Clinical Precision Medicine: A Primer

✍ Scribed by Judy S. Crabtree (editor)

• Publisher: Academic Press
• Year: 2019
• Tongue: English
• Leaves: 103
• Edition: 1
• Category: Library

✦ Synopsis

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.

✦ Table of Contents

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