Estrid Høgdall

Clinical Professor, Department of Clinical Pathology, Herlev Hospital


Next-generation sequencing (NGS) is a powerful technology that has revolutionized cancer research and clinical practice. It allows for the rapid and cost-effective sequencing of large amounts of DNA or RNA, enabling researchers to study the genetic changes associated with cancer development and progression.

By sequencing the entire genome or specific regions of interest researchers can identify somatic mutations in tumor cells that are not present in normal cells. This information helps in understanding the underlying causes of cancer and developing/decide relevant targeted therapies. The NGS sequencing for clinicians’ cancer treatment decision might not be as complex as only 500 of the 20.000 genes in the human genome are cancer related.

NGS also enables sequencing the transcriptome of cancer cells, thereby clinicians and researchers can identify genes that are upregulated or downregulated in specific types of cancer. This information can be used to risk stratification of cancer patients and to develop biomarkers for early cancer detection, predict patient prognosis, and guide treatment decisions.

In addition to DNA and RNA sequencing, NGS in future can be used to analyze epigenetic modifications in cancer cells. Epigenetic changes, such as DNA methylation and histone modifications, can be mapped across the genome to identify aberrant epigenetic patterns associated with cancer.

In future, NGS may facilitate the study of tumor heterogeneity, which refers to the genetic diversity within a tumor, which may be important for understanding treatment resistance and developing personalized therapies.

The present talk will give a presentation of NGS used in a pathological department in a diagnostic workflow and future possible perspectives.