Cover Image: Understanding Genes

Understanding Genes

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Understanding Genes by Kostas Kampourakis sits in a sometimes-awkward position betwixt and between a popular science book and a textbook. As such, lay readers looking for simple, smooth, easy-to-follow explanations may want to look elsewhere or be prepared to struggle and/or skim. Those with some background in biology (beyond their high school/early college courses) will fare better.

The intent of the book is a caution against genetic essentialism or fatalism and against the over-simplification, over-aggrandization, and over-simplification of the role genes play in human development generally, but especially (and mostly) with regard to disease. Here’s where the betwixt and between is a bit awkward, because while those who read about genetics only via the newspaper or online/TV news might be subjected to such over-simplification, they are also the ones most likely to struggle, while people with more of a scientific background are probably well aware of Kampourakis’ concern and themselves have the more nuanced view he’d approve of. It’s also a little muddled early on due to several studies that Kampourakis notes that seem somewhat contradictory in just which viewpoint is promulgated through the media.

One of his entry points into the popular consciousness re genetics is the decision by Angelina Jolie to have a double mastectomy based on a genetic test she underwent. Kampourakis uses this as a springboard for a detailed dive into just why there “are not genes for something” (italics mine). His approach is methodical, thorough, and buttressed by a number of illustrations and sidebars that help clarify some difficult concepts as he for instance explains how one gene has multiple effects; how any process or disease has multiple genes involved; how genes are part of an ecosystem of interrelated parts such as proteins, RNA, expression, the environment; how epigenetics has complicated our view of genes’ constancy, etc. Kampourakis shows the ability to write clearly, especially so in his summaries toward the end of sections. And he can also hit on a greatly clarifying metaphor, as when he explains “difference makers” versus “causes” via a metaphor involving forest fires (dry timber, oxygen, a lit match are all causes; the match is the difference makers as the timber and oxygen are always there). A running analogy involving The Phantom of the Opera is also successful. Finally, when he steps back and takes a more general approach, as he does toward a sort of encapsulating close when he explains the pitfalls of greater genetic testing or the over-promising of gene therapy/gene editing, things become quite easy to follow.

That said, it can often get a bit thick for lay readers. Here, for instance, is one section:

The ß -thalassemia occur when there is decreased or no production of ß -globin chains and thus of HbA. This is due to mutations within, or related to the expression of, the HBB (hemoglobin subunit beta) gene on Chromosome 11 that encodes the ß -globin chains . . . On the other hand, heterozygotes (i.e. those carrying on ß -thalassemia allele) and other compound heterozygotes can have a variety of conditions . . .

Unfortunately, and this is obviously no fault of Kampourakis, the ease of reading was made more difficult by how Kindle continues to struggle with poetry and textbooks, and so formatting issues on the Kindle version, whereby sidebars and illustration explanations were not always clearly distinguished from main text, such that you might be reading along, turn the page, and begin reading something not connected to the prior sentence.

I confess there were times I’m not sure I fully got everything, but mostly I just had to work harder and concentrate more than is often the case with popular science books. I don’t therefore want to imply lay readers should skip this book, but they should be prepared to put in some effort and probably shouldn’t read it while streaming TV. Recommended with caveats.

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When I was in school, genetics was really only touched upon, with the work of Mendel making up most of the content. Even that was pretty limited in scope. These days so much more is known about genetics that I'm sure schools cover it quite differently. I approached this book with an interest in expanding my knowledge of the subject. This book starts off with a focus on genetics issues we hear about in the news, such as Angelina Jolie's decision to undergo a double mastectomy as a preventative for breast cancer for which she carries certain genes. It then goes back and gives some background on the history of the study of genetics before looking at genetics as we understand it today.

I will point out this is not a book for the layperson. It took quite a while to get through the text and I must admit to falling short on understanding on a few occasions. It's a fairly technical book and I daresay it would help to have a background in science. That said, I did get some benefit from reading it and I do have a bit of a better understanding of genetics than I did before. My biggest takeaway is that the Mendel version is way too simplistic and environment plays a large role in genetics than previously was understood.

