Clinical Genomics

Clinical Genomics, Second Edition is a comprehensive, practical reference [AN1] designed specifically for laboratory directors, clinical medical directors, and genomic medicine professionals. Edited by renowned genomic pathology leaders Kulkarni and Roy, this updated edition offers clear guidance on the current technical, bioinformatic, clinical, regulatory, and reimbursement considerations involved in implementing next-generation sequencing technologies within clinical molecular diagnostic laboratories.

Structured for ease of reference, this book covers targeted gene sequencing methods, whole exome/genome approaches, emerging technologies such as long-read sequencing, and critical considerations for assay validation. Detailed sections address bioinformatics workflows, variant detection and interpretation methodologies, integration with clinical informatics systems, and essential IT infrastructure, including cloud-based solutions.

This book also thoroughly addresses practical topics essential to laboratory management, such as regulatory compliance, ethical frameworks, billing strategies, and reimbursement paradigms, helping directors navigate the evolving landscape of genomic diagnostics.

. Technical guidance: In-depth overview of sequencing platforms, chemistries, targeted capture methods, RNA sequencing, and methylome analysis for informed assay design and validation
. Bioinformatics workflows: Practical approaches for implementing pipelines to accurately detect and interpret genomic variants, structural changes, and complex genomic alterations
. Clinical implementation: Real-world applications for both constitutional and somatic disorders, including cancer diagnostics and precision medicine strategies
. Regulatory and ethical insights: Current regulatory requirements, ethical considerations, legal implications, and genomic reference standards pertinent to clinical practice.
. Operational and financial considerations: Guidance on billing, reimbursement, and operational integration of genomic medicine into clinical practice and electronic health records