Myriad Counsyl

Myriad Counsyl: A Comprehensive Guide to Genetic Testing and Family Planning

Introduction:

Are you considering genetic testing for yourself or your family? The sheer number of options available can feel overwhelming. Myriad Counsyl, a prominent name in the field of genetic screening, offers a range of tests designed to provide insights into your reproductive health and the health of your future children. This comprehensive guide will delve into Myriad Counsyl's services, benefits, limitations, and costs, empowering you to make informed decisions about your genetic health journey. We'll explore the various tests offered, who should consider them, the interpretation of results, and potential next steps. This in-depth look at Myriad Counsyl will serve as your complete resource for navigating this important area of healthcare.


What is Myriad Counsyl?

Myriad Counsyl is a leading provider of genetic testing services, focusing primarily on carrier screening, non-invasive prenatal testing (NIPT), and newborn screening. They leverage cutting-edge technology to analyze DNA and provide individuals and couples with vital information about their genetic predispositions and potential risks associated with inherited conditions. Unlike some other providers, Myriad Counsyl is known for its focus on clinical interpretation and genetic counseling support, a crucial element in understanding the often complex results. Their tests aim to empower individuals and families to make informed decisions about family planning, reproductive health, and proactive health management.

Understanding Myriad Counsyl's Key Test Offerings:

Carrier Screening: This test identifies individuals who carry recessive genes for specific inherited conditions. While carriers may not exhibit symptoms themselves, they can pass these genes onto their children, potentially leading to a child inheriting the condition. Myriad Counsyl's carrier screening panels are comprehensive, covering a wide range of conditions. Understanding carrier status is crucial for informed family planning decisions.

Non-Invasive Prenatal Testing (NIPT): This revolutionary prenatal screening test analyzes cell-free DNA (cfDNA) from the mother's blood to assess the risk of common chromosomal abnormalities in the developing fetus, such as Down syndrome, trisomy 18, and trisomy 13. NIPT is a safer alternative to traditional invasive procedures like amniocentesis and chorionic villus sampling (CVS). It provides a higher level of accuracy and significantly reduces the risk of miscarriage.

Newborn Screening: Myriad Counsyl offers expanded newborn screening options that go beyond standard state-mandated tests. These tests can identify a wider range of genetic conditions early in a baby's life, allowing for early intervention and management strategies. Early detection is vital in minimizing the long-term impact of these conditions.

Who Should Consider Myriad Counsyl Testing?

Myriad Counsyl's tests are beneficial for a range of individuals and couples:

Couples planning a pregnancy: Carrier screening can help identify potential risks before conception, allowing for informed family planning choices.
Pregnant women: NIPT can provide peace of mind and early detection of potential chromosomal abnormalities.
Individuals with a family history of genetic conditions: Testing can provide insight into potential risks and aid in proactive healthcare management.
New parents: Expanded newborn screening can ensure early detection and intervention for a wider range of genetic conditions.

Interpreting Myriad Counsyl Results:

Myriad Counsyl's commitment extends beyond simply providing test results. They offer genetic counseling support to help individuals understand the implications of their results and make informed decisions. Genetic counselors provide personalized explanations of complex genetic information, addressing any concerns and guiding individuals through the next steps. This crucial aspect of their service is invaluable in ensuring that test results are properly understood and utilized.


Cost and Insurance Coverage:

The cost of Myriad Counsyl's tests varies depending on the specific test ordered and individual insurance coverage. Many insurance plans cover a portion or all of the cost of these tests, particularly for individuals with a family history of genetic conditions or those undergoing prenatal care. It's essential to contact your insurance provider to determine your coverage and potential out-of-pocket expenses. Myriad Counsyl's website often provides cost estimates for various tests.

Limitations and Considerations:

While Myriad Counsyl's tests are highly accurate, it's crucial to understand their limitations:

Not all conditions are screened: Carrier screening panels typically cover a range of conditions but not all possible genetic disorders.
False positives and negatives: Like any medical test, there's a small possibility of false positive or negative results.
Ethical considerations: Genetic information can raise ethical and personal considerations. It's important to discuss these with your healthcare provider and genetic counselor.


