Assessing Genetic Risks

Assessing Genetic Risks PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353

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Book Description
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.

Assessing Genetic Risks

Assessing Genetic Risks PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353

Get Book Here

Book Description
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.

Diagnostic Molecular Pathology in Practice

Diagnostic Molecular Pathology in Practice PDF Author: Iris Schrijver
Publisher: Springer Science & Business Media
ISBN: 3642196772
Category : Medical
Languages : en
Pages : 329

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Book Description
This entirely case-based book covers a broad cross-section of the practical issues frequently encountered in the day-to-day activities of a molecular genetic pathologist. The book is divided into four sections on the principal areas addressed in molecular genetic pathology (MGP): inherited diseases, hematopathology, solid tumors, and infectious diseases. The topics covered by the cases in each section include test selection, qualitative and quantitative laboratory techniques, test interpretation, prognostic and therapeutic considerations, ethical considerations, technical troubleshooting, and result reporting. This book will be ideal for trainees in MGP and clinical molecular genetics who require a practice-based preparation for board examinations. It will also be very useful for residents and fellows in medical specialties to which MGP is pertinent, and for practicing pathologists who want to learn more about the current practice of molecular diagnostics.

Cystic Fibrosis and DNA Tests

Cystic Fibrosis and DNA Tests PDF Author:
Publisher: Office of Technology Assessment
ISBN:
Category : Medical
Languages : en
Pages : 324

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Book Description


An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309453291
Category : Medical
Languages : en
Pages : 149

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Book Description
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.

Cystic fibrosis and DNA tests : implications of carrier screening.

Cystic fibrosis and DNA tests : implications of carrier screening. PDF Author:
Publisher: DIANE Publishing
ISBN: 1428921192
Category :
Languages : en
Pages : 303

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Book Description


Molecular Diagnosis of Genetic Diseases

Molecular Diagnosis of Genetic Diseases PDF Author: Rob Elles
Publisher: Springer Science & Business Media
ISBN: 1592594328
Category : Medical
Languages : en
Pages : 392

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Book Description
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease PDF Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338

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

Mackenzie's Mission

Mackenzie's Mission PDF Author: Rachael Casella
Publisher: Allen & Unwin
ISBN: 1760874396
Category : Biography & Autobiography
Languages : en
Pages : 335

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Book Description
A story of triumph over adversity, the strength that can be found in love and kindness, and the power of one couple to effect positive change in the world. 'A true love story' - Mia Freedman, founder of Mamamia Rachael and Jonathan were thrilled to welcome their baby Mackenzie into the world and to start their new lives as parents. Little did they know that in a few months they would be tested to endurance and beyond. Like many other couples starting a family, Rachael and Jonathan had no idea they were both carriers for a genetic disease, and that 1 in 20 babies are affected by genetic birth defects. Their daughter was one of those babies, and Mackenzie's Mission is Rachael's beautiful and heartwarming account of Mackenzie's life, child loss, and a journey through IVF. Determined that other couples should not go through the same heartbreak, Rachael and Jonathan are now champions for genetic testing. This is a story of triumph over adversity, the strength that can be found in kindness and the power of one couple to effect positive change in the world. 'Heartbreaking and inspiring. A must read for anyone who's lost a child, loved a child, or is desperately trying to for a child. You will cry but you will also find comfort in this incredible story.' - Erin Molan, sports presenter, Nine Network 'A book about grief and finding purpose through unimaginable loss and heartbreak. Beautiful Mackenzie will continue to have a powerful impact on this world through the work of her remarkable parents.' - Libby Trickett, Olympic swimming gold medallist and author of Beneath the Surface 'The most extraordinary story of a mother's love and her daughter's legacy.' - Marcia Leone, creator of Not So Mumsy

Contemporary Bioethics

Contemporary Bioethics PDF Author: Mohammed Ali Al-Bar
Publisher: Springer
ISBN: 3319184288
Category : Medical
Languages : en
Pages : 273

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Book Description
This book discusses the common principles of morality and ethics derived from divinely endowed intuitive reason through the creation of al-fitr' a (nature) and human intellect (al-‘aql). Biomedical topics are presented and ethical issues related to topics such as genetic testing, assisted reproduction and organ transplantation are discussed. Whereas these natural sources are God’s special gifts to human beings, God’s revelation as given to the prophets is the supernatural source of divine guidance through which human communities have been guided at all times through history. The second part of the book concentrates on the objectives of Islamic religious practice – the maqa' sid – which include: Preservation of Faith, Preservation of Life, Preservation of Mind (intellect and reason), Preservation of Progeny (al-nasl) and Preservation of Property. Lastly, the third part of the book discusses selected topical issues, including abortion, assisted reproduction devices, genetics, organ transplantation, brain death and end-of-life aspects. For each topic, the current medical evidence is followed by a detailed discussion of the ethical issues involved.

Understanding Gene Testing

Understanding Gene Testing PDF Author:
Publisher:
ISBN:
Category : Cancer
Languages : en
Pages : 42

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Book Description