Transforming test results into actionable insights

Joe Mondloch and his wife Sue have existed in a grey area of uncertainty due to the unpredictable autoimmune neurological illness Joe has lived with for the last seven years. Rare, incurable, and debilitating, the newly classified disorder can be hard to manage. But thanks to information and direction provided by a rare disease advocacy group, the Mondlochs sought care at Mayo Clinic and received much more than answers.

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome — somatic mutations in the UBA1 gene of blood cells — was discovered at the National Institutes of Health (NIH) in 2020. Within six months, Mayo Clinic Laboratories was able to add a UBA1 test to the MayoComplete panel, as the team simultaneously worked on a single gene assay to allow doctors to test specifically for UBA1 mutations to screen patients for VEXAS syndrome. The team opted for a droplet digital PCR test — a novel and highly accurate approach to testing for UBA1 gene mutations.

CT scans and hiatal/abdominal ultrasounds could not uncover why, whenever he ate steak, Joseph Ducaji experienced severe stomach problems, itchy hives, chills, and nausea. It took specialized testing from Mayo Clinic to unlock a little-known condition caused by a tick bite (and, no, it’s not Lyme disease).

Since March 2019, Paul Jannetto, Ph.D., director of the Metals Laboratory at Mayo Clinic, along with his colleagues across the enterprise and his laboratory staff, have developed, validated, and implemented an artificial intelligence (AI)-augmented test with algorithms designed to interpret kidney stone FTIR spectra. With more than 90,000 kidney stones analyzed each year at Mayo Clinic, this new AI-assisted test has streamlined lab processes and improved patient care.

It’s been more than three years since a team of specialists and genetic testing by Mayo Clinic Laboratories helped pinpoint the cause of Alexa Lofaro’s failing health. And today, she says she continues to feel “so much better” than she did when she first came to Mayo Clinic.

Almost four years ago, Mayo Clinic launched the Digital Pathology Program, a major pathology initiative. Phase 2 of this multi-phase rollout has recently been completed, which involved the implementation of cutting-edge digital equipment and software, and converting glass slides of patient samples into digital images. The conversion enables pathologists and laboratory technologists to view, store, retrieve, and share medical images more universally, without waiting for glass slides to be retrieved and delivered. This has significantly improved patient care because pathologists can now discuss cases with clinicians and surgeons in real time.

Misdiagnosed with acromegaly, a disease marked by too much growth hormone, and plagued by a host of mysterious health problems from unnecessary medications, Kelly DuBois finally found answers after pharmacogenomic testing from Mayo Clinic Laboratories put her on a path toward healing.

Faced with a population increase and the need to expand both laboratory testing capacity and capabilities, Yuma Regional Medical Center leaned into its relationship with Mayo Clinic Laboratories to gain insights to strengthen community ties, attract new providers, and positively impact patient outcomes.

Since March 2020, the COVID-19 pandemic has had a lasting impact on the lives of millions of people around the world, including the many brave health care workers who risked their own health to provide lifesaving care to those infected by the virus. That care was made possible, in part, by the lasting impact that the pandemic has also had on laboratory testing.

As someone affected by chronic liver disease, Susan Parrott knows how it feels to live in uncertainty. But every few months, the anxiety and doubt that shadow her life fade when Mayo Clinic Laboratories test results confirm her condition is in check and she can continue living life on her own terms.

Mayo Clinic Laboratories expanded movement disorders panel better identifies autoimmune conditions. Four recently identified biomarkers — septin-5, septin-7, neurochondrin, and adaptor protein-3B2 — have been added to the panel, and all four have been shown to respond to immunotherapy.

After what looked like a blemish turned out to be angiosarcoma, a rare, life-threatening cancer of the blood vessels, Alison O'Neill was put on an aggressive treatment plan and regenerative approach to healing made possible by the pathologist who first diagnosed her cancer.