DNA ancestry companies generate revenues in the region of $1bn a year, and the company 23andMe is said to have sold 10 million DNA ancestry kits to date. Although evidently popular, the science behind how DNA ancestry tests work is mystifying and difficult for the general public to interpret and understand. In this accessible and engaging book, Sheldon Krimsky, a leading researcher, investigates the methods that different companies use for DNA ancestry testing. He also discusses what the tests are used for, from their application in criminal investigations to discovering missing relatives. With a lack of transparency from companies in sharing their data, absent validation of methods by independent scientists, and currently no agreed-upon standards of accuracy, Understanding DNA Ancestry also examines the ethical issues behind genetic genealogy testing, including concerns surrounding data privacy and security. It demystifies the art and science of DNA ancestry testing for the general reader.
2. The business of DNA ancestry
3. Geographical origins and movements of early human populations
4. The science behind DNA ancestry testing
5. Ancestry informative markers
6. Ancestry DNA population reference panels
7. Comparing a donor's DNA to reference panel populations
8. Probing your DNA
9. Forensic applications of ancestry DNA results
10. Privacy, personal identity and legal issues
11. Discovering unknown, missing or mistaken relatives
12. Accuracy, consistency and validation of DNA ancestry tests
Sheldon Krimsky is Lenore Stern Professor of Humanities and Social Sciences and Adjunct Professor of Public Health and Community Medicine at Tufts University, Massachusetts, USA. His research has focused on the linkages between science/technology, ethics/values and public policy. His areas of specialization include biomedical sciences, bioethics, science and technology studies, risk assessment and communication, social history of science, and environmental health. He is the author of over 200 articles and reviews, and author, co-author or editor of 16 books.
"Sheldon's book represents a much needed historical, technical, and ethical treatment of this rapidly evolving and growing industry. It tackles a complex topic that many are fascinated by but few have the educational background to appreciate un-shepherded fully, and does so in a way that is accessible and easy to internalize by the very lay readers who have literally built the entire industry with their demand. His book is not only timely, but way, way overdue [...] this book is in my view instrumental for anyone considering a genetic ancestry test. If you are a lay consumer of genetic ancestry testing products, it has my highest recommendation for you."
– Tony N. Frudakis, Ph.D., Forensic Scientist, Albuquerque Police Department DNA Laboratory, and Founder DNAPrint Genomics, Inc. (1999)
"This book has it all – science and technology, history, ethics, law, and interesting stories of genealogy. It is classic Krimsky – a truly scholarly endeavor made incredibly approachable. Krimsky goes into sufficient depth to empower the reader with the background necessary to appreciate and understand DNA ancestry fully. The book is comprehensive, describing the key discoveries leading to the modern science of ancestry, including the history and development of the multiple generations of technologies used to achieve the resolution of understanding we have today. Applications of the technology's uses and misuses are covered, as well as privacy and ethical considerations. Krimsky is a terrific storyteller of individual cases, where people found out they weren't who they thought they were. He remains in the background throughout as a balanced and unbiased observer. A most interesting and timely book that will inform, entertain, and empower the millions who have had or are considering a consumer DNA test."
– David R. Walt, Harvard Medical School
"How do private companies, like Ancestry.com and 23&me, use DNA to determine your ancestry? How does this differ from forensic DNA used by police and the FBI? And should we be worried about some or all of this? In this compelling book, Sheldon Krimsky provides clear, informative, and nuanced answers to all these questions and more."
– Naomi Oreskes, Henry Charles Lea Professor of the History of Science and Affiliated Professor of Earth and Planetary Sciences, Harvard University
"Understanding DNA Ancestry introduces readers to the vast panoply of complications that can face those who are interested in the sources of their ancestors. Such readers may be surprised that results from different genetic ancestry companies can vary in their conclusions about the results. Test-takers may sometimes confront unexpected surprises that they had never known about co-existing family members, or discover that an assumed relationship may not be genetically based. They will also learn that some ancestry companies help the FBI in identifying criminals using those companies' DNA sequencing collections. Furthermore, eager readers may realize that they are learning more than they knew about genetics. Entering these new studies raises questions about whether supposed classical races of peoples have a genetic basis at all. Professor Krimsky has a long career in preparing detailed collections that have been important to science."
– Jonathan Beckwith, geneticist and Professor Emeritus, Harvard Medical School, Department of Microbiology
"In the last three years, there has been a sharp surge in genetic ancestry testing, not only in the US, but across the globe. There are now more than seventy companies promoting an array of such offerings, which range from recreational to medical to forensic uses and claims. Sheldon Krimsky has provided an illuminating social history of these developments, with lucid prose that explains the uses and limits of such testing. But caveat emptor: many consumers will be dismayed to learn that the seductive lure and broad claims commonly outstrip the capacity of these tests to provide clear and replicable results."
– Troy Duster, Chancellor's Professor Emeritus, University of California, Berkeley
"Sheldon Krimsky has written an illuminating description in amazingly simple language on a most difficult but essential subject – ancestry. Krimsky's explanations of how DNA ancestry works and what it means for modern society are essential contributions to how we, as humans, understand our own variation. Understanding these important aspects of our variation is critical to our worldview and the place of our species in the modern world."
