın uygulama alanında geniş bir yer tutan genetik bilimi, bir hastalığa dair risk analizi, teşhis ve tedavi seçeneklerinin belirlenmesi, prognozun değerlendirilmesi gibi klinik uygulamanın farklı evrelerinde söz sahibi olmaktadır. İçinde bulunduğumuz 21. yüzyılda (...) ise bu etkileşim eskisinden daha da güçlü hale gelerek devam etmektedir. Genetik biliminin klinikteki etkilerinin kapsamlı bir şekilde değerlendirildiği bu kitap, tüm dünyada tıbbın seyrini değiştirecek gelişmelere zemin teşkil eden genetik disiplininin olumlu ve olumsuz etkileri hakkında okuyucuya yetkili ağızlardan bilgiler taşımayı ve daha net bir fikir oluşturmayı hedeflemektedir. Kitapta dört ana bölüm bulunmaktadır. İlk bölümde doğum öncesi genetik uygulamalara, ikinci bölümde doğum sonrası (çocuk ve erişkinde) genetik testlere, üçüncü bölümde tıbbi genetiğin sıcak tartışma konusu olan Spinal Müsküler Atrofi’ye (SMA) ve dördüncü bölümde ise genetik bilgiyi felsefi bakışla ele alan makalelere yer verilmiştir. Genetiğin tıp pratiğini değiştirici ve dönüştürücü etkisine multidisipliner bir yaklaşımla ışık tutmayı amaçlayan bu eserin genetik hakkındaki Türkçe literatüre katkıda bulunmasını ümit ediyoruz. (shrink)

In the development of genetics it is possible to see definite levels of investigation. Every level has its characteristic methodology, which includes a set of methods, a subject of investigation, an evaluation, and an interpretation of the results obtained. The beginning of every level is connected with one or a group of scientists whose work and publications produce the beginning of a new level. The beginners and the levels are as follows: 1) G. Mendel, 1865, "The Cell–The Feature"; 2) T. (...) H. Morgan, 1911, "The Chromosome–The Feature"; 3) O. T. Avery et al., 1944, "The DNA Molecule–The Feature"; and 4) V. Gilbert et al., 1975–1977, "The DNA (RNA) Nucleotide Sequence–The Function." One can notice that a change of levels occurs at almost every 30-year period. We are now in the last third of the fourth level of investigation. When the new level appears, the methodological characteristics that will change the present ones will be impossi-ble to foresee. (In reference to the levels of investigation, see Problemos, Nr. 48, p. 56–66, 1995). The development of world-wide science (genetics) could be visualized graphically as a line rising upward through many years and levels. With every new discovery new data are located at the top, which prolong the line. The line of scientific development in a country, in an institute, and in a laboratory, or the line of scientific activity of a scientist will continue at the lower position, as a part of the whole; the distance between these two lines is expressed by the magnitude delta–. The small meaning of delta shows that the work, publication, or scientist is near world-wide science; the large meaning of delta shows the high extent of lagging behind present day world science. The world-wide science line is the background for scientific work evalution: the line goes through levels and at 30-year periods between the levels it goes through the methodological yearly news. If it is important to determine the delta of a work, it is necessary to compare the methodology used in this work with the methodology used according to the world line. The line of scientific activity of a person is under the influence of multiple factors. The line of the scientists at the beginning of activity (doing candidate or contemporary doctoral dissertation work) goes near and parallel to the world-wide science line. After obtaining a particular degree, a declination of the world line appears with the age and absence of renovation of methodology, if the scientist remains in the laboratory as a working person; this is the natural manner of the delta increase. If a scientist begins an administrative career, honorary titles, degrees, posts, and salaries make the declination marked. The line becomes almost horizontal and the delta increases with scientific progress. There are rare exceptions, i.e., a highly positioned scientist with a small delta. At present, the high rate delta scientist whose dissertation was made in a high-rate delta laboratory usually appears after obtaining a habilitated doctorate degree or a simple doctorate. It is very dangerous for scientific development when such a high delta habilitated doctor appears in scientific organizational institutions. (shrink)

