Relentless innovation

Mayo Clinic Laboratories introduces the Inherited Parkinson’s Disease Gene Panel (Mayo ID: PARDP), a collaborative breakthrough poised to transform Parkinson’s disease diagnosis and treatment. Led by Rodolfo Savica, M.D., Ph.D., and Zhiyv (Neal) Niu, Ph.D., this comprehensive test offers unparalleled insights into Parkinson’s genetics, unveiling novel gene associations and enhancing diagnostic precision through next-generation sequencing. The panel’s capabilities include detecting subtle genetic variations and identifying familial patterns, promising personalized medicine advancements.

Since 1992, cases of colorectal cancer have been on a slow decline, yet 52,550 people died from it in 2023. At Mayo Clinic, a cutting-edge menu of both germline (inherited genetic alterations) and somatic (tumors due to non-inherited genetic alterations) testing are two critical tools helping to improve targeted treatments for colorectal and other common gastrointestinal cancers.

Recognizing the powerful role genes can play in diagnosing illness and guiding treatment, the Division of Laboratory Genetics and Genomics at Mayo Clinic spearheaded a testing expansion, implementing and upgrading more than 60 advanced sequencing and biochemical assays in 2023 and planning for even more this year.

Endometrial cancer affects thousands annually and ranks as the fourth most common cancer among women in the United States. At the forefront of innovative discoveries in endometrial cancer diagnostics are Mayo Clinic's Department of Laboratory Medicine and Pathology consultants. Sounak Gupta, M.B.B.S., Ph.D., vice chair of Oncology Practice for the Division of Laboratory Genetics and Genomics; Maryam Shahi, M.D., senior consultant for Anatomic Pathology; and Andrea Mariani, M.D., M.S., division chair of Gynecologic Surgery, explore the critical significance of molecular profiling and collaborative efforts driving these innovations, highlighting Mayo Clinic’s revolutionary influence on patient care.

For over two decades, Mayo Clinic has been at the forefront of cardiovascular (CV) genetic testing. The current test menu features 24 different panels that span over 300 genes linked to inherited cardiovascular disorders, many of which are rare and challenging to diagnose. Whereas many labs operate in a “silo” — meaning they take a genetic specimen, test it, and then return a result with limited input — Mayo Clinic takes a much more expansive approach.

In a recent discovery by Mayo Clinic Laboratories, a novel hemoglobinopathy category was identified and termed epsilon gamma thalassemia. The first instance of the disorder was found in 2017 when an obstetric patient underwent a routine screening for blood-related illnesses such as sickle cell disease and thalassemia. Upon completion of additional tests, doctors found an abnormality they had never seen before.

Mayo Clinic’s cardiac (CV) remote monitoring service uses the compact MoMe Kardia cardiac monitoring device that yields a continuous, 24/7 stream of a patient’s ECG and motion data, no matter their location. Any troubling or burgeoning events are observed virtually the moment they occur, allowing one of Mayo Clinic’s certified rhythm analysis technicians to intervene and facilitate care in near real time. And this is only the beginning; remote patient services are the way of the future, and the future is already here.

Tying together the expertise and curiosity of Mayo Clinic autoimmune neurology researchers with eager patients who have rare disease and are looking for answers, the innovative collaboration benefits both patients affected by MOGAD and scientists on the front lines of discovery.

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.

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.

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.

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.