Myriad Counsyl: A Detailed Outline

I. Introduction: Overview of Myriad Counsyl and the scope of the article.
II. Myriad Counsyl's Services: Detailed explanation of carrier screening, NIPT, and newborn screening.
III. Target Audience: Identifying individuals and couples who should consider these tests.
IV. Result Interpretation and Genetic Counseling: Emphasizing the importance of professional guidance.
V. Cost and Insurance Coverage: Discussing financial aspects and insurance implications.
VI. Limitations and Ethical Considerations: Addressing potential drawbacks and ethical dilemmas.
VII. Conclusion: Summarizing key takeaways and emphasizing informed decision-making.


(Detailed explanation of each point above is provided in the preceding sections of this article.)


Frequently Asked Questions (FAQs):

1. What is the difference between carrier screening and prenatal testing? Carrier screening identifies if you carry a gene for a recessive disorder; prenatal testing screens for chromosomal abnormalities in a fetus.

2. Is Myriad Counsyl testing covered by insurance? Coverage varies by plan; check with your insurance provider.

3. How accurate are Myriad Counsyl's tests? Accuracy rates are high, but no test is 100% accurate.

4. How long does it take to get results from Myriad Counsyl? Turnaround times vary by test; check their website for estimates.

5. What if I receive a positive result from a carrier screening? Genetic counseling is provided to help interpret results and make informed decisions.

6. Is Myriad Counsyl testing painful? NIPT is a simple blood draw; other tests vary.

7. Can I choose which conditions are screened for in carrier testing? Some tests offer customizable panels, but others are standardized.

8. What are the ethical implications of genetic testing? Considerations include privacy, potential discrimination, and family dynamics.

9. Where can I find more information about Myriad Counsyl's services? Visit their official website.


Related Articles:

1. Genetic Counseling: Your Guide to Understanding Your Genetic Risks: Explores the role of genetic counseling in navigating genetic test results.

2. Understanding Carrier Screening: A Comprehensive Overview: Delves deeper into the science and implications of carrier screening.

3. Non-Invasive Prenatal Testing (NIPT): A Guide for Expectant Parents: Provides a detailed explanation of NIPT and its benefits.

4. Newborn Screening: Protecting Your Baby's Health: Explains the importance of newborn screening and available options.

5. Inherited Genetic Disorders: A Parent's Guide to Common Conditions: Provides an overview of common inherited disorders.

6. Navigating the Ethical Dilemmas of Genetic Testing: Explores the ethical considerations surrounding genetic information.

7. Choosing the Right Genetic Testing Provider: Provides guidance on choosing a reputable genetic testing service.

8. Genetic Testing and Family Planning: Making Informed Decisions: Focuses on the role of genetic testing in reproductive health.

9. The Future of Genetic Testing: Emerging Technologies and Advancements: Discusses future trends and advancements in genetic testing technology.


