Clinical Genomics

Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing.Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics.

- 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