Genomics Takes Center Stage at ASCO

This week we gather in Chicago to celebrate exciting and life-changing advances in cancer care at the annual American Society of Clinical Oncology (ASCO) meeting. The majority of presentations and discussions will be about emerging treatments that progressively improve outcomes for those diagnosed with cancer. Along with these discussions, there is increasing talk of who benefits most based on their cancer’s genomics. Of the five advances presented during the plenary session of ASCO on Sunday, June 2, two report on adult and pediatric trials where patient care was guided by DNA changes within their cancers. The central role of these presentations underscores the movement of genomics toward the center stage at ASCO and in clinical oncology. 

Genomics is the study of genes and what they do; by comprehensively sequencing a tumor’s genome – using technologies such as next generation sequencing (NGS) – we are able to understand the fundamental changes in what caused and continues to drive the development and progression of a patient’s cancer.

Let me explain why this is important. Cancer is more than just one disease. There are thousands of cancers. These cancers originate in different organs, pursue different trajectories, and contain different changes in their DNA code, often referred to collectively as genetic variants or mutations. It is these mutations that are the fundamental differences between cancer cells and normal cells. Identifying mutations in a tumor provides a taxonomy that helps classify each patient’s unique disease, and therefore, the ability to personalize their management. 

Only if we understand the mutations driving a tumor’s progression can we, in fact, apply the most precise therapies to eradicate it. Genomic tests represent nothing less than the difference between making educated guesses about which treatments will work, and knowing that a particular mutation, in this particular patient, should be treated with this particular drug or combination of drugs.

NGS has shown it can accurately detect tumor mutations, and that’s a useful milestone in and of itself. But what we identify in the lab we then need to transition into clinical action. NGS increasingly provides treatment roadmaps that enable oncologists to use a growing list of targeted treatments more effectively. Once we obtain our proof, we must stand up and take action. 

It is encouraging that our somewhat ponderous health care system, including regulators, payers, and providers, is evaluating and incorporating genomics into care. The Food & Drug Administration (FDA) is working hard to review and authorize an increasing number of submissions including new genomic-based oncology tests. Evidence is rapidly building with hundreds of clinical trials presently leveraging NGS across a wide range of cancers to target emerging therapies to specific molecularly-defined patient subgroups. As a result of completed studies, the National Comprehensive Cancer Network – regarded as a gold standard for best practices in cancer care – includes NGS as a technology to detect genetic variants in 18 cancer guidelines, including those for ovarian, lung, and colorectal cancers. 

And payers are also recognizing the clinical utility of these tests: The Centers for Medicare & Medicaid Services (CMS) provides national coverage determination for next generation sequencing tests in oncology when they are used to detect mutations that are FDA-approved companion diagnostics (e.g. they identify patient groups who benefit from targeted therapies). Anthem published a positive coverage policy for broad tumor sequencing panels provided they can report tumor mutational burden. Further, the MolDX Program of Palmetto GBA has a local coverage determination for the Guardant360 cfDNA sequencing panel. 

All these very important advances will bring cancer genomics out of the laboratory and into clinic. With greater adoption of genomics in the settings with demonstrated clinical utility, cancer care will improve. Patients will receive treatments that offer them the greatest potential benefit and their best possible prospects to survive and thrive, while avoiding unnecessary or ineffective therapies. Where possible, it is time for the oncology community to embrace genomic sequencing and bring this incredible advance in patient care to light to improve patient outcomes.

I am always excited to attend ASCO as each year we see encouraging progress to diminishing the pain and suffering cause by cancer. It is gratifying to see molecular insight and, specifically genomics, becoming more integral to decreasing the burden of cancer on individuals and their families.