  myriad counsyl: Genetic Transparency? Ethical and Social Implications of Next Generation Human Genomics and Genetic Medicine Malte Dreyer, Jeanette Erdmann, Christoph Rehmann-Sutter, 2016-01-12 Genetic Transparency? tackles the question of who has, or should have access to personal genomic information. Genomic science is revolutionary in how it changes the way we live, individually and together, and how it changes the shape of society. If this is so, then – the authors of this volume claim – the rules that regulate genetic transparency should be debated carefully, openly and critically. It is important to see that the social and cultural meanings of DNA and genetic sequences are much richer than can be accounted for by purely biomedical knowledge. In this book, an international group of leading genomics experts and scholars from the humanities and social sciences discuss how the new accessibility of genomic information affects interpersonal relationships, our self-understandings, ethics, law, and healthcare systems. Contributors are: Kirsten Brukamp, Gabrielle Christenhusz, Lorraine Cowley, Malte Dreyer, Jeanette Erdmann, Andrei Famenka, Teresa Finlay, Caroline Fündling, Shannon Gibson, Cathy Herbrand, Angeliki Kerasidou, Lene Koch, Fruzsina Molnár-Gábor, Tim Ohnhäuser, Christoph Rehmann-Sutter, Benedikt Reiz, Vasilja Rolfes, Sara Tocchetti
  myriad counsyl: The Carriers Anne Skomorowsky, 2022-05-03 A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.
  myriad counsyl: Mobilizing Mutations Daniel Navon, 2019-09-20 With every passing year, more and more people learn that they or their young or unborn child carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification. Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people’s lives. Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.
  myriad counsyl: Genetics For Dummies Tara Rodden Robinson, Lisa Spock, 2020-01-02 Your no-nonsense guide to genetics With rapid advances in genomic technologies, genetic testing has become a key part of both clinical practice and research. Scientists are constantly discovering more about how genetics plays a role in health and disease, and healthcare providers are using this information to more accurately identify their patients' particular medical needs. Genetic information is also increasingly being used for a wide range of non-clinical purposes, such as exploring one's ancestry. This new edition of Genetics For Dummies serves as a perfect course supplement for students pursuing degrees in the sciences. It also provides science-lovers of all skill levels with easy-to-follow and easy-to-understand information about this exciting and constantly evolving field. This edition includes recent developments and applications in the field of genetics, such as: Whole-genome and whole-exome sequencing Precision medicine and pharmacogenetics Direct-to-consumer genetic testing for health risks Ancestry testing Featuring information on some of the hottest topics in genetics right now, this book makes it easier than ever to wrap your head around this fascinating subject.
  myriad counsyl: Precision Molecular Pathology of Breast Cancer Ashraf Khan, Ian O. Ellis, Andrew M. Hanby, Ediz F. Cosar, Emad A. Rakha, Dina Kandil, 2015-08-12 This volume provides a comprehensive review of the molecular mechanisms involved in precancerous lesions and benign and malignant breast tumors. Given the complex molecular pathways in breast cancer biology, the book simplifies these complex mechanisms and highlights the practical issues important for daily practice. Sections are structured to review breast carcinogenesis and the role of familial predisposition and stem cells in initiation and progression of breast cancer. In-depth chapters present morphologic and molecular correlations in precancerous and malignant breast lesions, while outlining highly practical issues that are in practice today in breast pathology, such as evaluation of estrogen, progesterone receptors, and HER-2. Written by experts in the field, Precision Molecular Pathology of Breast Cancer is a valuable resource that covers the current practice of breast pathology and looks into the future with an emphasis on the molecular basis of breast cancer.
  myriad counsyl: Genetics For Dummies Rene Fester Kratz, Lisa Spock, 2023-12-27 Evolve your knowledge of the fast-moving world of genetic research Genetics For Dummies shines a light on the fascinating field of genetics, helping you gain a greater understanding of how genetics factors into everyday life. Perfect as a supplement to a genetics course or as an intro for the curious, this book is packed with easy-to-understand explanations of the key concepts, including an overview of cell biology. You’ll also find tons of coverage of recent discoveries in the field, plus info on how genetics can affect your health and wellbeing. Whole-genome sequencing, genetic disease treatments, exploring your ancestry, non-invasive prenatal testing—it’s all here, in the friendly and relatable Dummies style you love. Grasp the basics of cell biology and get a primer on the field of genetic research Discover what you can learn about yourself, thanks to advances in genetic testing Learn how your genes influence your health and wellbeing, today and as you age Follow along with your college-level genetics course—or refresh your knowledge—with clear explanations of complex ideas Genetics For Dummies is great for students of the biological sciences, and for the genetically curious everywhere.
