Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease
Clinical bioinformatics system is well-established for diagnosing genetic disease based on next-generation sequencing, but requires special considerations when being adapted for the next-generation sequencing-based genetic diagnosis of mitochondrial diseases. Challenges are caused by the involvement of mitochondrial DNA genome in disease etiology. Heteroplasmy and haplogroup are key factors in interpreting mitochondrial DNA variant effects. Data resources and tools for analyzing variant and sequencing data are available at MSeqDR, MitoMap, and HmtDB. Revised specifications of the American College of Medical Genetics/Associ...
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Lishuang Shen, Elizabeth M. McCormick, Colleen Clarke Muraresku, Marni J. Falk, Xiaowu Gai Source Type: research
Bioinformatics in Clinical Genomic Sequencing
With the onset of high-throughput sequencing technologies, molecular genetic pathology has emerged from a visual-based specialty to an informatics-driven specialty. The increasing capabilities and reduced costs of sequencers, data computation, and data storage have enabled large-scaled sequencing (exomes and genomes) to be accessible to a wide range of patients. These include diagnosis of rare gene tic conditions, in depth analysis of tumor–normal pairs, and screening of ostensibly healthy individuals. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Matthew S. Lebo, Limin Hao, Chiao-Feng Lin, Arti Singh Source Type: research
The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders
Molecular genetic approaches have evolved at astonishing pace in capacity, capability, and application in recent years, reflected by the increasingly routine use of whole exome sequencing (WES) in Mendelian and rare disorder diagnosis1 –3 and by the approximately 160 new disease–gene discoveries documented yearly.4 However, despite the revolutionary ascension of WES, 50% to 75% of patients remain without a genetic diagnosis (Fig. 1) 5–8 and, furthermore, more than 3000 Mendelian disorders are yet to be genetically defined. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Sarah L. Stenton, Holger Prokisch Source Type: research
The Evolution of Constitutional Sequence Variant Interpretation
This article reviews the history of germline sequence variant interpretation, highlighting the lines of evidence used in current variant interpretation practices. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Jessica Mester, Tina Pesaran Source Type: research
The Future of Clinical Diagnosis
Sequencing techniques are limited by the interpretation of a large number of coding and noncoding, sequence and structural, variants. In-silico tools for predicting the impact of coding variants and regulatory elements have become increasingly advanced. However, the evidence from these tools is generally not sufficient for accurate variant classification. In this article, the authors discuss a multi-omic approach that they foresee will enable genome-wide characterization and classification of variants by integrating several omics data, assisted by bioinformatics tools and deep learning algorithms for variant prioritization...
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Rini Pauly, Charles E. Schwartz Source Type: research
Precision Therapy for Inherited Retinal Disease
Inherited retinal diseases (IRDs) represent a diverse array of conditions characterized by dysfunction or loss of 1 or more retinal cell types. Next-generation sequencing has enabled rapid and relatively inexpensive genotyping, with more than 250 genes identified as responsible for IRDs. This expansion in molecular diagnostic accuracy, in combination with the retina ’s relative accessibility and immune privilege, has fostered the development of precision therapies to treat these myriad conditions. Novel techniques are being used in early trials. Precision molecular therapies for IRDs hold great promise as diagnostic and ...
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Nicole Koulisis, Aaron Nagiel Source Type: research
Therapeutic Gene Editing with CRISPR
Therapeutic gene editing with the clustered regularly interspaced short palindromic repeat (CRISPR) –Cas system offers significant improvements in specificity and programmability compared with previous methods. CRISPR editing strategies can be used ex vivo and in vivo with many theoretic disease applications. Off-target effects of CRISPR-mediated gene editing are an important outcome to be awa re of, minimize, and detect. The current methods of regulatory approval for personalized therapies are complex and may be proved inefficient as these therapies are implemented more widely. The role of pathologists and laboratory ...
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Elan Hahn, Matthew Hiemenz Source Type: research
Precision Medicine Exits the Hype Cycle and Enters into Productive Clinical Use
The notion of precision medicine broadly refers to the administration of a patient-specific treatment based on unique features of an individual or their disease that are identified in the laboratory. This concept is not new to medicine and has existed for many years to allow for the administration of compatible blood products and antibiotics selected based on antibiotic resistance testing. The modern incarnation of precision medicine leverages our ability to determine the molecular cause of genetic disorders and apply rational therapies based on specific disease-causing genetic variants. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Ryan J. Schmidt Tags: Preface Source Type: research
Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies
CLINICS IN LABORATORY MEDICINE (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Authors: Ryan J. Schmidt Source Type: research
Copyright
Elsevier (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Source Type: research
Contributors
MILENKO JOVAN TANASIJEVIC, MD, MBA (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Source Type: research
Contents
Ryan J. Schmidt (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Source Type: research
Clinics in Laboratory Medicine
Laboratory Testing for Neurologic Disorders (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - May 19, 2020 Category: Laboratory Medicine Source Type: research
Challenges with At-home and Mail-in Direct-to-Consumer Testing
This article focuses on challenges with DTC testing specifically related to preanalytical errors, result reporting, and result interpretation. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - January 31, 2020 Category: Laboratory Medicine Authors: Kornelia D. Galior, Nikola A. Baumann Source Type: research
Health Literacy and the Desire to Manage One's Own Health
With the ever-increasing market share of direct-to-consumer (DTC) testing, projected to surpass $350 million this year, health care professionals must address the health literacy gap that exists between what the clinician knows and what the general public understands about clinical laboratory testing. Health literacy is lowest among people with lower socioeconomic status and results in poorer outcomes. However, these individuals represent those that would benefit most from valuable DTC testing. There is a need for unbiased and universally accessible tools to help improve consumers ’ understanding of test utility, limitat...
Source: Clinics in Laboratory Medicine - January 31, 2020 Category: Laboratory Medicine Authors: Nicole V. Tolan Source Type: research
