Updates on Next-Generation Sequencing

Providing optimal care for cancer patients includes a patient-specific treatment strategy. One topic discussed during a presentation at the 2019 Community Oncology Conference was Next-Generation Sequencing (NSG) and the personalization of oncology medicine based on each patient’s specifics.

Molecular profiling can not only be beneficial for the patient but also useful for clinical research/drug development (trial accrual) as well as cancer research/benefit of all (biology resistance).

The current medical landscape uses a “one size fits all” treatment approach. For instance, a group of seven colon cancer patients may receive the same therapy, which proves to be effective in three patients and ineffective in three patients and causes adverse events in one patient. However, if these same seven patients had undergone blood, DNA, urine, and tissue analysis, they would receive personalized treatment options that would likely be more effective.

Just as personalized diagnostics will require a multi-faceted approach, providers of precision medicine should possess several different characteristics in order to be successful:

  • Understand patients, new evidence, treatment options
  • Use current diagnostic and predictive tools to plan care
  • Use support systems to help interpret results and direct care
  • Communicate with patients, families, and colleagues

The research also forecasted several potential barriers to molecular diagnostics, including cost, tissue/biopsy, time, rarity of applicability, and handling/interpreting the data.

NSG specifically is defined as “a term used to describe a number of modern high throughput sequencing technologies.” These technologies may include:

  • Hot spot testing (zones in on common alteration genes in a specific gene subset)
  • Comprehensive Genomic Profiling (simultaneous testing for substitutions, duplications, insertions, deletions, indels, gene copy number variations, and structural variants, including inversions and translocations in specifically targeted regions)
  • Whole Exome Sequencing (testing on all targetable coding/regulatory regions of genome, roughly 1%-1.5% of the genome)
  • Whole Genome Sequencing (testing on all genome regions)
  • Whole Transcriptome Sequencing (testing on all transcriptome regions)

The introduction of new targeted therapies and immunotherapies have significantly changed how drugs are developed to treat oncological patients. Despite some of the aforementioned challenges to implementing molecular profiling, its use will provide a range of benefits not just for patients but for research and future clinical trials.

Burris H. NSG: An Overview for the Practicing Clinician in 2019.