  myriad counsyl: Post-COVID-19 Perspectives on International Business Jessica Lichy, 2021-05-07 This volume provides an outline of the changing landscape of international business and consumer behaviour, in the light of ongoing disruption caused by the COVID-19 pandemic. It highlights a number of key factors that have shaped (and continue to shape) the business world and society as a whole. Its focus is on identifying and explaining emerging trends in the field of business management and consumer behaviour, paying attention to the influence of context (both cultural context and corporate context) and generational belonging. This knowledge is needed for a better understanding of the changing world, and for developing digital products and services that meet the evolving needs of individuals and businesses.
  myriad counsyl: AACR 2017 Proceedings: Abstracts 3063-5947 American Association for Cancer Research, 2017-03-13
  myriad counsyl: Tabula Raza Duana Fullwiley, 2024-04-23 Duana Fullwiley has penned an intimate chronicle of laboratory life in the genomic age. She presents many of the influential scientists at the forefront of genetics who have redefined how we practice medicine and law and understand ancestry in an era of big data and waning privacy. Exceedingly relatable and human, the scientists in these pages often struggle for visibility, teeter on the tightrope of inclusion, and work tirelessly to imprint the future. As they actively imagine a more equal and just world, they often find themselves ensnared in reproducing timeworn conceits of race and racism that can seed the same health disparities they hope to resolve. Nothing dynamic can live for long as a blank slate, an innocent tabula rasa. But how the blank slate of the once-raceless human genome became one of racial differences, in various forms of what Fullwiley calls the tabula raza, has a very specific and familiar history—one that has cycled through the ages in unexpected ways.
  myriad counsyl: Hereditary Breast and Ovarian Cancer Seigo Nakamura, Daisuke Aoki, Yoshio Miki, 2021-10-20 This highly informative and clearly written book presents the basic science and the latest data on hereditary breast and ovarian cancer (HBOC) to provide an up-to-date and holistic overview of the disease. It starts off by presenting the molecular mechanisms, genetic testing and counseling, and variants of unknown significance (VUS) to help readers understand the contemporary interpretation of the disease. Further chapters focus on the surveillance, diagnosis and treatment, including chemoprevention, risk reduction and drug development based on molecular mechanisms. It also includes a chapter on the latest findings from the HBOC database, ethical issues and the parp inhibitors, and discusses innovative thinking to manage and understand the disease. Hereditary Breast and Ovarian Cancer - Molecular Mechanism and Clinical Practice offers breast surgeons, medical oncologists, gynecological oncologists and genetic counselors a comprehensive overview of the disease. Providing insights into recent scientific findings and further avenues for investigation, it is also a thought-provoking and informative read for researchers and scholars.
  myriad counsyl: The Trust Revolution M.Todd Henderson, Salen Churi, 2019-08-15 Traces the history of innovation and trust, demonstrating how the Internet offers new ways to rehabilitate and strengthen trust.
  myriad counsyl: Obstetric Evidence Based Guidelines Vincenzo Berghella, 2022-03-30 This new edition of an acclaimed text reviews the evidence for best practice in obstetrics to present the reader with the right information, with appropriate use of proven interventions and avoidance of ineffectual or harmful ones. The information is presented in the right format by summarizing evidence succinctly and clearly in tables and algorithms. The aim is to inform the clinician, to reduce errors, and to make it easy to do it right. The volume can be purchased separately or together with the companion volume on Maternal-Fetal Evidence Based Guidelines (set ISBN 9780367567033). The Series in Maternal-Fetal Medicine is published in conjunction with the Journal of Maternal-Fetal and Neonatal Medicine. From reviews of previous editions: Obstetric Evidence Based Guidelines is a text that will prove useful to residents and fellows as well as to practicing obstetric clinicians. Furthermore, it can be used as a source for the development of hospital policies for the management of these obstetric problems ... The major advantage of this text is that it provides guidelines for the management of commonly encountered obstetric issues in a single book. —JAMA This is a welcome addition to a physician’s library. Its use of current studies and easy-to-read format allow for easy fact-checking and referencing. —Doody’s Review Service
  myriad counsyl: Genetik für Dummies Tara Rodden Robinson, Lisa Spock, 2021-09-28 Die Genetik ist eines der naturwissenschaftlichen Fachgebiete, deren Wissen am schnellsten wächst und deren Erkenntnisse ständig in Bewegung und in der Diskussion sind. Genetik für Dummies erklärt, was überhaupt hinter diesem spannenden Thema steckt. Die Autorinnen Tara Rodden Robinson und Lisa J. Spock erklären einfach und prägnant die Grundlagen der Vererbungslehre, wie beispielsweise die Mendelschen Regeln und die Zellteilung. Sie zeigen auch, wie die DNA aufgebaut ist, wie sie kopiert und richtig in Proteine übersetzt wird. Außerdem gehen sie auf die Bedeutung der Genetik in der Humanmedizin ein, wie Genmutationen entstehen und Erbkrankheiten zur Folge haben. Auch die heißen Themen wie Gentechnik, Stammzellentherapie und der Einsatz der Genetik in der Rechtsmedizin kommen nicht zu kurz.