– Robert DeSalle, American Museum of Natural History, New York
"Understanding Genes is an essential guide to this important, complex, and sometimes incendiary topic. In his clear and balanced discussion, Kostas Kampourakis cuts through all the hype and misconception that often surround the debate about what genes are and what they do, and provides the most honest and careful discussion I have seen of how DNA participates in the processes that support life. In doing so, he reveals the real promise, limitations, and dilemmas of the current age of genomics."
– Philip Ball, science writer and author of How to Grow a Human
"Did you know that two blue-eyed people can have a brown-eyed child? Why calico cats are (almost) always female? It's in the genes, but it's not all in the genes. Kampourakis shows that, while genes are unquestionably important, fears of 'designer babies' are both overblown and misguided. Genes alone do not make you who you are. They are not the ultimate essence of life. Understanding Genes is simply the best book out there for students or anyone wanting a smart, thoughtful introduction to what genes are and do – and what they aren't and don't."
– Nathaniel Comfort, Professor, Department of the History of Medicine, Johns Hopkins University
"[...] provides a plain, rich, and direct narrative of what a gene is and is not, with practical examples of how genes relate to our daily life [...] clearly identifies controversial views in [the] fields of genetics, genomics, cell and organismic biology, and clarifies them for the comprehension of the just initiated as well as the experienced reader."
– Carlos Sonnenschein, MD, Tufts University School of Medicine, Boston, MA, USA, and Centre Cavailles, École Normale Supérieure, Paris, France
"Understanding Genes is a remarkably clear, rigorous, and yet accessible review of the biological and social roles of genes. Building on a wide range of sources including history, biology, philosophy, and social studies, the book identifies a variety of gene concepts currently in use, illustrates their significance through a wealth of concrete examples, and discusses the relations between these different ways of understanding genes. By deftly combining conceptual analysis with empirical evidence, the book succeeds in comprehensively introducing this complex subject without oversimplifying. It is highly recommended to readers venturing in this domain for the first time, as well as to experts wishing to expand their perspective."
– Sabina Leonelli, University of Exeter, UK
"Genes – many people use the word, few understand its many meanings and how they changed over time: from tools to think with, to tools to trace ancestors with. This book guides the reader through the many transformations of this concept from conception to misconceptions, from Mendel to the media. We learn about genetics, genomics, and post-genomics, but also about the interactions between scientific and public understandings and the role of metaphor in spicing things up. Readers come to realize that genes are neither essences, nor things, nor actors; genes only work in context, and in collaboration with each other within an interactive genome. This makes it difficult to find easy solutions to medical problems, but it also means that genes don't determine who we are. This book is more than a guide to understanding genes; it is essential reading for everyone interested in the role that genes play in science and culture."
– Brigitte Nerlich, University of Nottingham, UK
"In rigorous but uncomplicated prose, Kostas Kampourakis gives us a present we wish we could have received 100 years ago: a clear explanation of what genes do, what they do not do, what they are, and what they are not. In doing so, he teaches us salutary lessons in both the history and philosophy of science and in human psychology. At a time when our ability to manipulate nature is reaching new levels, Kampourakis provides a road map for understanding the relevance of genetics to our lives. This is a book everyone should read."
– Oren Harman, Senior Research Fellow at the Van Leer Jerusalem Institute and Chair of the Graduate Program in Science, Technology and Society, Bar Ilan University, and author of The Man Who Invented the Chromosome, The Price of Altruism, and Evolutions: Fifteen Myths that Explain Our World
"If you are looking for a concise and up-to-date book on the role of genes (and the science of genes) in our society, look no further: Understanding Genes is an accessible, yet nuanced, account of how the concept of the gene has developed throughout history, how its cultural and social meanings have changed, and how genetic factors influence the expression of human behavior and diseases. It conveys not only the basics of genetic thinking, but also a sense for how our understanding of what genes are, and what they do, is always also a response to the big questions that society asks at any given time. I highly recommend this beautifully written book to students, journalists, researchers from other disciplines, and in fact anyone seeking to understand the role of genes – and of genetics – in our world."
– Barbara Prainsack, University of Vienna, Austria
"In Understanding Genes, Kostas Kampourakis draws on history and popular culture as well as the latest scientific research to help the beginning reader to grasp what genes are, why they are important, and how to give that importance its due without hype or hysteria. Anyone looking for an introduction to genetics that is both reliable and readable need look no further."
– Gregory Radick, University of Leeds, UK
"This excellent book is comprehensive, detailed, and amazingly informative, yet eminently readable; it's a really lovely synthesis of the past half-century of thought about what genes are, what genes do, and why they – along with their contexts – are so extremely important. Kampourakis presents biological facts with a "systems" perspective that remains unwaveringly attentive to the fact that genetic information is always embedded in a context, a context that renders developmental outcomes unpredictable from DNA sequence information alone. By deploying wonderful new metaphors and unpacking older and potentially misleading metaphors, he helps readers avoid many of the misunderstandings that arise from various sources. Accurate and poised at the cutting edge, Understanding Genes is lucid enough to be accessible for the general public and students learning about genetics for the first time, but erudite enough for scientists interested in what we currently know about genes."
– David S. Moore