The research program Spit For Science was launched at Virginia Commonwealth University (VCU) in 2011. Since then, more than 10,000 freshmen have been enrolled in the program, filling out extensive questionnaires about their drinking, general substance use, and related behaviors, and also contributing saliva for genotyping. The goals of the program, as initially stated by the investigators, were to find the genes underlying the heritability of alcohol use and related behaviors, and in addition to put genetic knowledge to work in (...) ways that might aid university administrators and mental health professionals in the prevention and treatment of substance abuse. We review every empirical paper involving genetic data that has emerged from the program, and reach a surprising conclusion: the study has never identified a single genetic effect of more than trivial magnitude. Although the quantitative results of the studies were reported transparently, the theoretical ramifications of the negligible results have never been acknowledged. To the contrary, most of the papers ignore the tiny effects, reaching optimistic conclusions about the prospects for future genetic explanations of alcohol use. We explore the implications of these results for the broader prospects of applied psychiatric genetics. (shrink)

The “long argument” presented in the opening chapter of On the Origin of Species develops steadily. Darwin’s comparison between variation under domestication (Chapter I) and variation under nature (Chapter II) is an argument that approximates artificial and natural selection, rendering the second more intelligible. However, questions remain about whether Darwin conceived the analogy before developing the theory of natural selection or whether its use later fulfilled a didactic strategy. Despite not being part of the book, Darwin’s theory of inheritance, Pangenesis, (...) is fundamental for understanding the chapter. Darwin himself recognised that the origin and inheritance of variation were probably the book’s most uncertain subject: “The laws that govern inheritance are quite unknown”. However, with his ancient concept of inheritance, it becomes clear that in the development of evolutionary thinking, it was the very existence of variation and not its origin that mattered. (shrink)

For human germline gene editing to be a viable technique for preventing disease, it must meet a baseline level of safety. This commentary unpacks Sahotra Sarkar’s concept of specificity outlined in Cut and Paste Genetics, which he proposes as a guide for when human germline gene editing can be performed safely. The commentary raises conceptual questions to how specificity is intended to work and raises further epistemic questions for how evidenceEvidence meets the demands of specificity.

Newman objects to human germ-line editingGerm-line editing on both philosophical and practical grounds. While the philosophical grounds are compelling, I argue that they are not sufficiently strong to exclude all germ-line editingGerm-line editing to eliminate genetic diseasesGenetic disease. However, the practical reasons he offers preclude germ-line editing except in very limited circumstances. I argue that my requirement of gene specificityGene specificity in Cut-and-Paste Genetics can address his concerns. Meanwhile Baxter argues that my criteria are so restrictive that they would exclude (...) all presently plausible candidate genes from being edited in the human germ-line editingGerm-line editing. I agree that this may be the case but that it is an acceptable policy situation because it behooves us to be very careful when editing of the human germ-line is at stake. (shrink)

In 1990 the Human Genome Project (HGP) was initiated with much fanfare as biology’s new Big Science project.

Although it has not been much noticed, reproduction is the central theme of François Jacob’s important history of biology, La logique du vivant (The Logic of Life). In a book ostensibly devoted to heredity, this molecular biologist had reproduction integrate levels of organization from organisms to molecules and play a major role in each historical transition between them, not just in the influential argument for a shift “from generation to reproduction.” Moreover, I claim, La logique was the first general history (...) of (research on) reproduction. Earlier histories had tackled only aspects of generation and reproduction; none historicized the latter. Jacob’s innovation came out of the rising prominence of reproduction in neo-Darwinist studies of populations and in his own field, the cellular genetics of bacteria and their viruses, and engagement with history and philosophy of science. The discovery of bacterial “sex” enabled microbial genetics but, ironically, led Jacob to a sexless concept of reproduction. This approach molded a history that reached across the living world but slighted sex and the complexities of reproduction in multicellular organisms. Readers can learn from its strength and limitations. (shrink)

Existing empirical research often do not explain which concepts about genetics underlie the assumption that genetic information is deemed important for donor-conceived offspring. This study focused on how donor-conceived individuals following anonymous sperm donation give meaning to and make sense of genes and genetics. Analysis is based on focus groups and interviews with adult donor-conceived offspring. Findings suggest that genes are part of their specific context of being donor-conceived but also play a role in daily life. Genes make sense on (...) an individual level and a relational level, both on parent-child as sibling-level. On an individual level they were perceived as (1) a biological starting package, (2) their own unique combination and (3) as a reference point. On a relational level, genes were seen as (1) “person-al”, (2) connecting and (3) locating individuals. This information is essential for those supporting/counseling donor conceived offspring and families as well as for policy-members. (shrink)

