Genomics of Rare Diseases

Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui,James R. Lupski
Publsiher: Academic Press
Total Pages: 316
Release: 2021-06-12
ISBN: 0128204362
Category: Medical
Language: EN, FR, DE, ES & NL

Genomics of Rare Diseases Book Excerpt:

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

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

Advancing Genomics for Rare Disease Diagnosis and Therapy Development
Author: Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2020-12-08
ISBN: 2889661628
Category: Science
Language: EN, FR, DE, ES & NL

Advancing Genomics for Rare Disease Diagnosis and Therapy Development Book Excerpt:

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
Author: Arvin M. Gouw,Amritha Jaishankar,George A. Brooks
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2020-03-03
ISBN: 2889635244
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research Book Excerpt:

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

Rare Diseases
Author: Mani T. Valarmathi
Publsiher: BoD – Books on Demand
Total Pages: 150
Release: 2021-09-22
ISBN: 1839629304
Category: Medical
Language: EN, FR, DE, ES & NL

Rare Diseases Book Excerpt:

A rare disease is any disease or condition that affects a small percentage of the population. Many rare conditions are life-threatening or chronically debilitating, and unfortunately do not have appropriate treatments, rendering them incurable. In recent years, there has been substantial development in the area of rare disease research and its clinical applications, for instance, rare disease biology and genomics, epidemiology and preventions, early detection and screening, and diagnosis and treatment. In this context, this book consolidates the recent advances in rare disease biology and therapeutics, covering a wide spectrum of interrelated topics, and disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device manufacturers, especially to support rare disease product development. Chapters cover such diseases as Felty’s syndrome, Löfgren’s syndrome, mesothelioma, epidermolysis bullosa, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope
Author: Ana Sanfilippo,Jimmy Lin
Publsiher: Unknown
Total Pages: 135
Release: 2014-07-01
ISBN: 9781320056601
Category: Genomes
Language: EN, FR, DE, ES & NL

Rare Diseases Diagnosis Therapies and Hope Book Excerpt:

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.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope
Author: Ana Sanfilippo and
Publsiher: Unknown
Total Pages: 135
Release: 2014-08-29
ISBN: 9781320155298
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Rare Diseases Diagnosis Therapies and Hope Book Excerpt:

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.

Public Health Genomics

Public Health Genomics
Author: Paul Lacaze,Gareth Baynam
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2019-10-17
ISBN: 2889630099
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Public Health Genomics Book Excerpt:

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 Amazon

Rare Diseases  Amazon
Author: Ana Sanfilippo and
Publsiher: Unknown
Total Pages: 135
Release: 2014-05-30
ISBN: 9781320029575
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Rare Diseases Amazon Book Excerpt:

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.

Mapping Genetic Interactions for Rare Disease Associated Genes

Mapping Genetic Interactions for Rare Disease Associated Genes
Author: Kristin Kantautas
Publsiher: Unknown
Total Pages: 0
Release: 2020
ISBN: 1928374650XXX
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Mapping Genetic Interactions for Rare Disease Associated Genes Book Excerpt:

Over 7,000 rare diseases have been identified in the human population that, in aggregate, affect over 400 million people worldwide. The majority of rare diseases that have been identified are genetic in origin. However, a key challenge in developing therapies is that the functions of many rare disease-associated genes are poorly understood and consequently, their role in disease pathogenesis. There is strong appreciation that genes do not act in isolation and many disease phenotypes may arise from complex genetic interactions (GIs). Systematic mapping of GIs offers a wealth of information about gene function and advancements in gene-editing technology, such as clustered regularly interspaced short palindromic repeats (CRISPR), allows for GI mapping in human cells. In this thesis, I describe how lentiviral-based genome-wide pooled CRISPR/Cas9 screens offer insight into the function of rare disease-associated genes including NGLY1 and the genes encoding the complement regulatory proteins (CRPs): CD46, CD55, and CD59. Autosomal recessive mutations in NGLY1 give rise to NGLY1-deficiency, a congenital disorder of deglycosylation. How the loss of NGLY1 function contributes to disease pathogenesis is poorly understood. The CRPs are key inhibitors of the complement cascade and their impaired function contributes to a wide range of common and rare diseases. Similar to NGLY1, the functions of the CRPs independent of complement-regulation and roles in disease have not been explored using functional genomics approaches. To further our functional understanding of NGLY1 and the genes encoding the CRPs, I performed pooled genome-wide CRISPR/Cas9 screens to identify GIs, and uncovered a novel genetic relationship between the CRPs and the NGLY1 pathway involving genes in the secretory pathway that may coordinate different aspects of intracellular cholesterol trafficking. My work demonstrates the utility in mapping GIs in order to reveal functional relationships with rare disease genes, offering critical insight into the genetic underpinnings of NGLY1-deficiency and complement-independent functions of the CRPs. As the functions of many rare disease-associated genes are poorly characterized, mapping genetic interactions in co-isogenic human cell lines using genome-wide CRISPR screening approaches offers a powerful framework that may be exploited to gain insight into gene function and direct future therapeutic efforts.

Rare Diseases

Rare Diseases
Author: D. Taruscio
Publsiher: Unknown
Total Pages: 60
Release: 2014-02-11
ISBN: 9783318025729
Category: Medical
Language: EN, FR, DE, ES & NL

Rare Diseases Book Excerpt:

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.

