Genomics Impact on Cancer Treatment

The genome is the blueprint of who we are. Breaking it down and truly understanding it will allow us to do amazing things, like precisely target treatments and medications to specific cells in the body. We aren’t there yet, but we’re farther along than we were. In 2003, the first human genome sequence was completed. It was the culmination of 15 years of work by scientists around the world and over $3 billion in funding. A tremendous medical breakthrough, unlocking infinite potential to treat patients around the world, but a costly, time-consuming one. Time is often of the essence, and the children and families who come to Nationwide Children’s Hospital deserve the best possible care. Founded in 2016, the Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) has led the way in dramatically reducing the time, and cost, of genomic sequencing. What once took 15 years to unlock, can now be accomplished in mere hours. Hours that can mean a child starts treatment sooner. Hours that provide answers to a family with more questions than patience. Hours that can bring a family together and restore hope to a once-hopeless situation.

Since 2018, the IGM at Nationwide Children’s has studied more than 400 cancer patients, with 95% of them receiving at least one medically meaningful result. As Nationwide Children’s launches the boldest strategic plan in our 130-year history, this potential to provide better insights to more cancer patients drove us to identify genomics and personalized medicine as one of the plan’s three key pillars, and an area where we’re truly leading the charge. There are three areas on which Nationwide Children’s genomics team will focus on the continuing Journey to Best Outcomes: developing novel genomics-enabled research, advancing genomics-driven precision medicine, and advancing computational genomics and informatics. Working with service lines like fetal surgery, cardiology, and immunology, our scientists will work to develop new programs and potential treatments, driven by what the patient’s genetic code can tell us. This view of how a patient’s genetic code works together allows us to identify which genes are associated with health and disease. Ultimately, the hope is that all this work and research will provide answers in understanding what is happening in the body that causes childhood cancers, birth defects, and rare or undiagnosed genetic diseases. The second area, advancing genomics-driven precision medicine, allows us to put this research into practice. The goal is to increase a patient’s access to new treatments and clinical trials, all made possible by a greater understanding of their genetic code. For those who are still awaiting answers to what may be causing their illness, expansion of the genomics program will allow us to provide rapid genome sequencing to critically ill patients in intensive care units at Nationwide Children’s and our affiliate hospitals. By expanding next-generation sequencing testing to all patients with cancer, we hope to provide targeted, time-sensitive treatment to childhood cancer patients earlier than ever before. All because we have a better understanding of what their genetic code is telling us. Lastly, research and data-driven decision making are at the core of everything we do at Nationwide Children’s. Over the course of this strategic plan, disease specific focus areas will be developed, allowing us to continue to scale our work. We will also do more to create opportunities for cross-disciplinary work, growing collaborations across the department and all of Nationwide Children’s. Genomics offers us the ability to drill down to the most basic structure of what makes us who we are, and to create a plan to address things like childhood cancer at its core. The leap has been made from it taking years to complete a sequence to taking only hours. It’s time to make the next leap, the one into unlocking the questions around cancer, birth defects, and rare and undiagnosed conditions. It’s time to put what we know into widespread use. It’s time, once again, for Nationwide Children’s to lead.

“I think genomics will change the face of pediatrics. We have the opportunity to meld together research and clinical care to offer more tests, more information and more interpretation to our clinicians, which results in better outcomes for kids. In five years, I see genomics being much more rapidly applied.”

– Elaine R. Mardis, PhD, Co-Executive Director, Steve and Cindy Rasmussen Institute for Genomic Medicine

Gene

A gene is a short section of DNA that carries instructions for determining physical traits such as eye color, hair color and height. Air Filter

Each part of a car engine is like a gene.

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Genes carry information passed down from parents to their children.

This information provides the instructions that determine physical features. Sometimes this information can cause diseases.

Genetics

Genetics is the study of how single-gene diseases are transmitted from parents to their children. It’s like examining how an engine was built and what each part does. Keeps dirt and debris from entering the engine.

Genome

The genome is the body’s inner car engine. Its parts — genes — work together to make you unique. A car needs an engine to drive, and your body needs the instructions in your genome to perform the functions that help you grow and live. Fan Air Filter

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Genomics

Genomics is the study of a person’s collection of genes — like looking at a car engine and how its parts work together.

Variant

A variant is when a gene is changed, added, missing or in the wrong place.

Extra parts Missing parts

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Engine Block Exhaust

Changes in the parts of the engine can affect how the car runs.