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Clinical Genome Sequencing

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Clinical Genome Sequencing

Clinical Genome Sequencing Book
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release : 2019-03-30
ISBN : 0128133368
Language : En, Es, Fr & De

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Book Description :

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

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Book Description :

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

Clinical Implementation of Next generation Sequencing Technologies in France and Quebec

Clinical Implementation of Next generation Sequencing Technologies in France and Quebec Book
Author : Gabrielle Bertier
Publisher : Unknown
Release : 2019
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

"The decreasing cost of next-generation sequencing (NGS) technologies has resulted in their increased use in research, and in the clinical context. Indeed, the correct interpretation of a human genome can enable better prevention, diagnosis and treatment strategies. Significant public investments in NGS have been made in developed nations to realise the promise of personalized medicine. Yet, today the sequencing and analysis of a patient's exome or genome is only offered as a clinical test in a few clinics around the world. France and Quebec have made sizable investments in genomics research, and France announced the launch of a genomic medicine plan in 2016. However, policy decisions still have to be made on the nation-wide clinical implementation of NGS technologies in both jurisdictions. Therefore, this project's objective was to contribute to the body of evidence available to policymakers in France and Quebec on the clinical implementation of NGS technologies. We focused our attention on two specific NGS technologies, namely Whole Genome Sequencing (WGS), and Whole Exome Sequencing (WES). We specifically aimed to assess if the responsible and efficient use of WES/WGS data in the context of clinical care could be impeded by policy gaps. Currently, the clinical interpretation of a patient's genome sequence data is done through the intervention of many stakeholders including basic science researchers. These researchers use bioinformatics tools, processes and norms developed for research to filter and analyse patients NGS data. In parallel, existing regulatory and normative frameworks have been developed for the use of genetic data, and include no clear definition of genomic data or genomic technologies. We hypothesised that these elements create a strong need for standardization of practices, and may require adaptations of current regulatory and normative frameworks to the context of NGS. We therefore aimed to answer three research questions: (1) What issues do technology users experience and foresee when using WES data to inform patient care? To answer this, we performed a systematic review of the literature.(2) How are patients' NGS data currently managed (produced, analysed, interpreted and shared) in clinical institutions in Quebec and in France? We answered this by performing a case studies analysis, interrogating key stakeholders directly involved in managing patients' NGS data in France and Quebec. (3) Are there gaps in the current regulatory and normative frameworks which should be addressed to enable a responsible and efficient standardized use of NGS data in the clinic? To answer this, we performed a narrative review of the currently applicable normative frameworks in France and in Quebec.In our systematic literature review, we identified 23 distinct challenges linked to the production, analysis, reporting and sharing of patients' WES data. We also found that technology users were calling for practices to be more standardized before NGS was offered as a clinical test, and that numerous infrastructural adjustments had to be made in order for healthcare institutions to accommodate the vase amounts of highly complex NGS data. Through our case study analysis, we showed that in addition to managing the various levels of complexities of producing, analysing and sharing complex NGS data, a significant buy-in from numerous stakeholders was necessary in order to offer clinical genomics to patients. At the National level, this cannot be done without a strong political will. Finally, through our normative frameworks analysis, we concluded that existing frameworks were highly protective of patients and research participants, and could need marginal adjustments in order to accommodate for NGS tests. However, we also concluded that clinical genomics could not be realized without political will, and sustained monetary and infrastructural investments, which are only partly present at the moment in France and Quebec." --

Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2014-08-19
ISBN : 0309304970
Language : En, Es, Fr & De

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Book Description :

Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information. To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.

Medical and Health Genomics

Medical and Health Genomics Book
Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Release : 2016-06-04
ISBN : 0127999221
Language : En, Es, Fr & De

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Book Description :

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Genomics and Clinical Medicine

Genomics and Clinical Medicine Book
Author : Dhavendra Kumar,David Weatherall
Publisher : Oxford University Press
Release : 2008-02-15
ISBN : 0195188136
Language : En, Es, Fr & De

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Book Description :

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Genomics Proteomics and Clinical Bacteriology

Genomics  Proteomics  and Clinical Bacteriology Book
Author : Neil Woodford,Alan Patrick Johnson
Publisher : Springer Science & Business Media
Release : 2004
ISBN : 1592597637
Language : En, Es, Fr & De

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Book Description :

This review of the application of proteomic and genomic advances in clinical biology covers principles such as the application of genomics to diagnostic bacteriology and protocols for interrogating bacterial genomes. It also provides updates on all the significant advances of genome sequencing.