  myriad counsyl: Practical Genetic Counseling for the Laboratory McKinsey L. Goodenberger, Brittany C. Thomas, Teresa Kruisselbrink, 2017-02-28 An essential manual for the future of genetic counseling Genetic counselors possess the important set of skills necessary to face the unique challenges encountered within the laboratory. As the primary liaisons between genetic technologies and patient-facing clinicians, lab counselors must have equal competency in genetic testing protocols, interpretation, and communication of clinical recommendations. Practical Genetic Counseling for the Laboratory is the first book to codify the theory and practice of laboratory genetic counseling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counselors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counselors at any career stage. Topical coverage includes: · Interpretation of genetic tests, including those specific to biochemical genetics, cytogenetics, molecular genetics, and prenatal screening · Practical guidelines for test utilization, test development, and laboratory case management · Elements for education and training in the laboratory · Counseling skills, including the consideration of ethical dilemmas, nonclinical considerations, including sales and publishing For students in this important sector of the industry or for counselors already working in it, Practical Genetic Counseling for the Laboratory offers readers a standardized approach to a dynamic subject matter that will help shape the field's future.
  myriad counsyl: CyberGenetics Anna Harris, Susan Kelly, Sally Wyatt, 2016-04-28 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.
  myriad counsyl: Genomic Applications in Pathology George Jabboure Netto, Karen L. Kaul, 2018-12-10 ​The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.
  myriad counsyl: Facts about Cystic Fibrosis , 1995
  myriad counsyl: Practical Genetic Counseling for the Laboratory McKinsey L. Goodenberger, Brittany C. Thomas, Teresa Kruisselbrink, 2017 This is an essential manual for the future of genetic counselling. It codifies the theory and practice of laboratory genetic counselling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counsellors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counsellors at any career stage
  myriad counsyl: Breakthrough Kevin Davies, Michael White, 1995 In 1994 medical research broke the barrier - a gene contributing to hereditary breast cancer.
  myriad counsyl: Biotech Innovations and Fundamental Rights Roberto Bin, Sara Lorenzon, Nicola Lucchi, 2012-05-13 Biotechnology is a recognized research area that has increasingly advanced into new technologies and modern practices raising several legal, ethical and regulatory issues. The revolutionary speed of biotech innovations has had a significant impact on the protection of the rights of the individual. Fundamental rights provide a framework within which the justification of limitations and restrictions to biotechnology innovations and research results have to be assessed. The legal regulation of scientific research and scientific investigations impact more and more directly on the freedom of research and therapies as well as on the broad diffusion of knowledge. Closely related is also the debated question of the technological manipulation of life and the boundary of scientific knowledge with regard to the topical question of genetic invention patents and their side effects on access to scientific information and health care opportunities. Drawing on expertise from different disciplines, the volume comprises invited papers and plenary presentations given at the conference entitled “Biotech Innovations & Fundamental Rights” that took place on Januray 20-21 2011 at the Department of Juridical Sciences of the University of Ferrara. Each contribution covers a different aspect of the legal and scientific issues involved in regulation of biotechnology. In particular the focus of attention has been given to genetic research, genetic data, freedom of scientific research in genetics and biotech patents.
  myriad counsyl: Breakthrough Kevin Davies, Michael White, 1996-01-26 The race began in October 1990, when Dr. Mary-Claire King startled the American society of Human Genetics with the news that after fifteen years, her research group had found irrefutable evidence of a gene linking heredity and the risk of breast cancer. From that moment on, the quest to isolate the gene became the focus of worldwide attention, eventually reaching fever pitch. In a race against time and one another, researchers relentlessly zeroed in on a piece of DNA too small to see, for a prize too enormous to contemplate.
  myriad counsyl: Tribe of Mentors Timothy Ferriss, 2017 Life-changing wisdom from 130 of the world's highest achievers in short, action-packed pieces, featuring inspiring quotes, life lessons, career guidance, personal anecdotes, and other advice
  myriad counsyl: Evolution of Translational Omics Institute of Medicine, Board on Health Sciences Policy, Board on Health Care Services, Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials, 2012-09-13 Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
  myriad counsyl: A Guide to Genetic Counseling Wendy R. Uhlmann, Jane L. Schuette, Beverly M. Yashar, 2011-09-20 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.
