Founded in 2017, Mayo Clinic's Advanced Diagnostics Laboratory (ADL) is a visionary space designed to continue Mayo Clinic’s long tradition of pioneering revolutionary diagnostics to guide progressive patient care. The lab’s mission is to foster innovation across different specialties through guiding centralized grassroot in-house innovation to support evolving clinical testing needs and partnering with external companies for early access to emerging technologies. ADL’s inaugural project as a part of this goal was the development of the Mayo Complete Solid Tumor Panel (Mayo ID: MCSTP). This next-generation sequencing (NGS) oncology assay, implemented in 2021, is revolutionary in its design to interrogate, sequence, and copy alterations in 515 genes with implications in patient diagnosis and treatment for multiple cancer types.

Previous to this technology, gene alterations were assessed across numerous individual assays, often sequentially ordered and frequently restricted by limited tissue volumes, resulting in increased costs and much longer turnaround times for patient care. “Before we started working on this comprehensive cancer panel, we had disease specific panels for lung cancer, and melanoma and colorectal cancer, among others, and we were only testing a small number of genes," says ADL Operations Manager Jesse Voss. "These smaller panels assessed samples for very simple mutations called single nucleotide variations (SNV), or insertion-deletion events, also called INDELs.”

Voss continues, “What made this comprehensive cancer panel so progressive is, not only could we look at SNVs and INDELs, but we could also look at copy number variations, microsatellite instability, tumor mutation burden, and gene fusions simultaneously. We are now able to test for all these abnormalities at once and package them into a single test, which had never been done before at Mayo Clinic.”

By combining many different panels into one workflow, there is no longer a need to order a cluster of separate tests and wait for the results from each one.

Improving the quality of patient care

The Mayo Complete Solid Tumor Panel has now become one of Mayo Clinic’s most highly ordered oncology tests, both internally and by oncologists throughout the country because of its comprehensive nature. “It's essentially changed the way that oncologists can manage and treat their patients, simplifying the practice needs through the ordering of one single test code, rather than having to order multiple independent smaller panels,” Voss says.

Kevin Halling, M.D., Ph.D., a consultant in within the Mayo Clinic Department of Laboratory Medicine and Pathology's (DLMP) Division of Laboratory Genetics and Genomics, led the team that validated the Mayo Complete Solid Tumor Panel for clinical practice once the initial developmental stage was completed by the ADL. “This particular test is primarily focused on picking the right therapy, the right cancer medications, based on the type of genetic alterations we're seeing in the tumor. And so that's the first and foremost value of the test,” Dr. Halling says. “But secondarily, we sometimes get some information that helps us make the correct diagnosis for the tumor type. And sometimes there's information that we get that will predict the patient's prognosis. So it has value in all these three areas. But this test was primarily designed to help guide targeted therapies and immunotherapies.”   

The Mayo Complete Solid Tumor Panel was also designed to detect genetic changes that allow patients to be entered into clinical trials, an important avenue to explore which new drug therapies will work for specific tumor types. “There are a lot of clinical trials for cancer drugs, but to enter the patients, oftentimes you need to know what genetic changes were present in the tumor,” Dr. Halling says. “When we generate a report, of course we list the genetic changes that we've seen in the tumor, and if there's no FDA-approved therapy, we will indicate if there is a clinical trial available. And then we'll indicate where the clinical trials are being held. Occasionally it's at Mayo, but it could be anywhere across the country. And so I think the clinicians really like that we do this.”

Since its clinical implementation in 2021, the Mayo Complete Solid Tumor Panel has been even further expanded. "What we have done recently is we've improved our ability to detect copy number variants," Dr. Halling says. "These refer to regions of amplification or deletions in the cancer-related genes analyzed by the assay. And those also can be helpful for therapy, diagnosis, and prognosis.”

While the original cancer panel, as aforementioned, looked for amplifications of 59 genes, which did not include deletions, the updated panel looks for amplifications in 96 genes, homozygous deletions in 132 genes, and biallelic inactivation of 30 genes. “It was a big, big job,” Dr. Halling says. “It took us a little over a year to properly validate it. And so, we just went live with it in April 2024.”

Multiple projects, multiple disciplines

The successful development and implementation of the Mayo Complete Solid Tumor Panel was completed despite the unprecedented disruptions of the COVID-19 pandemic, which transitioned nearly all of ADL’s resources to help develop more than 19 different tests alone for the virus. “This is definitely one of our biggest success stories, and it exemplifies the value of the ADL toward Mayo’s progressive testing needs for patients,” Voss says. “It’s something that's gone from a grassroots idea to one of the primary oncology tests offered that can impact a wide spectrum of cancer patients.”

Although the Mayo Complete Solid Tumor Panel was developed internally at Mayo Clinic, the ADL also continues to work with external partners and innovators. For example, over 50% of the lab’s current projects involve external collaborators, either from industry or other academic institutions.

“When you walk into the ADL in One Discovery Square, we have a display of logos from at least 30 companies and external academic collaborators that we've worked with recently, and that list continues to grow,” Voss says. “We're looking to expand laboratory diagnostics into the new frontier, providing powerful solutions for evolving patient testing needs. The ADL will continue to impact lives by remaining innovative and alert to emerging technologies, to bring advanced testing and services to our patients, both within the clinical practice and to the patients we serve through Mayo Collaborative Services. We hope to share more of these successes in the near future.”

Learn more by taking a virtual tour of the ADL here.