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation Book
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Release : 2021-02-27
ISBN : 0128205202
Language : En, Es, Fr & De

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Book Description :

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Genomic and Personalized Medicine

Genomic and Personalized Medicine Book
Author : Geoffrey S. Ginsburg,Huntington F. Willard
Publisher : Academic Press
Release : 2012-11-15
ISBN : 0123822270
Language : En, Es, Fr & De

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Book Description :

This two-volume set provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine. Volume One Includes: Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care. Volume Two Includes: Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine. * Contributions from leaders in the field provide unparalleled insight into current technologies and applications in clinical medicine. * Full colour throughout enhances the utility of this work as the only available comprehensive reference for genomic and personalized medicine. * Discusses scientific foundations and practical applications of new discoveries, as well as ethical, legal/regulatory, and social issues related to the practice of genomic medicine.

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation Book
Author : Vinod Scaria,Sridhar Sivasubbu
Publisher : Research in Genomics
Release : 2015-02-11
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

A concise handbook on exome sequencing for clinicians and clinical geneticists.

Genome Sequencing in Personalised Medicine

Genome Sequencing in Personalised Medicine Book
Author : Sasha Green
Publisher : Unknown
Release : 2014
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

The exponentially decreasing cost, time and increasing accessibility of genomic sequencing technologies has meant that personal genome sequencing is becoming an affordable reality. Genomic sequence information is a unique dataset that has the potential to guide personalised medicine, particularly in the area of cancer management. Cancer is becoming an increasing burden worldwide, requiring innovation in healthcare to help combat it. There is already evidence of personalised medicine in cancer management through the use of targeted drug therapies and companion genetic tests, and this is expected to grow due to increasing genomic research and innovation. All tumours have unique combinations of mutations, therefore traditional cancer clinical pathways have been ineffective due to their one-size-fits-all approach. As a small flexible nation that has already embraced technology in healthcare with the digitalisation of electronic medical records, New Zealand may provide a model for using genomic sequence information in the clinical setting. It is proposed that the unique genomic sequence dataset will be stored in the electronic health record and leveraged to guide more personalised decisions in clinical pathways. To investigate this, qualitative semi-structured interviews with sixteen individuals involved in either cancer management or genomic research were undertaken, complemented by secondary data. Interviews aimed to understand the barriers and benefits that genomic sequence information may have in the clinical setting when applied to breast cancer management and its use in clinical pathways. It is evident that a number of ethical, storage, practical, technical, and economic barriers remain to be overcome before a clinical pathway software platform integrated with genomic sequence data can be implemented in routine clinical use. Therapeutic intervention and tumour monitoring were identified as the stages in the breast cancer clinical pathway that genomic information might be applied over the next five years, in combination with the multiplex assay panel sequencing platform. Genomic sequence information is one of many possible datasets contributing to a holistic view of a patient's health needs in order to provide a personalised approach to cancer management and care coordination. However the linchpin of this technology rests upon the uptake of clinical pathways in routine medical practice.

Integrating Large Scale Genomic Information into Clinical Practice

Integrating Large Scale Genomic Information into Clinical Practice Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2012-02-06
ISBN : 0309220378
Language : En, Es, Fr & De

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Book Description :

The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations Book
Author : Ali Samadikuchaksaraei,Morteza Seifi
Publisher : BoD – Books on Demand
Release : 2019-09-04
ISBN : 1789237998
Language : En, Es, Fr & De

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Book Description :

Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for development of many human diseases. This book addresses the methods of detection, analysis, and interpretation of genomic variations in clinically relevant scenarios. If your research or clinical practice involves handling of genomic sequencing data, this book is for you. Topics covered include: methods for identifying genetic diversity, the workflow for analyzing whole exome and whole genome sequencing data, local ancestry deconvolution models, the value of molecular patterns and pattern biomarkers in cancer diagnosis and prognosis, and genotyping and profiling resistance-associated variants of hepatitis C. If your research or clinical practice involves handling of genomic sequencing data, this book is for you.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2018-11-20
ISBN : 0128126841
Language : En, Es, Fr & De

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Book Description :

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics

Detection of Clinically Relevant Copy number Variants from Short read Sequencing Data for Genomic Diagnostics

Detection of Clinically Relevant Copy number Variants from Short read Sequencing Data for Genomic Diagnostics Book
Author : Ramakrishnan Rajagopalan
Publisher : Unknown
Release : 2021
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

