Clinical Genomics in Oncology: From Targeted Therapy to Mutational Load and Vaccine Design
This review describes how next-generation sequencing and computational analysis have transformed cancer care, from identifying individual targetable alterations to measuring tumour mutational burden as a predictor of immunotherapy response. The authors discuss emerging applications including liquid biopsy for monitoring treatment response, characterising resistance mechanisms, and informing personalised vaccine design. They highlight the challenge of ensuring equitable access to genomic testing across healthcare settings.
The original study
The emerging clinical relevance of genomics in cancer medicine.
- Authors
- Berger MF, Mardis ER
- Journal
- Nature reviews. Clinical oncology
- Type
- Journal Article, Review
- PMID
- 29599476
Original abstract
The combination of next-generation sequencing and advanced computational data analysis approaches has revolutionized our understanding of the genomic underpinnings of cancer development and progression. The coincident development of targeted small molecule and antibody-based therapies that target a cancer's genomic dependencies has fuelled the transition of genomic assays into clinical use in patients with cancer. Beyond the identification of individual targetable alterations, genomic methods can gauge mutational load, which might predict a therapeutic response to immune-checkpoint inhibitors or identify cancer-specific proteins that inform the design of personalized anticancer vaccines. Emerging clinical applications of cancer genomics include monitoring treatment responses and characterizing mechanisms of resistance. The increasing relevance of genomics to clinical cancer care also highlights several considerable challenges, including the need to promote equal access to genomic testing.