In recent years, next-generation sequencing techniques have revolutionized approaches to cancer therapy and care. Personalized medicine, also known as precision medicine, can make cancer treatment more effective, with fewer side effects. Precision medicine is an approach to disease prevention and treatment that seeks to maximize effectiveness by considering individual variability in genes, environment, and lifestyle. Personalized medicine includes targeted therapy and pharmacogenomics.
 
New targeted therapy approvals are happening at a fast pace, but a growing number of patients are still given chemotherapy instead of personalized therapies as a first-line treatment. Despite all these advancements, not all patients have access to personalized treatment. To enable effective adoption of precision oncology in cancer treatment, next-generation sequencing is necessary. 
 
Compared to traditional methods, NGS offers advantages in accuracy (sensitivity and specificity) and speed that has the potential to make a significant impact on the field of oncology. Because NGS can assess multiple genes in a single assay, it eliminates the need to conduct multiple tests to identify the causative mutation.
 
Guidelines from National Comprehensive Cancer Network (NCCN) recommend testing for 10 specific biomarkers before initiating treatment for advanced non-small lung cancer (NSCLC), with a specific focus on EGFR in exons 19, 20 and 21. Other guidelines call for testing of six biomarkers in colon cancer, including KRAS/NRAS and BRAF mutations, as well as HER2 amplifications and microsatellite instability (MSI) high/mismatch repair (MMR) status among those with metastatic colorectal cancer.
 
With targeted therapies becoming the new standard of care in oncology, NGS-driven companion diagnostics are widely seen as driving the selection of treatments to optimize patient outcomes in the future.  In addition, NGS has been applied to sequence circulating tumor DNA (ctDNA) in the area of liquid biopsy. Since ctDNA is the DNA fragments released by tumor cells, it can provide a molecular profile of cancer. Liquid biopsy can be applied to all stages of cancer diagnosis and treatment, allowing non-invasive and real-time monitoring of disease development.
 
There are several challenges in using NGS that will need to be addressed, especially for the community oncology practice where most patients reside. Streamlining NGS along with clinical genomic interpretation and reporting, especially for sophisticated panels, remains time-consuming and challenging. Other major limitations of genomic testing are related to quality of the starting material for testing, the ability of a given sequencing method to generate usable results with the tissue sample, and complex workflow involved in conducting a NGS test. Cost is another concern and access in certain regions.
 
During last year’s American Association for Cancer Research Conference on The Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved, a study showed that molecular testing occurred less frequently among historically underrepresented groups, older patients, and among uninsured or Medicaid-insured patients.
 
In August, State-regulated Illinois health plans will cover biomarker testing starting in 2022. Biomarker testing, the medical technology used to determine medical risk factors like cancer, will now be covered under Medicaid as well as state-regulated insurance plans. Now, patients in Illinois will be able to get personalized therapy without worrying about the costs with biomarker testing, to help figure out the right treatment at the right time to improve the quality of life for patients.
 
But how do we ensure this model is adopted across all states, cities and hospitals across the U.S.? The focus is providing clinicians high quality, accurate and cost effective IVD testing to enable better treatment-decisions for cancer patients. Pillar’s machine learning automated primer design software, single tube lab workflow, and bioinformatic analytics platform provide a one stop solution. Streamlined workflows are important, so tests can be performed by any lab that conducts NGS testing. Affordable tests increase patient access, to provide the rapid turnaround time necessary to guide physician treatment decisions.
 
According to the National Cancer Institute, in 2020, about 600,000 people died of cancer. The most common cancers are breast cancer, lung and bronchus cancer, and prostate cancer. The hope is that with personalized medicine, more patients can have better odds of beating cancer.
 
With these new emerging technology and products, equity of care and access is important. Molecular testing should be available to all patients and there is still much to be done. There are disparities between comprehensive cancer centers and community center hospitals, but every hospital and CLIA lab should all be empowered to conduct NGS testing closest to where a patient resides.
 
This in-hospital NGS testing model enables adoption of personalized medicine throughout a patient’s continuum of care. We need to create a standard of care that is inclusive, where all patients have access to personalized therapy.
 

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Gang Song, Ph.D., is the founder, president and CEO of Pillar Biosciences, who co-invented Pillar Biosciences’ SLIMamp technology. He subsequently co-founded Affyimmune Therapeutics, a cellular immunotherapy company, and is also a venture partner at ORI Capital. Previously, Dr. Song held positions of increasing responsibility at LabCorp (previously Genzyme Genetics) and IQuum (subsequently acquired by Roche Molecular Diagnostics). Dr. Song completed his postdoctoral training in Timothy Springer’s lab at Harvard Medical School and received his Ph.D. from Shanghai Medical College of Fudan University, China.