Current Topics in Molecular Diagnostics and Precision Medicine, An Issue of the Clinics in Laboratory Medicine

1st Edition, Volume 42-4 - November 12, 2022
Editor: Gregory J. Tsongalis
Language: English
Hardback ISBN:
9 7 8 - 0 - 4 4 3 - 1 8 3 1 0 - 2
eBook ISBN:
9 7 8 - 0 - 4 4 3 - 1 8 3 1 1 - 9

In this issue of Clinics in Laboratory Medicine, guest editor Dr. Gregory Tsongalis brings his considerable expertise to Current Topics in Molecular Diagnostics and Precision… Read more

Current Topics in Molecular Diagnostics and Precision Medicine, An Issue of the Clinics in Laboratory Medicine

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In this issue of Clinics in Laboratory Medicine, guest editor Dr. Gregory Tsongalis brings his considerable expertise to Current Topics in Molecular Diagnostics and Precision Medicine. Top experts in the field cover key topics such as syndromic and point-of-care molecular testing; building evidence for clinical use of pharmacogenomics and reimbursement for testing; precision medicine using pharmacogenomic panel-testing; and more.

Cover image
Title page
Table of Contents
Copyright
Contributors
Forthcoming Issues
Preface
Syndromic and Point-of-Care Molecular Testing
Key points
Introduction
Significance
Present relevance and future avenues to consider/investigate
Summary
Building Evidence for Clinical Use of Pharmacogenomics and Reimbursement for Testing
Key points
Introduction
Building evidence to support pharmacogenomic implementation
Reimbursement for pharmacogenetic testing
Present relevance and future avenues to consider or to investigate
Summary
Replacement of Culture with Molecular Testing for Diagnosis Infectious Diseases
Key points
Introduction
Discussion
Next-Generation Sequencing Approaches to Predicting Antimicrobial Susceptibility Testing Results
Key points
Introduction
Genotype versus phenotype dilemma
Short-read versus long-read sequencing technologies for antimicrobial susceptibility testing
Different prediction models
Accuracy of whole genome sequencing to predict antimicrobial susceptibility testing
Summary of short-read Whole genome sequencing to predict antimicrobial susceptibility testing
Summary of short-read Metagenomic next-generation sequencing to predict antimicrobial susceptibility testing
Long-read sequencing to predict antimicrobial susceptibility testing
Promises and hurdles ahead
Supplementary data
Utility of Fluorescence In Situ Hybridization in Clinical and Research Applications
Key points
Introduction
Significance
Clinical use of fluorescence in situ hybridization and its major areas of advancement
Digitizing and automating fluorescence in situ hybridization imaging
Considerations for fluorescence in situ hybridization DNA probe validation
Role of in situ hybridization assays in hematological malignancies with a chromosomal basis
Fluorescence in situ hybridization probe design strategies to assess chromosomal correlates in acute myeloid leukemia
Fluorescence in situ hybridization probe strategies for detecting myeloproliferative neoplasms
Fluorescence in situ hybridization probe strategies detecting chromosomal correlates in mature B-cell neoplasms
Role of single nucleotide polymorphism chromosomal microarrays in hematological malignancies
Expanding traditional applications of fluorescence in situ hybridization
Future considerations
Summary
Precision Medicine Using Pharmacogenomic Panel-Testing: Current Status and Future Perspectives
Key points
Introduction
The lack of evidence of (cost-) effectiveness supporting a pharmacogenomics-panel approach
Finding the optimal target population and timing for delivering pharmacogenomics
The lack of tools supporting implementation of pharmacogenomics-panel testing
Future perspectives
Summary
HLA Typing by Next-Generation Sequencing: Lessons Learned and Future Applications
Key points
Introduction
HLA typing in the beginning
Molecular-based HLA typing era
Next-generation sequencing–based HLA typing
Future for clinical next-generation sequencing HLA typing
Applications of Noninvasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA
Key points
Introduction
Factors affecting noninvasive prenatal testing screening subchromosomal copy number variation
Challenges
Summary
The Role of the Human Gutome on Chronic Disease: A Review of the Microbiome and Nutrigenomics
Key points
Introduction
Significance
Discussion and future perspectives
Summary
Blood Group Genotyping
Key points
Introduction
Significance
Present relevance and future avenues to consider or to investigate
Summary
Definitions
Clinic care points
Cell-free Nucleic Acids in Cancer: Current Approaches, Challenges, and Future Directions
Key points
Preanalytical requirements
Technical approaches
Clinical applications
Summary
Clinics care points
Disclosure
Review of SARS-CoV-2 Antigen and Antibody Testing in Diagnosis and Community Surveillance
Key points
Introduction
Antibody testing
Antibody response
COVID-19 vaccines
SARS-CoV-2 antigen testing
Summary
Clinics care points

Gregory J. Tsongalis

Gregory J. Tsongalis, PhD, HCLD, CC, FNACB., is the Vice Chair for Research and the Director of the Laboratory for Clinical Genomics and Advanced Technology (CGAT) in the Department of Pathology and Laboratory Medicine at the Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center (NCCC) in Lebanon, NH. He is a Professor of Pathology and Laboratory Medicine at the Audrey and Theodor Geisel School of Medicine at Dartmouth in Hanover, NH and a member of the NCCC Molecular Therapeutics Program and the gastrointestinal and breast cancer clinical oncology groups. In 2016 he became a member of Dartmouth College’s Program in Experimental and Molecular Medicine (PEMM), and he has served on the advisory board of the Health Care Genetics Professional Science Master’s Degree Program and Diagnostic Genetic Sciences Program at the University of Connecticut (Storrs, CT). His area of expertise is in the development and implementation of clinical molecular diagnostic technologies. His research interests are in the pathogenesis of human cancers, personalized medicine and disruptive technologies. He has authored/edited twelve textbooks in the field of molecular pathology, published more than 230 peer reviewed manuscripts, and has been an invited speaker at both national and international meetings. He has served on numerous committees of the American Association for Clinical Chemistry, the American Society for Investigative Pathology, the Federation for American Societies for Experimental Biology, and the Association for Molecular Pathology (where he is a past President). He is active in the Alliance for Clinical Trials in Oncology, the Association for Molecular Pathology, the American Association for Clinical Chemistry, the American Association of Bioanalysts, and the American Society for Investigative Pathology. He serves on the editorial boards of 8 journals including Clinical Chemistry, Experimental and Molecular Pathology, and the Journal of Molecular Diagnostics. In 2016, Dr. Tsongalis received the Norris Cotton Cancer Center Award for Excellence, in 2017 the Association for Molecular Pathology (AMP) Jeffrey A. Kant Leadership Award, and in 2019 the American Society for Investigative Pathology Robbins Distinguished Educator Award. He also serves on numerous corporate scientific advisory boards.

Affiliations and expertise

Laboratory for Clinical Genomics and Advanced Technology (CGAT), Department of Pathology and Laboratory Medicine, Dartmouth, Hitchcock Medical Center and Dartmouth Cancer Center, Lebanon, NH, United States and the Geisel School of Medicine at Dartmouth, Hanover, NH, USA

Life sciences

Physical sciences & Engineering

Social sciences & Humanities

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