Elaine R. Mardis, PhD, FAACR: Envisaging Technological Innovation Through Cross-disciplinary Team Science



Elaine R. Mardis, PhD, FAACR
AACR President, 2019-2020
Co-Executive Director, ​The Institute for Genomic Medicine at Nationwide Children's Hospital
Columbus, Ohio

Over the past 30 years, I have witnessed firsthand the coming of age of the field of cancer genomics research. This field of basic research led to the development of a powerful new approach to cancer treatment, precision medicine. Continued increases in federal funding for research will allow us to support more cross-disciplinary team science, sparking a new wave of technological innovation that will have a major impact on future progress across the clinical care continuum.

As a doctoral student, I worked in one of the few academic laboratories in the United States to have a fluorescent DNA sequencer. It took all day, but we could read about 1,000 DNA units at a time. Now, as a result of incredible technological advancements, almost every academic laboratory in the country performing genomics-based research has a machine that can rapidly and accurately read millions of DNA units.

Among the breakthroughs that were made possible by the remarkable advances in our capacity to sequence DNA were the sequencing and analysis of the human genome, and the accurate sequencing and analysis of the genomes of many types of cancer, including acute myeloid leukemia, breast cancer, glioblastoma, and lung adenocarcinoma. Moreover, this technology has made it to the bedside; many clinics and commercial testing providers use genomic profiling of a patient’s tumor to identify disease-causing mutations and guide patient treatment.

The emergence of precision medicine is just one example of how a better understanding of cancer as a disease can ultimately lead to advances for patients. In fact, everything we do today to take care of people with cancer is built on decades of basic research.

Moving forward, increasing the integration of researchers from diverse disciplines, including engineering, mathematics, and computer sciences, into the cancer field will be highly impactful. It will help us model cancer as a system computationally using big data, and this will allow us to begin to interpret every patient as an entity under themselves.

A cross-disciplinary approach to cancer research will also drive further technological advancements. One cutting-edge technology that is poised to transform our understanding of cancer and, ultimately, patient care, is singe-cell sequencing. Single-cell sequencing of both cancer cells and normal cells is vital. We often lose sight in our study of disease that we need a context or baseline for what is normal; it is fundamentally important to characterize normal human cells and tissues because it makes our understanding of what is abnormal so much richer.

Cutting-edge gene-editing technologies like CRISPR/Cas, for example, are also primed to drive progress in the near future. These technologies are giving us the power to understand the impact of the genetic mutations we detect through cancer genomics research in ways that have never been possible before, which is pivotal for developing new strategies for treating cancer. Gene-editing technologies are also being used in a rich area of basic research that promises to deliver new engineered immune cell therapies for both adults and children with cancer.

Researchers are looking to harness advances in technology not only to accelerate the pace of basic research, but also to improve patient care. Liquid biopsies are one technology that are being studied for use in many different ways in the clinic. For example, we are investigating whether we can track the response of pediatric brain cancer patients to therapy through genomic analysis of a small amount of cerebral spinal fluid.

Early detection of cancer is another area in which liquid biopsies could have a major impact, because the earlier a cancer is detected the more likely it is that it can be treated successfully. There are still a lot of questions to be answered and barriers to overcome if we are to realize this potential use of liquid biopsies, but I believe we will get there.

If we are to encourage the cross-disciplinary team science approach to cancer research that is key for igniting technological innovation and advances against all pediatric and adult cancers, we need robust annual increases in federal funding for research. These resources are vital if we are pave the way for the next major breakthroughs that will transform patient care.

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