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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.
Preconception Genetic Testing: Understanding Your Risks Are you considering starting a family? Do you want to ensure the health and well-being of your future children? Preconception genetic testing is a crucial step in understanding your risks and making informed decisions. In this short read book, we will guide you through the world of preconception genetic testing, providing you with the knowledge and resources you need to make the best choices for your family's future. Table of Contents: 1. What is Preconception Genetic Testing? Before embarking on your journey to parenthood, it is essential to understand what preconception genetic testing entails. We will explain the science behind it and how it can help you identify potential genetic risks. 2. Benefits of Preconception Genetic Testing Discover the numerous advantages of undergoing preconception genetic testing. From early detection of genetic disorders to personalized reproductive options, this chapter will highlight the benefits that can significantly impact your family planning decisions. 3. Identifying Carrier Status Learn about carrier status and how it can affect your chances of passing on genetic conditions to your children. We will delve into the importance of understanding your carrier status and the implications it may have on your family's health. 4. Assessing Risk Factors Explore the various risk factors that can influence the likelihood of having a child with a genetic disorder. By understanding these factors, you can make informed decisions about your reproductive options and take necessary precautions. 5. Reproductive Options Discover the range of reproductive options available to couples who have undergone preconception genetic testing. From assisted reproductive technologies to prenatal diagnosis, this chapter will provide you with valuable insights into the choices you have. 6. Emotional and Ethical Considerations Undergoing preconception genetic testing can be an emotional journey. We will discuss the psychological and ethical considerations that may arise during this process, helping you navigate the complex emotions and make decisions aligned with your values. 7. Cost and Accessibility Learn about the cost and accessibility of preconception genetic testing. We will provide you with information on insurance coverage, financial assistance programs, and the availability of testing facilities to ensure you can access the services you need. 8. Future Developments Stay up-to-date with the latest advancements in preconception genetic testing. This chapter will explore emerging technologies and research that may revolutionize the field, offering even more options and insights for prospective parents. 9. Considerations for LGBTQ+ Couples Discover the unique considerations and challenges faced by LGBTQ This title is a short read. A Short Read is a type of book that is designed to be read in one quick sitting. These no fluff books are perfect for people who want an overview about a subject in a short period of time. Table of Contents Preconception Genetic Testing: Understanding Your Risks What is Preconception Genetic Testing? Benefits of Preconception Genetic Testing Identifying Carrier Status Assessing Risk Factors Reproductive Options Emotional and Ethical Considerations Cost and Accessibility Future Developments Considerations for LGBTQ+ Couples Resources and Support Conclusion Frequently Asked Questions Have Questions / Comments?
This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. - Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. - Contains a chapter on fetal treatment of genetic disorders. - Consolidates today's available information and experience in this important area into one convenient resource.
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.
This report gives a simplified description of the scientific fundamentals of genetic testing and describes its present applications; establishes broad privacy principles to guide both the public and private sectors on testing matters; examines specifically how the Privacy Act regulates genetic testing by government institutions; and addresses the growing need to consider regulating private sector genetic testing. A summary of positions taken by other countries and international organizations on privacy and genetic testing is also included.
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As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care—it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities. In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.