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Genomics of Rare Diseases

Genomics of Rare Diseases Book
Author : Claudia Gonzaga-Jauregui,James R. Lupski
Publisher : Academic Press
Release : 2021-06-12
ISBN : 0128204362
Language : En, Es, Fr & De

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Book Description :

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research Book
Author : Arvin M. Gouw,Amritha Jaishankar,George A. Brooks
Publisher : Frontiers Media SA
Release : 2020-03-03
ISBN : 2889635244
Language : En, Es, Fr & De

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Book Description :

A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. A genomic approach to rare disease research is becoming the key to discovering unknown causes behind these syndromes. Genomic rare disease research has attracted not only academic researchers but also researchers from the biotech/pharma and non-profit organizations. The breadth and depth of current genomic approaches in rare disease is largely unexplored. While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches for rare diseases. This Research Topic provides a fruitful platform for rare disease researchers to share their findings and advance the field of genomics research in the rare disease space.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope Book
Author : Ana Sanfilippo,Jimmy Lin
Publisher : Unknown
Release : 2014-07-01
ISBN : 9781320056601
Language : En, Es, Fr & De

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Book Description :

This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was the year long process RGI undertook to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes twenty expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Amazon book price only.

Public Health Genomics

Public Health Genomics Book
Author : Paul Lacaze,Gareth Baynam
Publisher : Frontiers Media SA
Release : 2019-10-17
ISBN : 2889630099
Language : En, Es, Fr & De

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Book Description :

The use of human genetic data has the potential to significantly improve healthcare, however a range of scientific, ethical and practical implementation barriers remain.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope Book
Author : Ana Sanfilippo and
Publisher : Unknown
Release : 2014-08-29
ISBN : 9781320155311
Language : En, Es, Fr & De

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Book Description :

This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. "These rare diseases are collectively so common, affecting over 300 million globally," says co-author Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was a year long process to examine the topic from all sides. The book brings together interviews with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. "We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases," said the book's co-author Ana Sanfilippo. The book includes expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3 million for research that saved his son Ryan's life - John Crowley, who saved his own children's lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note that there is no markup on the book.

Rare Diseases Amazon

Rare Diseases  Amazon  Book
Author : Ana Sanfilippo and
Publisher : Unknown
Release : 2014-05-30
ISBN : 9781320029568
Language : En, Es, Fr & De

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Book Description :

This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD. The key to assembling such a comprehensive resource was the year long process RGI undertook to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes twenty expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Blurb book price and Amazon commission only.

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

Advancing Genomics for Rare Disease Diagnosis and Therapy Development Book
Author : Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts
Publisher : Frontiers Media SA
Release : 2020-12-08
ISBN : 2889661628
Language : En, Es, Fr & De

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Book Description :

Download Advancing Genomics for Rare Disease Diagnosis and Therapy Development book written by Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope Book
Author : Ana Sanfilippo
Publisher : Unknown
Release : 2014-07-01
ISBN : 9781320056618
Language : En, Es, Fr & De

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Book Description :

This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was the year long process RGI undertook to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes twenty expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Amazon book price only.

WA Rare Diseases Strategic Framework 2015 2018

WA Rare Diseases Strategic Framework 2015 2018 Book
Author : Western Australia. Office of Population Health Genomics
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download WA Rare Diseases Strategic Framework 2015 2018 book written by Western Australia. Office of Population Health Genomics, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Implementing and Evaluating Genomic Screening Programs in Health Care Systems Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publisher : National Academies Press
Release : 2018-05-16
ISBN : 0309473446
Language : En, Es, Fr & De

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Book Description :

Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.

Health Economics of Genomic Medicine

Health Economics of Genomic Medicine Book
Author : Sarah Wordsworth,Dean Regier
Publisher : Unknown
Release : 2022-01-15
ISBN : 9783110699555
Language : En, Es, Fr & De

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Book Description :

