Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.

Consumer genomics, encompassing both direct-to-consumer applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility-focused applications outside of traditional health care to interfacing with clinical care in nontraditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care. To explore the current landscape of consumer genomics and the implications for how genetic test information is used or may be used in research and clinical care, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted a public workshop on October 29, 2019, in Washington, DC. Discussions included such topics as the diversity of participant populations, the impact of consumer genomics on health literacy and engagement, knowledge gaps related to the use of consumer genomics in clinical care, and regulatory and health policy issues such as data privacy and security. A broad array of stakeholders took part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications, representatives from patient advocacy groups, payers, bioethicists, regulators, and policy makers. This publication summarizes the presentations and discussion of the workshop.

Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

In 2006, the auditor investigated companies selling direct-to-consumer (DTC) genetic tests and testified that these companies made medically unproven disease predictions. Experts are concerned that the test results mislead consumers. The auditor was asked to investigate DTC genetic tests currently on the market and the advertising methods used to sell these tests. Kutz purchased 10 tests each from four companies, for $299 to $999 per test. He then selected five donors and sent two DNA samples from each donor to each co.: one using factual info. about the donor and one using fictitious info., such as incorrect age and race or ethnicity. The fictitious consumers received test results that are misleading and of little or no practical use. Illus.

In 2006, the Government Accountability Office (GAO) investigated companies selling direct-to-consumer (DTC) genetic tests and testified that these companies made medically unproven disease predictions. Although new companies have since been touted as being more reputable, experts remain concerned that the test results mislead consumers. This book examines the genetic tests currently on the market; the misleading test results themselves; the deceptive marketing techniques utilized; and other questionable practices.

"Collecting a family medical history is a regular component of the nursing assessment process that often includes information on familial cancer diagnoses, and patients may fear that they or their loved ones might be at increased risk for developing cancer because of hereditary factors. Although true inherited risk for developing cancer is much less common than acquired risk for developing cancer, approximately 10% of cancer diagnoses can be attributed to inherited risk. The identification of families exhibiting hereditary cancer syndromes enables individuals at risk to engage in increased surveillance and, in some cases, risk-reducing surgery and other preventive measures, which ultimately lead to decreasing the morbidity and mortality associated with a cancer diagnosis. The role of the nurse in helping patients to understand and manage hereditary cancer risk requires specialized knowledge of genetics and genomics concepts. Understanding Genomic and Hereditary Cancer Risk: A Handbook for Oncology Nurses provides background on basic genetic and genomic concepts, particularly those related to hereditary risk for developing cancer, to aid nurses in knowing when and why to refer patients. It also provides reliable information about how and why genetic and genomic testing can both aid in treatment decisions and also guide recommendations for cancer prevention and early detection. The nurse's role in genetic testing and counseling are discussed, as are questions and answers about types of testing, including direct-to-consumer genetic testing. Following genetic testing, most genetics professionals provide detailed information about recommendations for care, including recommendations for ongoing prevention and early detection. For patients who are found to have a harmful mutation, these recommendations can be extensive and are based on the personal and family medical history, as well as the specific variant. This book provides quick overviews of many of the more common hereditary variants as well as resources for more information. This handbook provides nurses with the essentials to understand genomic and hereditary cancer risk, to assist in facilitating interprofessional care with genetics and other oncology professionals, and to provide their patients with accurate and reassuring information"--

Online genetic testing services are increasingly being offered to consumers who are becoming exposed to, and knowledgeable about, new kinds of genetic technologies, as the launch of a 23andme genetic testing product in the UK testifies. Genetic research breakthroughs, cheek swabbing forensic pathologists and celebrities discovering their ancestral roots are littered throughout the North American, European and Australasian media landscapes. Genetic testing is now capturing the attention, and imagination, of hundreds of thousands of people who can not only buy genetic tests online, but can also go online to find relatives, share their results with strangers, sign up for personal DNA-based musical scores, and take part in research. This book critically examines this market of direct-to-consumer (DTC) genetic testing from a social science perspective, asking, what happens when genetics goes online? With a focus on genetic testing for disease, the book is about the new social arrangements which emerge when a traditionally clinical practice (genetic testing) is taken into new spaces (the internet). It examines the intersections of new genetics and new media by drawing from three different fields: internet studies; the sociology of health; and science and technology studies. While there has been a surge of research activity concerning DTC genetic testing, particularly in sociology, ethics and law, this is the first scholarly monograph on the topic, and the first book which brings together the social study of genetics and the social study of digital technologies. This book thus not only offers a new overview of this field, but also offers a unique contribution by attending to the digital, and by drawing upon empirical examples from our own research of DTC genetic testing websites (using online methods) and in-depth interviews in the United Kingdom with people using healthcare services.