Forensic geneticists have attempted to make the case for continued investment in forensic genetics research, despite its seemingly consolidated evidentiary role in criminal justice, by shifting the focus to technologies that can provide intelligence. Forensic DNA phenotyping (FDP) is one such emerging set of techniques, promising to infer external appearance and ancestry of an unknown person. On this example, I consider the repertoire of anticipatory practices deployed by scientists, expanding the concept to not only focus on promissory but also include (...) epistemic and operational aspects of anticipatory work in science. I explore these practices further as part of anticipatory self-governance efforts, attending to the European forensic genetics community and its construction of FDP as a reliable and legitimate technology field for use in delivering public goods around security and justice. In this context, I consider three types of ordering devices that translate anticipatory practices into anticipatory self-governance. (shrink)

Discussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for healthcare (...) professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations. (shrink)

Genetics is increasingly defining how we understand health and disease, affecting for some, their understanding of inherited disease, and the meaning of medical genetic information. When interpretations of hereditary conditions are determined, partly, by one’s familial experience of heritable characteristics and partly by various other lived experiences, the meaning of genetics becomes highly personal. Through descriptions of stocks of knowledge, this paper describes findings from a qualitative study with a cohort of Black and Asian women with family and personal histories (...) of cancer, about their interpretations of their genetic tests. We describe their interpretations as shaped by different experiences of biomedical practice as well as familial experiences of cancer and genetic testing; and we introduce a metaphor of “moving within a landscape,” to show how those interpretations were created and influenced by various sources of knowledge and life experiences. (shrink)

We argue that Madole & Harden's distinction between shallow versus deep genetic causes can bring some clarity to causal claims arising from genome-wide association studies (GWASs). However, the authors argue that GWAS only finds shallow genetic causes, making GWAS commensurate with the environmental studies they hope to supplant. We also assess whether their distinction applies best to explanations or causes.

Philosophers now treat the relationship between Classical Mendelian Genetics and molecular biology as a paradigm of nonreduction and this example is playing an increasingly prominent role in debates about the reducibility of theories ranging from macrosocial science to folk psychology. Patricia Churchland (1986), for example, draws an analogy between the alleged elimination of the “causal mainstay” of classical genetics and her view that today’s psychological theory will be eliminated by neuroscience. Patricia Kitcher takes an autonomous rather than eliminativist view of (...) the reported nonreduction in genetics and reasons that psychology will retain a similar autonomy from lower level sciences (1980 and 1982). Although Churchland and Kitcher offer different interpretations of the apparent failure of molecular biology to reduce classical genetics, they agree that this failure will help illuminate theoretical relations between psychology and lower level sciences. The appearance of the Mendelian example along side the usual ones from physics and chemistry marks a turning point in philosophy of science. (shrink)

The study of the early manuscripts of the great authors most often becomes a process of monumentalising or (re)legitimising their work. The recent publication of two of Sartre's early manuscripts – first Empédocle (Empedocles) in 2016 and second, in 2018, his dissertation for his graduate diploma (diplôme d’études supérieures or DES), L'Image dans la vie psychologique (The Image in Psychological Life), both texts written in 1926–1927 – encourages us to propose another type of genetic reading that insists on the collective (...) conditions of the production of knowledge, including philosophical knowledge. Such a collective genetics, applied to Sartre's intellectual formation during the interwar years, allows us to highlight some of the little-known forms of Parisian intellectual societies (the activities of the International Information Group of the École Normale Supérieure, the critical logic of the psychology journals, the regular meetings of the cenacles, and the literary and philosophical research groups). It also reveals, at the same time, the original relationship between Sartre's thought and the German literature and philosophy mediated to him by Bernard Groethuysen, Stefan Zweig and Alexandre Koyré. (shrink)

Ovarian salvage from a patient with brain death is not available and will not preserve viable ova for future reproduction. Previous interest in assisted reproductive technology is only the first step in this process, which requires careful assessment of maternal risks and potential for recurrent genetic disease.