Although genomic medicine is still a fairly new clinical area, the history of health economics involvement in genomics has a longer history than might be anticipated. Some of the earliest health economics input into genomics was in areas such as neonatal and newborn screening, where health economists contributed to decisions about adding new conditions into newborn screening programmes worldwide. More recently, the first human genome was only sequenced in 2003, costing between US$500 million and US$1 billion. However, by 2008 costs had fallen to a level where so called 'next-generation sequencing (NGS)' approaches started to enter clinical research. NGS approaches allow either the whole genome using methods such as whole-genome sequencing (WGS) or parts of it using whole-exome sequencing (WES) or targeted panels to be sequenced in hours with increased sensitivity compared to older less advanced genetic testing approaches. These sequencing approaches provide information that can inform diagnosis, prognosis and clinical management for a variety of disorders, such as rare diseases and some cancers. However, the current costs are still too expensive for some health care providers and the benefit of the tests is largely unknown. Indeed, a lack of evidence on the cost-effectiveness of novel genomic technologies such as WGS is considered a key translational challenge. This is partly because economic evaluations of genomic technologies often fall outside the remit of health technology assessment (HTA) agencies, such as NICE and PBAC. Where they are undertaken (in a HTA context), the methods used for the assessment sometimes differ from those recommended by HTA agencies for cost-effectiveness analysis. This is against a background of uncertainty as to whether the terms precision medicine, personalised medicine or genomic medicine best capture this space in health care. Methodological challenges Some applications of genomic sequencing generate information that may not improve quality of life (as measured using preference-based health-related quality of life [HRQoL] instruments such as the EuroQol-five dimensions questionnaire) or extend life expectancy. One example is the use of WGS and WES to guide diagnosis in autism spectrum disorder. However, genomic sequencing results may influence patient wellbeing via non-clinical routes, generating 'personal utility'. This is a particular issue for individuals with rare diseases, who often have lengthy diagnostic journeys but few (if any) treatment options available once they receive a diagnosis. This could also be an issue if individuals without known health problems (healthy cohorts) undergo genomic sequencing and find out that they have an elevated risk of a disease, but no preventive action can be taken to manage this risk. With respect to costs, the costs of undertaking genomic tests are only one component of the cost of the overall genomic testing process. The costs that are incurred beyond those associated with the production of genomic information (so probably beyond the scope of any national tariffs that might be generated) include the costs of bioinformatics analysis, interpretation of results in multidisciplinary team (MDT) meetings and genetic counselling services. Such issues have raised questions about whether or not genomics is exceptional for health economists - possibly not, but the combined issues perhaps lead to it often requiring additional attention. There is also a consideration of the importance of accounting for the 'personal' when evaluating personalized medicine and considers the extent to which extra-welfarist and welfarist approaches to economic evaluation achieve this objective. Extra-welfarist approaches are currently used by many health technology assessment agencies but may not capture all of the outcomes that are important to patients in this context. Extensions to the extra-welfarist approach that might better capture the 'personal' are outlined, including multi-criteria decision analysis and the capability approach. Evidence A recent literature review identified only 36 economic evaluations of either WGS or WES, six of which were cost-effectiveness analyses using diagnostic yield as the outcome measure. Only two publications presented cost-utility analyses using quality-adjusted life-years (QALYs) as the measure of health outcomes. HTA agencies generally require data on survival and quality of life when evaluating new healthcare interventions, which, when combined, allow clinical utility to be quantified using QALYs. However, existing studies have primarily quantified the clinical utility of genomic tests in terms of changes in diagnostic yield. Methodological uncertainty among health economists is one potential explanation for the lack of evidence on the health outcomes associated with genomic sequencing. Over the past decade, health economists have repeatedly questioned whether metrics such as the QALY in genomic medicine, which focuses on clinical utility, can fully quantify the outcomes that are important to patients when they undergo genomic testing. Policy picture There are high-level discussions in several countries, including the UK, about extending the use of genomic sequencing into newborning screening, so effectively screening everyone at birth for a large range of conditions, far more than those currently being screened for and which there might not be treatments for yet. This is in addition to long term epidemiological and health economic discussions on using newborn screening for conditions such as hereditary hemochromatosis. A further area of uncertainty is the use of genomic sequencing in 'healthy populations', including direct to consumer testing (private genetic tests). In a public health care system setting, the UK Department of health is exploring the value of establishing a healthy cohort of volunteer. Furthermore, research studies are assessing the costs and effects of polygenetic risk scores in the context of primary care as an opportunistic 'health check' approach, which could incorporate risks for cardiovascular disease, diabetes, different cancers and conditions such as chrohn's disease etc. Clearly, there are health economic questions to be asked about the downstream costs and consequences of genomic tests in these newborn and 'healthy' populations. In cancer, there are discussions about how to handle the new invention of agnostic cancer drugs (which essentially target the mutation rather than the cancer, so the same drug can treat several cancers). This is an area where assessments are going through HTA agencies who are unsure about the best approaches to adopt to these assessments where drug companies are putting forward a drug for assessment that can potentially treat different cancers

Rare Diseases

Rare Diseases Book
Author : D. Taruscio
Publisher : Unknown
Release : 2014-02-11
ISBN : 9783318025729
Language : En, Es, Fr & De

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Book Description :

This special topic issue of 'Public Health Genomics' contains contributions discussing the subject in-depth. 'Public Health Genomics' is a well-respected, international peer-reviewed journal in Genetics. Special topic issues are included in the subscription.

