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Integration, innovation, precision: Propelling leading-edge diagnostics

Collaborating around patient need
Underpinning innovation at Mayo Clinic Laboratories is a unique ecosystem of integration. A network of laboratory scientists and bedside physicians collaborates to translate scientific discoveries into real-world tools that save patients’ lives.
“The clinician is limited when they don't have a good diagnostic test,” says Dr. John Mills, co-director of the Clinical Neuroimmunology Laboratory at Mayo Clinic. “There are many situations where clinically deciding if a patient has disease A or disease B is extremely challenging, and without lab tools to help them make those decisions, they can't provide the best care possible.”
At Mayo Clinic, the individuals developing tests in the Clinical Neuroimmunology Laboratory are a mix of laboratorians, clinicians, and doctors who perform both jobs.
“There is a sort of natural communication between the clinic because the individuals are the same ... and having that crossover really keeps that momentum going,” says Dr. Andrew McKeon, co-director of the Clinical Neuroimmunology Laboratory.
Treating patients with autoimmune neurological disorders in the clinic often reveals things not seen before, says Dr. McKeon, who is also a bedside physician. “And that will lead to research questions. Or you might see a test result that seems unusual, and that may lead to questions around whether there are things we can improve in the lab in terms of how we test for a particular antibody. Then, on the lab side, we may engage with an ordering clinician who has a question about an antibody and its significance that we just didn’t think of.”
The interaction between the lab and the practice is a key component of developing patient-centric laboratory testing, Dr. Mills adds. “It helps us identify areas for discovery, get access to samples, ask the right questions, develop the right tests, and really is the reason we're able to translate these discoveries before many other laboratories.”
Asking the right questions is central to Mayo Clinic Laboratories’ innovation strategy.
“The value of integration is that we’re always asking questions for patients: are we barking up the right tree, do we have the right test for that, do we have to create something new?” says William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories. “Sometimes the right questions can’t be answered. We realize that we don’t have the right tests to really evaluate for something. So that is what spurs the innovation.”
Harnessing the power of science
Since Mayo Clinic Laboratories was established in the early 1980s, neuroimmunology researchers have pushed the envelope on what is known about autoimmune neurological illness. Translation of discoveries into testing for autoimmune neurological disease was made possible with the creation of the Clinical Neuroimmunology Laboratory in 1989.
Since its founding, the lab has advanced the field by discovering antibodies associated with rare autoimmune neurological conditions, such as neuromyelitis optica, stiff person syndrome, myasthenia gravis, and paraneoplastic disorders. But there is more work to be done.
“The field of autoimmune neurology is really still in its early stages,” Dr. Mills says. “New novel biomarkers are discovered almost on a monthly basis. And so that really impacts how the lab operates — there's always new tests and new analytes to offer.”
In the Clinical Neuroimmunology Laboratory, physicians and scientists have discovered and are on constant lookout for new antibodies. When new, relevant antibodies are identified, the discoveries are quickly implemented into assays, Dr. Mills says.
“We try to implement the new tests at the same time as the field evolves,” Dr. Mills adds. “The main driver for that is once we’ve discovered a test that has a clinical utility that we know can help patients, we want to get it to them as soon as possible.”
At present, of the 30-plus antibodies the neuroimmunology lab has tests for, more than five are only available at Mayo Clinic Laboratories because they are new or rare discoveries, Dr. Mills adds. Since newly discovered antibodies are continually added to the lab’s portfolio of autoimmune testing conditions, the lab’s testing is the most comprehensive available.
“That's something we pride ourselves on, is to constantly be at the forefront providing these novel antibodies as soon as we can, once they've been clinically validated. And that really has driven the field forward,” Dr. Mills says.
Changing lives with advanced and esoteric tools
The autoimmune movement disorders panel is an example of an assay that has evolved to align with changing science. Launched in the early 2000s, the test looks for more than 20 antibodies associated with autoimmune illnesses that impact an individual’s ability to move. Autoimmune movement disorders and phenomena can occur suddenly or slowly, and involve dizziness, numbness, tingling, pain, muscle seizing, joint stiffness, and other problems. They have differing causes, including cancer, and varying prognosis and treatment options.
Detection of antibody biomarkers provides insights that direct individualized treatment protocols aligned with symptom severity, type of antibody discovered, and the presence or absence of cancer.
The movement disorders test uses a number of methodologies to evaluate for the antibodies, including cell-binding assay, indirect immunofluorescence assay, radioimmunoassay, Western blot, and immunoblot.
When patient samples arrive in the laboratory, they are transferred onto slides that contain different types of mouse control tissues, including brain, kidney, and gut. After the slides have incubated, they are viewed under an immunofluorescence microscope by clinical laboratory technicians.
“As part of our training, we memorize a variety of tissue staining patterns that signify which antibody a patient might have,” says clinical laboratory technician Steven Brady. “If a positive result is suspected, it is moved to the consultants and lab directors for further review.”
“When these patients develop their autoantibodies, they cannot move, they are bedridden and can’t function day to day and their lives have completely changed,” Brady says. “And we can help provide them an answer and a path forward to get them back into their normal life. It’s amazing to see the work that we’re doing can actually recover somebody’s life and put them back into society, back with their family, back doing what they love to do.”
The Mayo Clinic values, which include healing, teamwork, innovation, excellence, stewardship, integrity, and respect, are exemplified by Mayo Clinic Laboratories, says Dr. McKeon.
“For me, there's really no difference between what's done through Mayo Clinical Laboratories and what's done in the clinic itself,” Dr. McKeon says. “Patients who receive testing through Mayo Clinic Laboratories really get the very best care, including for neurology. Patients are getting the most up-to-date, the most cutting-edge, but also well-validated tests for autoimmune neurology available.”
Learn more about Autoimmune Neurology Testing at Mayo Clinic Laboratories.
Check out the next installment of “Life of a Specimen,” where we learn how antibody clues in one patient’s blood and spinal cord fluid pinpointed a diagnosis and opened a door to treatment.
This article firs appeared on the Mayo Clinic Laboratories blog.