This essay highlights some special strengths of Jean Gayon’s approach to theGayon, Jeanon the history of French genetics history of French geneticsFrench geneticsbyGeneticshistory of French genetics providing a partial account of our collaboration. I begin with our first meeting and the work it initiated. I then illustrate key aspects of Jean’s approach to understanding complex histories involving conceptual conflict and conceptual change like those we encountered in our studies of theGayon, Jeanon the history of French genetics history of French geneticsFrench (...) genetics. InGeneticshistory of French genetics my view, Gayon’s great skill in teasing out conceptual connections and analyzing conceptual revisions has sharpened our thinking on topics far beyond those on which any one of us has worked on. Today, his exemplary efforts to explore an enormous range of topics in both breadth and depth provide a model of the role of a scholar, or of a historian-philosopher. (shrink)

Understanding community-level selection using Lewontin’s criteria requires both community-level inheritance and community-level heritability, and in the discipline of community and ecosystem genetics, these are often conflated. While there are existing studies that show the possibility of both, these studies impose community-level inheritance as a product of the experimental design. For this reason, these experiments provide only weak support for the existence of community-level selection in nature. By contrast, treating communities as interactors (in line with Hull’s replicator-interactor framework or Dawkins’s idea (...) of the “extended phenotype”) provides a more plausible and empirically supportable model for the role of ecological communities in the evolutionary process. (shrink)

Placebo cures. Global warming. Extraterrestrial life. Psychokinesis. In a time when scientific claims can sound as strange as science fiction--and can have a profound effect on individual life or public policy--assessing the merits of a far-out, supposedly scientific idea can be as difficult as it is urgent. Into the breach between helpless gullibility and unyielding skepticism steps physicist Robert Ehrlich, with an indispensable guide to making sense of "scientific" claims. A series of case studies of some of the most controversial (...) (and for the judging public, deeply vexing) topics in the natural and social sciences, Ehrlich's book serves as a primer for evaluating the evidence for the sort of strange-sounding ideas that can shape our lives. A much-anticipated follow-up to his popular Nine Crazy Ideas in Science, this book takes up issues close to readers' everyday reality--issues such as global warming, the dangers of cholesterol, and the effectiveness of placebos--as well as questions that resonate through (and beyond) civic life: Is intelligent design a scientific alternative to evolution? Is homosexuality primarily innate? Are people getting smarter or dumber? In each case, Ehrlich shows readers how to use the tools of science to judge the accuracy of strange ideas and the trustworthiness of ubiquitous "experts." As entertaining as it is instructive, his book will make the work of living wisely a bit easier and more reliable for scientists and nonscientists alike. (shrink)

The fact that genes and environment contribute differentially to variation in human behaviors, traits and attitudes is central to the field of behavior genetics. Perceptions about these differential contributions may affect ideas about human agency. We surveyed two independent samples (N = 301 and N = 740) to assess beliefs about free will, determinism, political orientation, and the relative contribution of genes and environment to 21 human traits. We find that lay estimates of genetic influence on these traits cluster into (...) four distinct groups, which differentially predict beliefs about human agency, political orientation, and religiosity. Despite apparent ideological associations with these beliefs, the correspondence between mean lay estimates and published heritability estimates for the surveyed traits is large (r = .77). Belief in genetic determinism emerges as a modest predictor of accuracy in these lay estimates. Additionally, educated mothers with multiple children emerge as particularly accurate in their estimates of the genetic contribution to these traits. (shrink)

More than a decade of exacting scientific research involving paleontological fragments and ancient DNA has lately produced a series of pronouncements about a purportedly novel population of archaic hominins dubbed “the Denisova.” The science involved in these matters is both technically stunning and, socially, at times a bit reckless. Here I discuss the responsibilities which scientists incur when they make inductively risky pronouncements about the different relative contributions by Denisovans to genomes of members of apparent subpopulations of current humans. This (...) science is sensational: it is science which empirically speculates, to the public delight’s and entertainment, about scintillating topics such as when humans evolved, where we came from, and who else we were having sex with during our early hominin history. An initial characterization of sensational science emerges from my discussion of the case, as well as a diagnosis of an interactive phenomenon termed amplified inductive risk. (shrink)