  myriad counsyl: Identity, Invention, and the Culture of Personalized Medicine Patenting Shubha Ghosh, 2012-09-10 This book provides an overview of developments in personalized medicine patenting and explores its normative implications to suggest policies to best regulate it.
  myriad counsyl: The Metabolic & Molecular Bases of Inherited Disease Charles R. Scriver, 2001 Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
  myriad counsyl: Small Molecule Therapy for Genetic Disease Jess G. Thoene, 2010-08-23 Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.
  myriad counsyl: Toward Precision Medicine National Research Council, Division on Earth and Life Studies, Board on Life Sciences, Committee on A Framework for Developing a New Taxonomy of Disease, 2012-01-16 Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for a new taxonomy of human disease based on molecular biology and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The new taxonomy that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.
  myriad counsyl: Democracy and Political Ignorance Ilya Somin, 2013-10-02 One of the biggest problems with modern democracy is that most of the public is usually ignorant of politics and government. Often, many people understand that their votes are unlikely to change the outcome of an election and don't see the point in learning much about politics. This may be rational, but it creates a nation of people with little political knowledge and little ability to objectively evaluate what they do know. In Democracy and Political Ignorance, Ilya Somin mines the depths of ignorance in America and reveals the extent to which it is a major problem for democracy. Somin weighs various options for solving this problem, arguing that political ignorance is best mitigated and its effects lessened by decentralizing and limiting government. Somin provocatively argues that people make better decisions when they choose what to purchase in the market or which state or local government to live under, than when they vote at the ballot box, because they have stronger incentives to acquire relevant information and to use it wisely.
  myriad counsyl: Genetic Counseling Practice Bonnie S. LeRoy, Patricia M. Veach, Nancy P. Callanan, 2020-11-17 The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling. This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include: Meeting the needs of culturally diverse patients Addressing challenging patient dynamics Working with children, adolescents and families Using emerging service delivery models for genetic counseling Engaging in self-reflective, deliberate practice Promoting genetic counselor professional development Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.
  myriad counsyl: First-Trimester Ultrasound Jacques S. Abramowicz, 2015-08-24 This book offers a unique and focused study of the use of ultrasound during the first trimester, a critical time in a fetus’ development. It includes basic examination guidelines as well as cutting-edge ultrasound modalities, including Doppler and three-dimensional ultrasound, for the period immediately preceding conception through early embryology. Beginning with a discussion of the safety and efficacy of diagnostic ultrasound and the use of this modality for the evaluation and treatment of infertility, recognized experts in the field explore conditions that may interfere with normal conception or development, including maternal diseases that would benefit from early scanning, elements of teratology, multiple gestations, ectopic pregnancy, gestational trophoblastic disease, fetal anomalies and invasive procedures in the first trimester. Numerous illustrations and figures are provided to serve as aids for understanding key concepts. First-Trimester Ultrasound is a valuable resource for many, in or after training, in obstetrics and gynecology, radiology, emergency medicine, family medicine and genetics.
  myriad counsyl: Jews and Genes Elliot N. Dorff, Laurie Zoloth, 2015-03 Well aware of Jews having once been the victims of Nazi eugenics policies, many Jews today have an ambivalent attitude toward new genetics and are understandably wary of genetic forms of identity and intervention. At the same time, the Jewish tradition is strongly committed to medical research designed to prevent or cure diseases. Jews and Genes explores this tension against the backdrop of various important developments in genetics and bioethics--new advances in stem cell research; genetic mapping, identity, testing, and intervention; and the role of religion and ethics in shaping public policy. Jews and Genes brings together leaders in their fields, from all walks of Judaism, to explore these most timely and intriguing topics--the intricacies of the genetic code and the wonders of life, along with cutting-edge science and the ethical issues it raises.
  myriad counsyl: Learning by Doing James Bessen, 2015-01-01 Technology is constantly changing our world, leading to more efficient production. In the past, technological advancements dramatically increased wages, but during the last three decades, the median wage has remained stagnant. Many of today's machines have taken over the work of humans, destroying old jobs while increasing profits for business owners and raising the possibility of ever-widening economic inequality. Author James Bessen argues that avoiding this fate will require unique policies to develop the knowledge and skills necessary to implement the rapidly evolving technologies. At present this technical knowledge is mostly unstandardized and difficult to acquire, learned through job experience rather than in classrooms. Nor do current labor markets generally provide strong incentives for learning on the job. Basing his analysis on intensive research into economic history as well as today's labor markets, the author explores why the benefits of technology take years, sometimes decades, to emerge. Although the right policies can hasten this process, policy has moved in the wrong direction in recent decades, protecting politically influential interests to the detriment of emerging technologies and broadly shared prosperity.
