Assessing Genetic Risks

Assessing Genetic Risks
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 353
Release: 1994-01-01
Genre: Medical
ISBN: 0309047986

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.

Protection of Human Genetic Information

Protection of Human Genetic Information
Author: Australia. Law Reform Commission
Publisher: Sydney : Australian Law Reform Commission
Total Pages: 441
Release: 2001
Genre: Data protection
ISBN: 9780642732118

13. Law enforcement issues

The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease
Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
Total Pages: 6338
Release: 2001
Genre: Genetic disorders
ISBN: 9780071363198

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

The Genetic Testing of Children

The Genetic Testing of Children
Author: Angus Clarke
Publisher: Garland Science
Total Pages: 390
Release: 2020-07-26
Genre: Medical
ISBN: 1000144674

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.

Retinal Degenerative Diseases

Retinal Degenerative Diseases
Author: Matthew M. LaVail
Publisher: Springer Science & Business Media
Total Pages: 867
Release: 2011-12-21
Genre: Medical
ISBN: 1461406315

This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.

Laboratory Guide to the Methods in Biochemical Genetics

Laboratory Guide to the Methods in Biochemical Genetics
Author: Nenad Blau
Publisher: Springer Science & Business Media
Total Pages: 860
Release: 2008-05-31
Genre: Medical
ISBN: 3540766987

This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.

Genetics of Movement Disorders

Genetics of Movement Disorders
Author: Stefan M. Pulst
Publisher: Elsevier
Total Pages: 585
Release: 2002-10-25
Genre: Medical
ISBN: 0080532411

Hereditary or genetic diseases featuring involuntary movements constitute a major aspect of the practice of neurology, functional neurosurgery, genetics, and many areas of basic and applied neuroscience research. Describing the current knowledge on these disorders, Genetics of Movement Disorders brings together information essential for clinicians, geneticists, and neuroscientists in one source. Utilizing a convenient and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia, and major categories of diseases grouped by gene locus. This book broadly appeals to neurologists, neuroscientists, geneticists, as well as cell and molecular biologists and hematologists. - Consistently formatted to present a clinical description of the disorder, followed by an in-depth analysis of the mutation and function of the mutated gene including cellular and animal models - Emphasizes the use of DNA tests for each respective disorder - Provides up-to-date, easily accessible information for clinicians, geneticists, and neuroscientists

Rickettsial Diseases

Rickettsial Diseases
Author: Didier Raoult
Publisher: CRC Press
Total Pages: 400
Release: 2007-04-26
Genre: Medical
ISBN: 142001997X

The only available reference to comprehensively discuss the common and unusual types of rickettsiosis in over twenty years, this book will offer the reader a full review on the bacteriology, transmission, and pathophysiology of these conditions. Written from experts in the field from Europe, USA, Africa, and Asia, specialists analyze specific patho

Brave New NHS?

Brave New NHS?
Author: Jo Lenaghan
Publisher: Institute for Public Policy Research
Total Pages: 168
Release: 1998
Genre: Medical
ISBN: 9781860300653

Direct-to-Consumer Genetic Testing

Direct-to-Consumer Genetic Testing
Author: National Research Council
Publisher: National Academies Press
Total Pages: 106
Release: 2011-01-16
Genre: Medical
ISBN: 0309162165

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.