Download or read book Genetic Consultations in the Newborn written by Robin D. Clark and published by Oxford University Press. This book was released on 2019-01-16 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall As demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.
Download or read book Genetic Consultations in the Newborn written by Robin D. Clark and published by . This book was released on 2019 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Saving Babies written by Stefan Timmermans and published by University of Chicago Press. This book was released on 2015-05-06 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction: the consequences of newborn screening -- The expansion of newborn screening -- Patients-in-waiting -- Shifting disease ontologies -- Is my baby normal? -- The limits of prevention -- Does expanded newborn screening save lives? -- Conclusion: the future of expanded newborn screening
Download or read book Genetic Consultations in the Newborn written by Robin D. Clark and published by Oxford University Press. This book was released on 2019-01-16 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall As demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.
Download or read book Understanding Genetics written by Genetic Alliance and published by Lulu.com. This book was released on 2009 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
Download or read book Genetics Diagnosis Inborn Errors of Metabolism and Newborn Screening An Update An Issue of Clinics in Perinatology written by Michael J. Gambello and published by Elsevier Health Sciences. This book was released on 2015-08-12 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Genetic Testing of Children written by Angus Clarke and published by Garland Science. This book was released on 2020-07-26 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, written by a leading geneticist, examines the ethical and social issues raised by the genetic testing of children. The opinions of geneticists, ethicists and affected families are all included to give a balanced view of this controversial field. Issues covered include confidentiality, potential abuses of genetic information (eg the use of test results by insurance companies) and the value of predictive genetic testing. The aim of the book is to improve awareness of the complexity of the issues raised and provide suggestions as to how the discussions must develop - it therefore raises new questions as well as answering those that already exist.
Download or read book The Genetic Testing of Children written by Angus Clarke and published by . This book was released on 1994 with total page 32 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Birth of a Genetics Policy written by Dr Joëlle Vailly and published by Ashgate Publishing, Ltd.. This book was released on 2014-01-28 with total page 405 pages. Available in PDF, EPUB and Kindle. Book excerpt: Testing for genetic diseases or traits is a rapidly developing practice, the most widely used form of testing currently in use being newborn screening. Based on a five-year research project and winner of the Prix ‘Le Monde’ for academic research in France, The Birth of a Genetics Policy analyses the three dimensions - scientific, political and moral - of the social issues raised by a policy of screening for the genetic disease of cystic fibrosis amongst babies. Drawing on extensive interview material and observational research, it explores the conditions under which a screening policy is decided upon and implemented, the types of political logic underlying it, and the effects it has on norms and values. Revealing the ties that exist between forms of biomedical knowledge and political techniques, whilst showing how the notion of biomedical abnormality is being extended, this book sheds light on judgements surrounding the idea of the ‘quality (of) life’. A rigorous examination of the discourses and practices of medical genetics in the early twenty-first century, The Birth of a Genetics Policy will appeal to sociologists and anthropologists with interests in medicine and the body, evidence-based care and questions of biopolitics and governmentality.
Download or read book Comprehensive Clinical Genetic Services Centers written by and published by . This book was released on 1986 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Testing Baby written by Rachel Grob and published by Rutgers University Press. This book was released on 2011-09-01 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within forty-eight hours after birth, the heel of every baby in the United States has been pricked and the blood sent for compulsory screening to detect or rule out a large number of disorders. Newborn screening is expanding rapidly, fueled by the prospect of saving lives. Yet many lives are also changed by it in ways not yet recognized. Testing Baby is the first book to draw on parents’ experiences with newborn screening in order to examine its far-reaching sociological consequences. Rachel Grob’s cautionary tale also explores the powerful ways that parents’ narratives have shaped this emotionally charged policy arena. Newborn screening occurs almost always without parents’ consent and often without their knowledge or understanding, yet it has the power to alter such things as family dynamics at the household level, the context of parenting, the way we manage disease identity, and how parents’ interests are understood and solicited in policy debates.
Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
Download or read book Genetics for Pediatricians written by Mohnish Suri and published by Remedica. This book was released on 2005 with total page 322 pages. Available in PDF, EPUB and Kindle. Book excerpt: Annotation Pediatricians, medical geneticists, genetics counselors. Genetic testing now plays an important role in the investigation of almost every child who presents with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. In this book, coverage has been restricted to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.
Download or read book Genetics Diagnosis Inborn Errors of Metabolism and Newborn Screening written by Michael J. Gambello and published by . This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Download or read book Practical Genetics for Primary Care written by Peter W. Rose and published by . This book was released on 1999 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: There are many books about genetics, but none have addressed the specific primary care aspects of genetics. This book addresses these and covers all the issues relevant to primary care. There is a user- friendly description of molecular biology terms and techniques which many generalpractitioners have no experience of, but which is increasingly relevant in the consulting room. Other aspects particularly relevant to primary care are covered, such as the skills needed by primary care workers to undertake genetic consultations together with discussions of models of care that willbe helpful. The book covers in detail topics such as genetic mechanisms, ethics and the genetic tests available.
Download or read book Family Communication about Genetics written by Clara L. Gaff and published by Oxford University Press, USA. This book was released on 2010 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Psychology and Evidence-based Decision-making, School of Psychology, University of Sydney --