Genomics

Genomics Book
Author : Sarah J. Lindsay,Lia Chappell,Julian Parkhill,Phil Jones,Jonathon Roberts,Nancy Holroyd,Faye Rodgers,Michal Spzak,Yali Xue,Chris Tyler-Smith,Francesca Gale
Publisher : Oxford University Press, USA
Release : 2020
ISBN : 0198848382
Language : En, Es, Fr & De

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Book Description :

La 4e de couverture indique :"In this title, scientists from the Wellcome Genome Campus reveal how this fast-growing area of biology is being used, and consider the ethical issues that are raised. Their exploration considers the technology needed to decipher the genomes of thousands of species; what genomics is revealing about human evolution; and the impact of genomics on medicine, asking how we can use genomics to identify rare diseases, track pathogens, and develop new drugs, vaccines, and cancer treatments."

Investigating the Human Genome

Investigating the Human Genome Book
Author : Moyra Smith
Publisher : FT Press
Release : 2011-06-08
ISBN : 0132172844
Language : En, Es, Fr & De

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Book Description :

Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. This book addresses into a wide spectrum of topics associated with human genetics and genomics, including: Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.

Human Genome Informatics

Human Genome Informatics Book
Author : Christophe Lambert,Darrol Baker,George P. Patrinos
Publisher : Academic Press
Release : 2018-08-02
ISBN : 0128134313
Language : En, Es, Fr & De

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Book Description :

Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine

Genetics and Genomics in Medicine

Genetics and Genomics in Medicine Book
Author : Tom Strachan,Judith Goodship,Patrick Chinnery
Publisher : Garland Pub
Release : 2014-05-27
ISBN : 9780815344803
Language : En, Es, Fr & De

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Book Description :

"Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare inherited and chromosomal disorders, but how genetics affects the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common complex diseases. The detailed, integrative coverage of genetic approaches to treatment and prevention includes pharmacogenomics and the prospects for personalized medicine. Cancers are essentially genetic diseases andare given a dedicated chapter that includes new insights from cancer genome sequencing. Clinical disorders are covered throughout and there are extensive end-of-chapter questions and problems"--Provided by publisher.

Understand Your Dna A Guide

Understand Your Dna  A Guide Book
Author : Folkersen Lasse
Publisher : World Scientific
Release : 2018-09-14
ISBN : 9813273275
Language : En, Es, Fr & De

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Book Description :

Are you considering to test your own DNA? Do you want to learn more about your health and ancestry? Understand your DNA — A Guide is about what you can use genetics for. For a few hundred dollars, you can now scan your own genes. Millions of people all over the world have already done so. Everyone wants to see what they can get to know about themselves, and the market growing rapidly. But what does it require from you? And what can you really use a DNA test for? Understand your DNA — A Guide helps you put the plots and charts of consumer genetics into perspective and enables you to figure out what's up and down in the media headlines. The book is also a key input for today's debate about what we as a society can and want to do with medical genetics. Genetics will play a growing role in the future. Understand your DNA — A Guide is an easy-to-read and necessary guide to that future. The book is provided with a foreword by Professor Sham Pak-Chung of Hong Kong University.While there are many books about genetics, they typically take the perspective of a scientist wanting to understand the molecular levels. At the same time, direct-to-consumer genetics is a booming market, with millions of people already tested. Very little has been published that will guide them for real, because the need here is more focused on medical and practical understanding, than focussed on molecules.This book therefore aims to hit that vacant spot in the market. It's a walk-through of all concepts that are necessary to understand in your own analysis. Meanwhile, it is also limited in scope to only those concepts — thus distinguishing it from broader works.The book is appropriate for the readerships in modern multi-ethnic metropolises because it mixes European and Asian examples, both from the collaboration between the author from Europe and the foreword-writer, Prof. Pak Sham of Hong Kong University. But also, because many of the examples in the book concerns differences and similarities between Asian and European ethnicities, something the author believes is a trend in time.