The overall goal of clinical genomic diagnostics is to identify pathogenic genetic variants that cause disease. Genetic variants can be classified into different subtypes based on the nature of the variant (sequence, copy-number, and structural variants), and current standard of care protocols require different diagnostic assays to detect these subtypes. Patients with suspected genetic disease often receive both chromosomal microarray array (CMA) testing for genome-wide copy number variant detection and exome sequencing for sequence variant detection to cover the spectrum of variant subtypes and sizes during their diagnostic odyssey. While short-read NGS testing, such as exome and genome, can detect both copy number and sequence variants, its implementation into the clinical lab has been hampered by both the lack of clinical standards and technical challenges concerning performance. Although not a currently offered clinical test, the identification of both copy number and sequencing variants from the same data would reduce the time to diagnosis, the costs involved, and significantly impact patient care. Using a cohort of 307 samples with clinical CMA and exome sequencing data, this thesis presents high quality, clinical-grade technical validation study and a new approach to tackling the major issue of false positives with current algorithms for CNV detection from exomes. A novel reproducibility framework was developed to assess the effect of control cohorts, and an R package for scalability in high-performance computing environments to analyze large exome sequencing cohorts. Application of the tools developed in this thesis to a cohort of 546 patients with rare pediatric disorders revealed eight novel diagnoses (1.5%) over their standard of care testing, and application to routine clinical epilepsy and hearing loss next-generation sequencing panels provided a minimum additional diagnostic yield of 2%. Over the next few years, genome sequencing is poised to become a first-tier diagnostic test, with the capability to detect all major classes of variation, including structural variants. Building on the exome work, I have developed a clinical-grade analytical workflow to integrate copy number and structural variants using 48 index samples with genome sequencing data and improved the false-positive rate. Application of this workflow to a cohort of 14 patients with clinically diagnosed Alagille Syndrome, but without a molecular diagnosis, revealed four novel diagnoses that were not detectable by the prior standard of care tests. These findings included a submicroscopic inversion in the gene JAG1 and a deletion in NOTCH2, the first-ever pathogenic copy number variant identified in this gene. Further, applying these methods to a cohort of 15 patients with nonsyndromic hearing loss revealed three novel diagnoses. The case series presented in this work argues the advantage of genome sequencing over the current standard of care tests for variants undetectable by their standard of care testing. Together, the frameworks presented in this thesis improved the current standard of care exome test and laid the groundwork for a future clinical test, genome sequencing. In addition, I demonstrated the clinical utility of the tools developed in this work showing how these approaches resulted in novel diagnoses and developed recommendations for broader application in clinical diagnostic settings. Keywords: copy-number variants, next-generation sequencing, Short-read sequencing, structural variation

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

Application and Integration of Omics Powered Diagnostics in Clinical and Public Health Microbiology

Application and Integration of Omics Powered Diagnostics in Clinical and Public Health Microbiology Book
Author : Jacob Moran-Gilad
Publisher : Springer Nature
Release : 2021-09-24
ISBN : 3030621553
Language : En, Es, Fr & De

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Book Description :

Download Application and Integration of Omics Powered Diagnostics in Clinical and Public Health Microbiology book written by Jacob Moran-Gilad, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genomic Medicine

Genomic Medicine Book
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford University Press (UK)
Release : 2014
ISBN : 019989602X
Language : En, Es, Fr & De

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Book Description :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

The Drama of DNA

The Drama of DNA Book
Author : Karen H. Rothenberg,Lynn Wein Bush
Publisher : Oxford University Press, USA
Release : 2014
ISBN : 0199309353
Language : En, Es, Fr & De

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Book Description :

Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, pedagogical approach shines a unique light on the ethical, psychosocial, and policy challenges that emerge as comprehensive sequencing of the human genome transitions from research to clinical medicine. Narrative genomics aims to enhance understanding of how we evaluate, process, and share genomic information, and to cultivate a deeper appreciation for difficult decisions encountered by health care professionals, bioethicists, families, and society as this technology reaches the bedside. This innovative book includes both original genomic plays and theatrical excerpts that illuminate the implications of genomic information and emerging technologies for physicians, scientists, counselors, patients, blood relatives, and society. In addition to the plays, the authors provide an analytical foundation to frame the many challenges that often arise.

Genomic and Precision Medicine

Genomic and Precision Medicine Book
Author : Geoffrey S. Ginsburg,Huntington F Willard
Publisher : Academic Press
Release : 2016-11-22
ISBN : 0128006560
Language : En, Es, Fr & De

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Book Description :

Genomic and Precision Medicine: Translation and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care. Provides a comprehensive volume on the translation and implementation of biology into health care provision Presents succinct commentary and key learning points that will assist readers with their local needs for translation and implementation Includes an up-to-date overview on major ‘translational events’ in genomic and personalized medicine, along with lessons learned