Overall, I give this three stars. I recommend this for those with a good understanding of science. Thank you to Netgalley and Cambridge University Press for providing an advanced reader copy. This review is given voluntarily.

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Kostas Kampourakis's <I>Understanding Genes</I> is a bizarrely meandering work that is overeager to repetitively yet superficially downplay the importance of genetics, accomplishing more obfuscation than accurate description of the import of genetic science. The import being that inherited genetic variation does indeed have a prodigious impact on the diversity and fitness of organisms, and that this is the case in all environments (though variant effects may vary contextually) and for almost any phenotype.

<I>Understanding Genes</I> is part basic (though abbreviated) genetics textbook and part philosophical polemic against supposed genetic essentialism/determinism and genetic reductionism (and seemingly reductionism broadly, which is weird to criticize given that to some extent all science relies on reductionist approaches in part). Kampourakis invests little to no effort in actually identifying merchants of genetic essentialism, claiming it just is out in the ether of the public consciousness. In fact, it seems largely that Kampourakis has erected a strawman to burn down. The implied targets of his criticism have definitively more nuanced understandings of genetics, largely accounting for criticisms like his or those of his ilk like Lewontin. Plus, his complaints are basically a form of quasi-postmodern semantic nitpicking. Kampourakis decries the metaphorical language used to simplify genetics for lay audiences, arguing it compels essentialist and reductionist understandings. This may indeed occur in the minds of some untutored in or thoughtless about genetics, but of what consequence is this purported misunderstanding? In reality, these metaphors are meant to impress the importance of inheriting a genome with allelic variation, especially in the very stable environment of OECD/WEIRD societies, and the rough continuity of our genome with that of all life on earth, meaning we are often subject to the same physiological and behavioral constraints that other organisms are.

In addition to the amateurish, overfastidious genetic philosophizing (mostly about lay rhetoric on the gene concept), Kampourakis stumbles into endorsements of wacky or decidedly heterodox genetic opinions, including but not limited to denigrating the clinical value of genetic testing, muddling the value of Mendelian genetics (Mendelian variants likely affect ~7% of world population significantly), and asserting the superiority of tissue organization field theory (TOFT) over somatic mutation/cancer hallmark theory. The last endorsement seeming the wildest given that numerous clinically effective therapeutic and prognostic modalities in oncology are predicated on somatic mutation theory and regularly save lives.

Fortunately, Kampourakis is quite careful and accurate about his description of molecular genetics. Moreover, he doesn't denigrate the power of genome-wide association studies (GWAS) and polygenic risk scores (PRS), though of course avidly provides the boilerplate caveats and criticisms of the approach. However, Kampourakis's book largely ignores evolutionary theory (I know he has another book on evolution, but I'm not sanguine about its quality or the accuracy of its claims given this work) ,and how it underscores the importance of genes. I worry he avoids evolution because it allows him to avoid confronting the prodigious importance of genes (all of life is linked via the gene concept instantiated as a functional entity on the molecular substrate of polymerized nucleic acids).

Overall, as a geneticist by training, I cannot countenance a butchering of the importance and value of the gene concept or the clinical and sociocultural utility of understanding genetic variation. Yes, at this moment in time, genetic science doesn't have complete mechanisms for the generation of complex traits or the entire recapitulation of complex biological organisms, and yes, proteins, other non-gene components, randomness, and environments are critical to shaping organisms, but the predictive and clinical utility of many gene variants has already been demonstrated and progress in the field will only continue. Ultimately, this work doesn't illuminate genetic science or provide a reasonable picture of the real-world impact of the findings of genetic science. There are many superior topical alternatives to this book.

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My husband had asked what I wanted for one of my milestone birthdays. I thought for a second and told him I’d always wanted my DNA sequenced so I could find out something about my ethnic background. He purchased two kits from 23andMe, we spit into individual tubes and waited for the results. As I recall, my initial ancestry report showed that I was almost 50-50 African and European. But as more and more people have their DNA analyzed and added to the pool of information for 23andMe, my results have changed over the years as it now shows that I am 56.2% Sub-Saharan African.

