Molecular Diagnostics Can Transform Cancer Care. Let’s Make It Happen.
Like so many people around the world, my life has been profoundly shaped by cancer. Those personal experiences, along with a deep love of clinical laboratory science and a passion to apply the power of genomics in medicine, motivated me to launch a company that would improve cancer care through better diagnostics. Thirteen years later, I am proud that we are delivering more accurate information at multiple points along the patient journey, with a focus on eight of the 10 cancers that are most commonly diagnosed in the United States.
Two personal anecdotes illustrate the need for more effective diagnostic tests. My father, who had stage 4 lung cancer, died from complications of a needle biopsy procedure conducted to confirm his cancer diagnosis. Following the procedure, he experienced a collapsed lung, a very unfortunate but potential outcome from this type of invasive procedure. He was put on a ventilator that day and died two weeks later. If that’s not a call for less invasive diagnostic testing, I don’t know what is.
My husband was also diagnosed with lung cancer. His doctor recommended a proactive screening program even though he’d quit smoking 25 years earlier. The first CT scan revealed very small nodules. We went back every six months for new scans until one day the doctors said, based on nodule growth and image features, it was very likely he had cancer. They performed surgery to remove the middle lobe of his lung. He never needed additional treatment, and five years later he was cancer-free. It’s a compelling example of the difference an early diagnosis can make.
These and so many other real-world cases serve as a constant reminder that we in the diagnostics field must focus on developing clinical tests that matter — tests that address real healthcare needs. Whether it’s accelerating an accurate diagnosis, delivering more actionable information, providing a less invasive option, or guiding treatment decisions, every diagnostic test should streamline and improve the patient journey in some way. This should be a guiding principle as we strive to demonstrate the clinical value of genomic diagnostics.
A Commitment to Cancer Diagnostics
When we founded Veracyte, our goal was to improve the diagnostic pathway in a broad range of cancers. At that time, biopsies based on anything other than solid tissue often led to diagnoses that were unacceptably ambiguous. Too many people were undergoing invasive procedures to try to get a clearer diagnosis or being treated with unnecessary surgeries for growths that were benign. This isn’t news to anyone in the diagnostics field today, of course, but at the time the insight gave us a clear path forward.
Since then, we have focused on mining rich genomic data sets and using sophisticated analyses to build molecular classifiers that can help rule cancer in or out more quickly, or help determine how best to treat the patient. From thyroid to lung to prostate cancer and many others, we now provide multiple tests that reduce uncertainty and inform next steps at several points in the patient journey, including prognostic and treatment-informing tests.
There are still so many ways for clinical diagnostics to evolve and add even greater value along the patient journey. Even the most cutting-edge tests available today can probably be made better — from less invasive sample types to incorporating more data.
Lung cancer is a prime (and timely) example. The need for a noninvasive test to improve early lung cancer detection is urgent. Approximately 1 million people are sent to the pulmonologist each year due to suspicious lung nodules, and we expect that number to grow since the U.S. Preventive Services Task Force recently expanded its recommendations for who should get lung CT screening. The vast majority of lung nodules are benign. Unfortunately, many people at low risk of cancer undergo invasive procedures, while those with cancer may experience delayed diagnosis and treatment, because physicians lack standard and objective tools to help them determine the likelihood that any given nodule is cancerous.
Later this year, we will launch a new test that can improve early lung cancer assessment based on a simple nasal swab. Clinical validation data for the first-of-its-kind Percepta Nasal Swab test was presented recently at the 2021 American Society of Clinical Oncology (ASCO) Annual Meeting. The test uses advanced genomic and established “field of injury” technology to detect smoking-related damage associated with lung cancer in current or former smokers with suspicious lung nodules using a sample collected from the nasal passage. It is based on a molecular classifier developed with whole-transcriptome RNA sequencing data generated from a training set of more than 1,100 nasal samples. The 502 genes selected for the final algorithm give optimal sensitivity and specificity and were validated in an independent set of nearly 250 patient samples collected across 25 clinical sites. The test can accurately classify patients as low, intermediate or high risk, enabling physicians to take a data-driven approach for recommending routine monitoring or more aggressive procedures.
Based on what we have seen with our molecular classifiers for other types of cancer, we believe this nasal swab test will help patients with benign nodules avoid unnecessary, costly and potentially life-threatening surgeries – and will enable faster diagnosis and treatment for those patients with cancer. When I consider what my father went through, or even the anxiety my husband and I experienced waiting for the results of each new scan, I am encouraged by the ability of this non-invasive nasal swab to provide initial answers and think it will be game-changing.
The clinical diagnostics community has struggled to get other healthcare stakeholders to value diagnostic testing. Even as more and more care decisions are being guided by diagnostic results, our tests have been underappreciated in the broader medical community.
Fortunately, I believe we are finally at an inflection point, driven largely by the COVID-19 pandemic. This global health crisis highlighted the critical role medical testing plays not only in our health but also in our local and global economies, and it gave diagnostic test developers and clinical laboratories long-overdue recognition. There is an opportunity right now — while the iron is still hot — to educate physicians, insurers, government agencies and the general public about the importance of clinical diagnostics in all areas of health.
The onus will be on us, though, to demonstrate the value of these tests. Not all tests are worthy of routine medical use. Those that are should be buttressed by robust clinical validation studies and other data to show the advantages they offer in streamlining clinical decision-making, improving patient outcomes, and reducing healthcare costs.
Bonnie H. Anderson is cofounder and executive chairwoman of Veracyte, a global genomic diagnostics company that improves patient care by providing answers to clinical questions that inform diagnosis and treatment decisions.