Genetics and Genomics in Medicine

Genetics and Genomics in Medicine
Author: Tom Strachan,Judith Goodship,Patrick Chinnery
Publsiher: Taylor & Francis
Total Pages: 544
Release: 2014-06-02
ISBN: 1317594304
Category: Medical
Language: EN, FR, DE, ES & NL

Genetics and Genomics in Medicine Book Excerpt:

Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Bioinformatic Methods in Rare Disease Genomics

Bioinformatic Methods in Rare Disease Genomics
Author: Måns Magnusson
Publsiher: Unknown
Total Pages: 135
Release: 2021
ISBN: 9789180162760
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Bioinformatic Methods in Rare Disease Genomics Book Excerpt:

Increasing Role of Nutrition and Genomics in the Prevention and Management of Disease

Increasing Role of Nutrition and Genomics in the Prevention and Management of Disease
Author: M. Katz
Publsiher: Aspekt
Total Pages: 140
Release: 2004-05-01
ISBN: 9789059114074
Category: Diseases
Language: EN, FR, DE, ES & NL

Increasing Role of Nutrition and Genomics in the Prevention and Management of Disease Book Excerpt:

This book is one of the first scientific publications that the subject food combines with genetics and genomics and information provides about new options for prevention and management of disease. This complex interplay between genes, food and environment is not only a fascinating new field of research but a new vital area for maintaining health and adequate healthcare. The book gives the most recent knowledge about the effects on chronic diseases such as neurological and cardio vascular disorders and a number of rare metabolic disorders such as phenylketonuria (PKU and coeliac disease. The meaning for pregnancy and the first years of life is prominently described. The situation in developing countries (India) is discussed with proposals for structural improvements. The authors have written their contributions on request of patient organisations who wish a scientific basis for health policy and action in this field. The book will be published under auspices of the World Alliance of Organisations for the Prevention of Birth Defects.

Rare Diseases and Specialised Commissioning in England

Rare Diseases and Specialised Commissioning in England
Author: Anonim
Publsiher: Unknown
Total Pages: 135
Release: 2020
ISBN: 1928374650XXX
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Rare Diseases and Specialised Commissioning in England Book Excerpt:

Genomics

Genomics
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
Publsiher: Oxford University Press, USA
Total Pages: 200
Release: 2020
ISBN: 0198848382
Category: Genomics
Language: EN, FR, DE, ES & NL

Genomics Book Excerpt:

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."

Next Generation Sequencing NGS for Rare Diseases Diagnosis

Next Generation Sequencing  NGS  for Rare Diseases Diagnosis
Author: Xiu-An Yang,Hu Hao,Yanling Yang,Can Liao
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2022-01-28
ISBN: 2889742032
Category: Science
Language: EN, FR, DE, ES & NL

Next Generation Sequencing NGS for Rare Diseases Diagnosis Book Excerpt:

Implementing and Evaluating Genomic Screening Programs in Health CareSystems

Implementing and Evaluating Genomic Screening Programs in Health CareSystems
Author: Anonim
Publsiher: Unknown
Total Pages: 130
Release: 2018
ISBN: 9780309473422
Category: SCIENCE
Language: EN, FR, DE, ES & NL

Implementing and Evaluating Genomic Screening Programs in Health CareSystems Book Excerpt:

"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.

Rare Diseases in the Age of Health 2 0

Rare Diseases in the Age of Health 2 0
Author: Rajeev K. Bali,Lodewijk Bos,Michael Christopher Gibbons,Simon Ibell
Publsiher: Springer Science & Business Media
Total Pages: 292
Release: 2013-10-21
ISBN: 3642386431
Category: Technology & Engineering
Language: EN, FR, DE, ES & NL

Rare Diseases in the Age of Health 2 0 Book Excerpt:

This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Health Economics of Genomic Medicine

Health Economics of Genomic Medicine
Author: Sarah Wordsworth,Dean Regier
Publsiher: Unknown
Total Pages: 250
Release: 2022-01-15
ISBN: 9783110699555
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Health Economics of Genomic Medicine Book Excerpt:

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 with very different disease profiles. These developments require careful consideration from many perspectives, including health economics. Besides highlighting some of the challenges in assessing the economic impact of genomic medicine and the use of advanced (and less advanced) technologies, the book will propose potential solutions to these key challenges. For example, in terms of data availability, one obstacle to translating genomic sequencing into routine health care has been a lack of large randomised controlled clinical trials data for health economists and others to use to populate cost-effectiveness analyses (CEAs). Arguably, in response, reimbursement decisions have moved towards lower evidentiary standards, with the development of managed access programs that hope to balance the intense pressure for patient access with the need to consider the sustainability objectives of health care systems. Single arm trials are common for assessing clinical utility of precision medicine. By excluding a counterfactual, these trials introduce outcomes uncertainty through their inability to establish causal treatment effects. In this section of the book, we illustrate the application of quasi-experimental methods for evaluating precision medicine in case studies linking real-world big data and single arm trials. A further potential option here might be provided by 'big data' can be used to partially support CEAs in genomics. Advanced genomic sequencing is considered to be a prominent example of big data because of the quantity and complexity of data it produces and because it presents an opportunity to use powerful information sources that could reduce clinical and health economic uncertainty at a patient level. The creation of large national sequencing initiatives with sequencing data linked to clinical data (including health outcomes) and resource use data such as hospital episode statistics data and claims data. Large-scale sequencing projects such as the 100,000 Genome Project in the UK and the All of Us Program in the US are collecting an unprecedented amount of genomic, clinical and healthcare resource use data on individuals with cancer or rare diseases, as well as healthy individuals. Some of these large-scale projects are now approaching completion, and national health services are deciding whether WGS and WES should be translated into clinical practice for specific disorders.

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
Author: Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publsiher: Academic Press
Total Pages: 534
Release: 2020-04-10
ISBN: 0128173459
Category: Science
Language: EN, FR, DE, ES & NL

Handbook of Clinical Adult Genetics and Genomics Book Excerpt:

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad