Genetics and Pathology Convergence: Integrating Genomic Analysis with Disease Mechanism Understanding
This editorial review argues that the analytical power of modern DNA sequencing has outpaced our ability to interpret variants in a biomedical context. The authors emphasise that effective clinical genomics requires coupling genetic data with pathological understanding of how mutations affect biochemical pathways. This perspective is foundational for variant interpretation frameworks used in molecular diagnostics laboratories.
The original study
Genetics meets pathology - an increasingly important relationship.
- Authors
- Bonthron DT, Foulkes WD
- Journal
- The Journal of pathology
- Type
- Journal Article, Review
- PMID
- 27859271
Original abstract
The analytical power of modern methods for DNA analysis has outstripped our capability to interpret and understand the data generated. To make good use of this genomic data in a biomedical setting (whether for research or diagnosis), it is vital that we understand the mechanisms through which mutations affect biochemical pathways and physiological systems. This lies at the centre of what genetics is all about, and it is the reason why genetics and genomics should go hand in hand whenever possible. In this Annual Review Issue of The Journal of Pathology, we have assembled a collection of 16 expert reviews covering a wide range of topics. Through these, we illustrate the power of genetic analysis to improve our understanding of normal physiology and disease pathology, and thereby to think in rational ways about clinical management. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.