  myriad counsyl: Molecular Genetic Pathology Liang Cheng, David Y. Zhang, John N. Eble, 2013-03-05 Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
  myriad counsyl: Genome Structure and Function C. Nicolini, 1997-05-31 Proceedings of the NATO Advanced Study Institute on Genome Structure and Function, held in Marciana Marina, Elba, Italy, 13-23 June 1996
  myriad counsyl: How We Do Harm Otis Webb Brawley, MD, Paul Goldberg, 2012-01-31 A startling and important exposé on the state of medicine, research, and healthcare today by the Chief Medical and Scientific Officer of the American Cancer Society How We Do Harm exposes the underbelly of healthcare today—the overtreatment of the rich, the under treatment of the poor, the financial conflicts of interest that determine the care that physicians' provide, insurance companies that don't demand the best (or even the least expensive) care, and pharmaceutical companies concerned with selling drugs, regardless of whether they improve health or do harm. Dr. Otis Brawley is the chief medical and scientific officer of The American Cancer Society, an oncologist with a dazzling clinical, research, and policy career. How We Do Harm pulls back the curtain on how medicine is really practiced in America. Brawley tells of doctors who select treatment based on payment they will receive, rather than on demonstrated scientific results; hospitals and pharmaceutical companies that seek out patients to treat even if they are not actually ill (but as long as their insurance will pay); a public primed to swallow the latest pill, no matter the cost; and rising healthcare costs for unnecessary—and often unproven—treatments that we all pay for. Brawley calls for rational healthcare, healthcare drawn from results-based, scientifically justifiable treatments, and not just the peddling of hot new drugs. Brawley's personal history – from a childhood in the gang-ridden streets of black Detroit, to the green hallways of Grady Memorial Hospital, the largest public hospital in the U.S., to the boardrooms of The American Cancer Society—results in a passionate view of medicine and the politics of illness in America - and a deep understanding of healthcare today. How We Do Harm is his well-reasoned manifesto for change.
  myriad counsyl: Clinical Genomics Shashikant Kulkarni, Somak Roy, 2014-11-10 Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. - Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm - Tried and tested practice-based analysis for precision diagnosis and treatment plans - Specific pipelines and meta-analysis for full range of clinically important variants
  myriad counsyl: The $1,000 Genome Kevin Davies, 2010-09-07 In this essential guide to the brave new future, Dr. Kevin Davies, author of Cracking the Genome, reveals the masterful ingenuity that transformed the process of decoding DNA and vividly brings the extraordinary drama of the grand scientific achievement to life. In 2000, President Bill Clinton signaled the completion of the Human Genome Project at a cost in excess of $2 billion. A decade later, the price for any of us to order our own personal genome sequence—a comprehensive map of the 3 billion letters in our DNA—had already dropped to just $1,000. Dozens of men and women—scientists, entrepreneurs, celebrities, and patients—have already been sequenced, pioneering a bold new era of personalized genomic medicine. The $1,000 genome has long been considered the tipping point that would open the floodgates to this revolution. How has this astonishing achievement been accomplished? To research the story of this unfolding revolution, critically acclaimed science writer Kevin Davies traveled to the leading centers and interviewed the entrepreneurs and pioneers in the race to achieve the $1,000 genome. Davies also profiles the future of genomic medicine and thoughtfully explores the many pressing issues raised by the tidal wave of personal genetic information.
  myriad counsyl: The Gene Wars Robert M. Cook-Deegan, 1994 Cook-Deegan, a former director of the Biomedical Ethics Advisory Committee of the US Congress and an advisor to the National Center for Human Genome Research, gives a firsthand account of the struggle to launch the Human Genome Project. Using primary documents and interviews, Cook-Deegan explains scientific details, chronicles the origins of the project, covers the conflicts and partnerships between the organizations involved, and examines ethical, legal, and social issues of DNA research. Includes bandw photos. Annotation copyright by Book News, Inc., Portland, OR
  myriad counsyl: Gene Expression Programming Candida Ferreira, 2006-08-29 This book describes the basic ideas of gene expression programming (GEP) and numerous modifications to this powerful new algorithm. It provides all the implementation details of GEP so that anyone with elementary programming skills will be able to implement it themselves. The book includes a self-contained introduction to this new exciting field of computational intelligence. This second edition has been revised and extended with five new chapters.