Clinical Precision Medicine: A Primer

Description

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Clinical Precision Medicine: A Primer Copyright Contributors 1. Cytogenetics in precision medicine Cytogenetic techniques G-banding (karyotype) analysis Chromosome abnormalities Further reading 2. Molecular genetics—the basics of gene expression Replication DNA repair Transcription RNA processing Protein translation Regulation of gene expression Pretranscriptional gene regulation Posttranscriptional regulation The role of mutations in altering gene expression and protein function Mutations, gene expression, and precision medicine 3. Fundamentals of epigenetics Introduction Histone modifications and variants DNA methylation Genomic imprinting Prader-Willi/Angelman syndrome region Noncoding RNAs and microRNAs X chromosome inactivation Conclusions References 4. Fundamentals of heredity Introduction Pedigrees Autosomal dominant Autosomal recessive X-chromosome inactivation and X-linked inheritance Y-linked inheritance Mitochondrial inheritance and variable heteroplasmy Complications to Mendelian inheritance Conclusion References 5. Clinical genetics Prenatal genetic testing/screening Pediatric genetics Adult and specialty clinics Genetic counseling Further reading 6. Pharmacogenomics Introduction DNA variants DNA variants and pharmacology CYP variants in anticoagulant therapies Warfarin Clopidogrel DNA variants in drug transporters DNA variants in enzymatic pathways Drug development and clinical trials Conclusions References 7. Immunogenomics: steps toward personalized medicines Introduction Immune activation and exhaustion Cancer immunotherapy Checkpoint blockers Combinatorial approaches Chimeric antigen receptor T cell therapy Oncolytic virus therapy Cancer vaccines The technologies of immunogenomics T cell receptor and B cell receptor sequencing Role of precision medicine in immunogenomics Conclusions References 8. Technology of clinical genomic testing Introduction The Human Genome Project Next-generation sequencing Whole-exome sequencing Panels Single-gene resequencing ELSI and GINA Conclusions Reference Index A B C D E F G H I K L M N O P R S T U V W X Y