Refining Processes for the Co Development of Genome Based Therapeutics and Companion Diagnostic Tests

Refining Processes for the Co Development of Genome Based Therapeutics and Companion Diagnostic Tests Book
Author : Sarah H. Beachy,Samuel G. Johnson,Steve Olson,Roundtable on Translating Genomic-Based Research for Health,Adam C. Berger,Board on Health Sciences Policy,Institute Of Medicine
Publisher : National Academy Press
Release : 2014-03-06
ISBN : 9780309298216
Language : En, Es, Fr & De

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Book Description :

Many drug developers have examined new strategies for creating efficiencies in their development processes, including the adoption of genomics-based approaches. Genomic data can identify new drug targets for both common and rare diseases, can predict which patients are likely to respond to a specific treatment, and has the potential to significantly reduce the cost of clinical trials by reducing the number of patients that must be enrolled in order to demonstrate safety and efficacy. A key component of the approval of targeted therapeutics is the ability to identify the population of patients who will benefit from treatment, and this has largely hinged on the co-development and co-submission to the FDA of a companion diagnostic test.The co-development process, or the development of the test and drug for the simultaneous submission to FDA, has led to a major alteration in the way that drugs are being developed, with traditionally separate entities--pharmaceutical and diagnostic companies--now working in close collaboration. Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests is the summary of a workshop held by the Roundtable on Translating Genomic-Based Research for Health on February 27, 2013 to examine and discuss challenges and potential solutions for the codevelopment of targeted therapeutics and companion molecular tests for the prediction of drug response. Prior to the workshop, key stakeholders, including laboratory and medical professional societies, were individually asked to provide possible solutions to resolve the concerns raised about co-development of companion diagnostic tests and therapies. Workshop speakers were charged with addressing these solutions in their presentations by providing insight on (1) whether the proposed solutions address the problems described, (2) whether there are other solutions to propose, and (3) what steps could be taken to effectively implement the proposed solutions.

Implementing and Evaluating Genomic Screening Programs in Health CareSystems

Implementing and Evaluating Genomic Screening Programs in Health CareSystems Book
Author : Anonim
Publisher : Unknown
Release : 2018
ISBN : 9780309473422
Language : En, Es, Fr & De

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Book Description :

"Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics-based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop"--Publisher's description.

Bioinformatics and Functional Genomics

Bioinformatics and Functional Genomics Book
Author : Jonathan Pevsner
Publisher : John Wiley & Sons
Release : 2015-08-17
ISBN : 1118581695
Language : En, Es, Fr & De

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Book Description :

The bestselling introduction to bioinformatics and genomics – now in its third edition Widely received in its previous editions, Bioinformatics and Functional Genomics offers the most broad-based introduction to this explosive new discipline. Now in a thoroughly updated and expanded third edition, it continues to be the go-to source for students and professionals involved in biomedical research. This book provides up-to-the-minute coverage of the fields of bioinformatics and genomics. Features new to this edition include: Extensive revisions and a slight reorder of chapters for a more effective organization A brand new chapter on next-generation sequencing An expanded companion website, also updated as and when new information becomes available Greater emphasis on a computational approach, with clear guidance of how software tools work and introductions to the use of command-line tools such as software for next-generation sequence analysis, the R programming language, and NCBI search utilities The book is complemented by lavish illustrations and more than 500 figures and tables - many newly-created for the third edition to enhance clarity and understanding. Each chapter includes learning objectives, a problem set, pitfalls section, boxes explaining key techniques and mathematics/statistics principles, a summary, recommended reading, and a list of freely available software. Readers may visit a related Web page for supplemental information such as PowerPoints and audiovisual files of lectures, and videocasts of how to perform many basic operations: www.wiley.com/go/pevsnerbioinformatics. Bioinformatics and Functional Genomics, Third Edition serves as an excellent single-source textbook for advanced undergraduate and beginning graduate-level courses in the biological sciences and computer sciences. It is also an indispensable resource for biologists in a broad variety of disciplines who use the tools of bioinformatics and genomics to study particular research problems; bioinformaticists and computer scientists who develop computer algorithms and databases; and medical researchers and clinicians who want to understand the genomic basis of viral, bacterial, parasitic, or other diseases.