With the advent of commercial direct to consumer DNA tests such as 23andMe, genes are all over the news. Whether it is an in-depth discussion of the COVID-19 vaccine or caveats about the commercial direct to consumer DNA tests, the media is there to report on it.

And therein lies the problem: many writers overly simplify complex subjects like DNA and genes as they distill it for the lay public.

In “Understanding Genes” author Kostas Kampourakis not only tackles the question of what a gene is (or isn’t) but takes the reader through a historical journey through the discovery of genetics, emphasizing how science has to modify its models and explanations as more and more is discovered, whether proved or disproved.

As a medical historian, I really enjoyed the historical journey, once again meeting the major players and learning something new. If I had any quibble with this trip through scientific progress, I wish the author had taken the reader through the terminology etymology as so much can be gained by understanding why a scientist chooses a term over another.

This is not a book for the casual reader but a reader who I believe has a solid scientific background and who is not intimidated with complex scientific theories and explanations. There are a number of illustrations and charts that help explain the concepts being presented in the book and I really welcomed them as I am a visual learner who appreciates a well-done graphic.

I think it is safe to say that the more we think we know about genes, the less we really know -- but we will get there eventually.

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This book was interesting. I appreciate that the preface ties in science fiction and how it compares to the reality of genetics as well as how the modern perceptions of genetics is not always the same as the scientific reality. It was well organized, the charts and images were well chosen and strategically placed so as to best support the text. I enjoyed how much of the history of genetics was woven through the book. The writing was quite good for a science text, the book is clear and not too heavy. At some points I lost interest but I think that is due to the nature of the topic and less the specific book.

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Any book trying to encompass the science of "genes" is difficult to materialize. I picked up this choice because I wanted to be updated on the latest findings in general molecular biology and genomics. The book feels like a dry genetics textbook but we already have several of those and far more interesting in delivery and interface. The idea of "genes" in popular culture is the first chapter targeted at the common reader but the reader fails to be engaged after that. Genes depicted in movies and literature might generate an interest when the reader begins the book but it is not enough. Very few illustrations are one of the reasons. Secondly, this has a thin bibliography at the end of the book. Such books have references at the end of every chapter which make them more approachable. In need of fun introductory books about genes? Pick up Color Atlas of Genetics, Hartl, or Pierce textbooks.

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This could be the very worst book that I have had to endure! The "H" in Kostas Kampourakis stands for scientific "honesty". This book is one distortion of the truth after another. Even worse, the author will bore you to death with his digressions about "The Phantom of the Opera", a door with eight panes of glass that slams shut and only one pane breaks and origami. This book is almost all claptrap and far less science than there should be.

Prof. Kampourakis' greatest fault is his misconstruing of essentialism, determinism, and reductionism as "genetic fatalism". In 2015 Polderman et al completed a Meta-Analysis that was published in the highly regarded journal, Nature Genetics that examined the heritability of human traits based on fifty years of twin studies. Polderman et al examined all of the twin studies from 1958 through 2012 (numbering 2,748 separate research projects that looked at 14,558,903 twin pairs, as well as 17,804 human traits). Polderman and her co-investigators found that the “…observed pattern of twin correlations is consistent with a simple and parsimonious underlying model of the absence of environmental effects shared by twin pairs and the presence of genetic effects that are entirely due to additive genetic variation.”

Apparently, Prof. Kampourakis is not fully up to date with the latest scientific research or he is instead consciously fighting a rearguard action in an effort to revive the environmentalist viewpoint that is no longer credible. In the nature/nurture battle nature has prevailed and "shared" environment plays almost no role in the development of complex human traits and while "non-shared" environment has an impact but it is idiosyncratic and random thereby making efforts at average group amelioration virtually impossible as clearly demonstrated by the last 70 years of only failed attempts.

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