No more Nancys - Why I joined GenomeSmart

1. No more Nancys - Why I joined GenomeSmart Shannon Kieran, CGC, EVP, GenomeSmart After more than a decade of caring for cancer patients as their genetic counselor, I reached a point of great frustration. All of my patients were battling cancer. We were using genetics to learn about their hereditary cancer risk but for the patient in front of me, I knew we had missed an opportunity. We had failed to put genetics to its highest value use: as a risk analysis and recommendation tool to prevent or better detect early-stage cancers. Patients were often not aware of how genetic testing could have informed them about their cancer risk. And neither were the primary care physicians who took care of them. Genetic testing came up once they needed an oncologist. Nancy’s story While there were many patients, I will always remember Nancy. I first met Nancy when she was 48 years old and had just been diagnosed with stage III colon cancer with a poor prognosis. Her doctors had referred her to me for genetic counseling because of her young age at diagnosis. When she arrived at her appointment, she was already internet-educated on Lynch syndrome (also known as Hereditary Non-Polyposis Colorectal Cancer or NPCC) and ready to talk about genetic testing. She was up for anything that could improve her understanding of why she got cancer so young, and how she could best fight it to see another decade (or three or four). So when I started to ask questions about her family history, I was surprised to hear that her mother had a long history of having polyps removed from her gastrointestinal tract. Genetic testing leading to the reveal of her inherited APC gene mutation years earlier could have ensured that Nancy was screened and treated appropriately for any pre-cancerous polyps, and most likely avoided her diagnosis. I wanted to do better for Nancy and felt overwhelmed at the scale of the problem we faced trying to get genetics to be routine in primary care. For me, it wasn’t just about Nancy. I thought about all the people who had come to me and my peers facing end-stage cancer that could have been detected earlier or even prevented. I believed technology was needed to help I decided there must be a way to change this paradigm and I had a belief that technology needed to be a critical part of the solution given the large amounts of data associated with genetics. In 2007 I took action and left full-time clinical work to join a Silicon Valley tech startup on a mission to make genetic testing for common medical conditions (including cancer) affordable and accessible to anyone seeking it. The road ahead was completely unpaved. Since then, I have never wavered in my belief that we need to use genetics at scale, and long before someone is sick, to change both the quality and cost curves in healthcare. I realized years ago that we have the technology to scale genetic testing, but a majority of patients were still not getting the appropriate testing. As long as genetic testing was not part of routine care, I would continue to meet patients for whom it was just too late.

2. Why GenomeSmart I knew a critical challenge was to apply technology to make the pre-test genetic assessment process simple enough that providers, as well as patients, could access accurate information about their genetic risks for disease. For me, this all comes together through my work at GenomeSmart. Our mission is clear: make the process of genetic evaluation simple, accessible, and affordable. Now that we have the sequencing technology to enable fast and affordable sequencing and reputable clinical labs that take genetics from the bench to the bedside, the last mile problem we must solve is making it easier to get the right tests to the right person at the right time- before a cancer diagnosis. GenomeSmart intends to solve this issue. Using technology to rapidly assess and recommend relevant genetic testing will decrease the burden on healthcare providers and help ensure people like Nancy are identified early enough to make a difference. I believe in a future where there will be no more Nancy’s.