Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC

Published September 11, 2025 In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, discuss troublesome organisms making headlines. Together, they explore:Vibrio vulnificus (01:09): How people get this “flesh-eating” bacteria, how it affects patients, and a recent case that brought it into the spotlight.Staying safe (03:44): Discover when to seek medical attention and how knowledge can protect you as Vibrio vulnificus bacterium becomes more prevalent. New World screwworm (06:50): How this parasitic infection damages human tissue, how it was previously eradicated, and why it's making the news again. ABCs of protection (12:16): A simple reminder to avoid exposure, use bug spray, and wear protective clothing to shield against hazardous organisms.Laboratory as first line of defense (13:34): Laboratorians have a critical role in identification and monitoring broader trends when these types of cases arise. ResourcesA-Zs for prevention and exposure risks

Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC, explain how Mayo Clinic Laboratories' WESPR whole exome sequencing reflex test provides cost-effective diagnosis of complex genetic conditions. Using samples and data from previous targeted gene panels, WESPR's wider net can identify undetected genetic variants.(00:32) Would each of you share a little bit about yourselves and your background? (01:42)Could you provide us with an overview of the whole exome reflexing panel? (02:53) Is this different from our whole exome sequencing panel and our whole exome reanalysis panel? (04:00) Tell us more about who benefits from this test. (06:17) What is the clinical utility of this testing? (08:07)Would you help providers understand how to go about ordering? (11:23)Could you tell us more about the types of variants identified by this test? (13:39)Based on those performance characteristics, how does our test match up to other exome tests available in the market? (14:30)Are there any other unique features you would like to highlight? (15:57)What is the turnaround time for the reflex panel? (16:14)Can the results from the WESPR test be reanalyzed in the future as new genetic knowledge emerges? (16:56)How are variants reported, especially variants of uncertain significance? And does the report include recommendations? (19:31)Would you summarize the benefits of the WESPR at Mayo Clinic Laboratories?

Published August 28, 2025 In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and Matthew Binnicker, Ph.D., a microbiologist and virologist and chief scientific officer of Mayo Clinic Laboratories, discuss recent developments in viral infections. Together, they explore:Shope papilloma virus in rabbits (01:05): Unusual growths raise concern, though the virus poses minimal risk to humans and has actually benefitted research for other papilloma viruses. Chikungunya virus (07:07): What it is, how it spreads, who is at risk, and best practices for testing. Back-to-school viral trends (12:19): Common viruses that circulate during the school season, tips for keeping kids safe, and guidance for physicians on when to test. The laboratorian’s role (18:27): How laboratory professionals contribute to managing viral infections within hospital systems and the broader community.ResourcesForbes article: Is the ‘zombie rabbits’ virus a threat to humans?Mosquito-borne disease testing overviewMosquito-borne testing algorithms and interpretationsSearch our test catalog for more on testing for viral infections

Published August 14, 2025 In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, discuss recent news about the use of artificial intelligence (AI) tools in healthcare. Together, they explore:Applications of AI tools in clinical diagnostics to identify dementia, cardiovascular conditions, and parasites.Ethical considerations, including global disparities in access to AI tools and environmental impacts.ResourcesUse of artificial intelligence and digital slide scanning for detection of intestinal protozoa in trichrome-stained stool specimensMayo Clinic's AI tool identifies 9 dementia types, including Alzheimer's, with one scanAI computing power is splitting the world into haves and have-nots - The New York Times

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by Elitza Theel, Ph.D., director of the Infectious Diseases Serology Laboratory at Mayo Clinic, for a timely discussion on tick-borne diseases. Topics covered include:Observations from this year’s tick season as we approach the end of July — a peak month for tick-borne disease transmission — along with trends in reported tick-borne pathogens over the past two decades.Algorithms developed by Mayo Clinic to guide clinicians in selecting the right tests for tick-borne and mosquito-borne diseases. The emergence of rare and esoteric infections and the challenges posed by vectors that carry and transmit multiple pathogens in a single bite.Shotgun metagenomics’ growing role in the diagnosis of vector-borne infections.More resources Read "Update on North American tick-borne diseases and how to diagnose them" in the Journal of Clinical Microbiology for more insights from Drs. Pritt and Theel. You can also explore tools and information from Mayo Clinic Laboratories, including region-specific details, algorithms, prevention tools, and more. 

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, discuss summertime illnesses and key insights from a recent diagnostic investment event. Together, they explore:Common summertime illnesses, along with tips for prevention. How investment in diagnostic tools influences innovation in the laboratory.The potential impact of growing interest in AI investments. The investment interest in liquid biopsy and its potential implications for clinical decision-making.How AI development may accelerate adoption of mass spectrometry, proteomics, and similar advancements in clinical laboratories. 

Linda Hasadsri, M.D., Ph.D., and Huong Cabral, M.S., CGC, explain how Mayo Clinic Laboratories' expanded test panel captures rarer as well as more common genetic causes of hereditary pancreatitis. That information is key to managing patients' enhanced risk for pancreatic cancer.(00:32) Could you both please tell us a little bit about yourself and your background? (02:23) Could you please give the audience a brief overview of this assay?  (03:53) Which patients should have this test, and when should it be performed? (04:49) What alternative testing options are available, and how do these compare to the new, expanded panel that we're going to be offering? (08:20)How are the results used in patient care?

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, share insights from industry news and recent conferences, including PlatforMed. They explore:The significant interest in diagnostics for the advancement of cancer care.The Joint Commission’s collaboration with the Coalition for Health AI to establish guidelines for the responsible use of artificial intelligence. The growing understanding that platforms offer an opportunity to expand access and make knowledge more accessible as platform-driven solutions become a reality.The role of laboratorians in guiding the ethical and effective use of data and emerging technologies — and what this means for educating future healthcare professionals.The critical importance of values and ethics in deploying new tools.

Joshua Bornhorst, Ph.D., explains how Mayo Clinic Laboratories' labile copper assay (Mayo ID: LBCS) improves upon standard blood tests for Wilson's disease. The new test measures not just overall copper but also the fraction of copper that is bioavailable, or labile bound.(00:32) Can you tell us a little bit about yourself and your background? (01:33) Could you give us a brief overview of this assay? (02:47) Which patients should have this testing, and when should it be performed? (03:48) How would the results be used in patient care?

John Lieske, M.D., and Sandra Taler, M.D., explain how Mayo Clinic Laboratories' mass spectrometry assay helps evaluate patients for resistant hypertension. The test detects antihypertensive medications in urine, providing evidence of whether patients are absorbing their medications or whether a new treatment approach might be needed. Speaker 3: (00:33) Could you tell us a little about yourselves and your backgrounds? Speaker 3: (01:41) Dr. Taler, could you provide us with a brief background on resistant hypertension? Speaker 3: (03:43) Can you provide a little bit more background on patients who aren't taking their medications? Speaker 3: (05:11) How do physicians currently assess whether patients are taking their medications? Speaker 3: (07:03) Dr. Lieske, could you tell us how this new assay can be used to help physicians manage their patients with hypertension? Speaker 3: (09:43) Dr. Taler, can you tell us how doctors can use this new testing to manage their patients?