Being At Genetic Risk

Rhetorics of choice have dominated the biosocial discourses surrounding BRCA risk for decades, telling women at genetic risk for breast and ovarian cancers that they are free to choose how (and whether) to deal with their risk. Critics argue that women at genetic risk are, in fact, not free to choose but rather are forced to make particular choices. In Being at Genetic Risk, Kelly Pender argues for a change in the conversation around genetic risk that focuses less on choice and more on care. Being at Genetic Risk offers a new set of conceptual starting points for understanding what is at stake with a BRCA diagnosis and what the focus on choice obstructs from view. Through a praxiographic reading of the medical practices associated with BRCA risk, Pender’s analysis shows that genetic risk is not just something BRCA+ women know, but also something that they do. It is through this doing that genetic cancer risk becomes a reality in their lives, one that we can explain but not one that we can explain away. Well researched and thoughtfully argued, Being at Genetic Risk will be welcomed by scholars of rhetoric and communication, particularly those who work in the rhetoric of science, technology, and medicine, as well as scholars in allied fields who study the social, ethical, and political implications of genetic medicine. Pender’s insight will also be of interest to organizations that advocate for those at genetic risk of breast and ovarian cancers.

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

After learning that she inherited a BRCA2 genetic mutation that put her at high risk for breast and ovarian cancer, Kim Horner’s doctors urged her to consider having a double mastectomy. But how do you decide whether to have a surgery to remove your breasts to reduce your risk for a disease you don’t have and may never get? Horner shares her struggle to answer that question in Probably Someday Cancer. The mother of a one-year-old boy, she wanted to do whatever would give her the best odds of being around for her son and protect her from breast cancer, which killed her grandmother and great-grandmother in their 40s. Which would give her the best chance at a long healthy life: a double mastectomy or frequent screenings to try to catch any cancer early? The answers weren’t that simple. Based on extensive research, interviews, and personal experience, Horner writes about how and why she ultimately opted for a double mastectomy—the same decision actress Angelina Jolie made for a similar genetic mutation—and the surprising diagnosis that followed. The book explores difficult truths that get overshadowed by upbeat messages about early detection and survivorship—the fact that screenings can miss cancers and that even early-stage breast cancers can spread and become fatal. Probably Someday Cancer is about the author’s efforts to push past her fear and anxiety. This book can help anyone facing hereditary risk of breast and ovarian cancer feel less alone and make informed decisions to protect their health and end the devastation that hereditary cancer has caused for generations in so many families.

With recent studies using genetic, epigenetic, and other molecular and neurochemical approaches, a new era has begun in understanding pathophysiology of suicide. Emerging evidence suggests that neurobiological factors are not only critical in providing potential risk factors but also provide a promising approach to develop more effective treatment and prevention strategies. The Neurobiological Basis of Suicide discusses the most recent findings in suicide neurobiology. Psychological, psychosocial, and cultural factors are important in determining the risk factors for suicide; however, they offer weak prediction and can be of little clinical use. Interestingly, cognitive characteristics are different among depressed suicidal and depressed nonsuicidal subjects, and could be involved in the development of suicidal behavior. The characterization of the neurobiological basis of suicide is in delineating the risk factors associated with suicide. The Neurobiological Basis of Suicide focuses on how and why these neurobiological factors are crucial in the pathogenic mechanisms of suicidal behavior and how these findings can be transformed into potential therapeutic applications.

Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.

"It will be the basic aim of this book," writes Peter J. Bridge, "to impart to the reader the fundamentals of how we start with laboratory results and end up with numbers representing genetic risks." This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and from family pedigrees. Bridge begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. A major strength of the book lies in the wealth of worked examples provided throughout the text. The disorders are selected to be widely applicable or adaptable as needed. New to this edition are sections on consanguinity, multipoint linkage analysis, nonparametric methods, homozygosity mapping, and physical mapping. Also new is a chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions, and quantification of mitochondrial mutations. From reviews of the first edition: "To use a computer package intelligently and safely, you need to have in reserve the ability to do the calculation by hand, at least approximately, so as to appreciate which factors contribute to the risk. And the current computer packages cannot cope with several factors which can crucially affect the final risk, such as germinal mosaicism or the risk of maternal cell contamination... Bridge's book is very thorough. Every combination of pedigree structure and marker data is discussed, with numerous tables showing the result of systematically varying one or more parameters." -- Journal of Medical Genetics "A useful reference book."-- American Journal of Human Genetics

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.

As the population of older Americans grows, it is becoming more racially and ethnically diverse. Differences in health by racial and ethnic status could be increasingly consequential for health policy and programs. Such differences are not simply a matter of education or ability to pay for health care. For instance, Asian Americans and Hispanics appear to be in better health, on a number of indicators, than White Americans, despite, on average, lower socioeconomic status. The reasons are complex, including possible roles for such factors as selective migration, risk behaviors, exposure to various stressors, patient attitudes, and geographic variation in health care. This volume, produced by a multidisciplinary panel, considers such possible explanations for racial and ethnic health differentials within an integrated framework. It provides a concise summary of available research and lays out a research agenda to address the many uncertainties in current knowledge. It recommends, for instance, looking at health differentials across the life course and deciphering the links between factors presumably producing differentials and biopsychosocial mechanisms that lead to impaired health.