GEnetics

For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.

PACE / State of FL - Presentation Recording Coming Soon - This webinar will explore the role of cytology specimens in molecular genetic testing, emphasizing their effectiveness in identifying biomarkers critical for targeted therapies in patients with cancer. Advantages of cytology samples, challenges in specimen adequacy, and how advancements in next-generation sequencing (NGS) have led to improved utilization of cytology samples will be discussed. This discovery has led to enhancing diagnostic accuracy, reducing the need for repeat biopsies, and accelerating personalized cancer treatment, all of which will be highlighted during the webinar.

Jessica Wright, Pharm.D., BCACP, explains how Mayo Clinic Laboratories' 3A5Q test helps determine initial tacrolimus doses for individuals after non-liver organ transplants. Optimal tacrolimus levels are one of the important factors in survival of the transplanted organ.

Justin Fugelsang and Zach Pedowitz have never met. Yet both young men were diagnosed with a rare form of Charcot-Marie-Tooth disease, called sorbitol dehydrogenase (SORD) deficiency, and both found clarity through Mayo Clinic Laboratories' innovative SORD testing. Their journeys inspire resilience, as Justin has channeled his emotions into guitar playing, and Zach has embraced educational leadership.

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 genetic counselors Carrie Lahner, M.S., CGC, and April Studinski Jones, M.S., CGC, to discuss how family medical history can inform genetic testing strategies.

John Logan Black, M.D., explains how Mayo Clinic Laboratories' UGT1A1 tests (Mayo IDs: U1A1Q and UGTFZ) identify genetic variants that increase the risk of potentially life-threatening reactions to irinotecan, a chemotherapy agent.

Dr. Dong Chen and Dr. Sounak Gupta joined the “Becker’s Healthcare Podcast” to discuss the molecular testing space and its important role in personalized cancer treatment. Dr. Chen and Dr. Gupta highlighted the importance of selecting the right molecular tests for patients, the impact of genetic testing on cancer diagnosis and treatment, and how Mayo Clinic Laboratories is helping physicians make informed decisions for the best patient outcomes.

PACE / State of FL - This webinar will delve into the latest ASCO guidelines for selection of germline genetic testing panels for cancer patients. Key topics include the importance of taking and recording a detailed family and personal history, selecting the appropriate genes for testing, and determining when and to whom germline testing should be offered. The session will also address the practical implications of the ASCO guidelines, such as balancing the potential benefits of broader gene panel testing with the risks associated with uncertain results. Additionally, participants will gain insights into the specific technical challenges associated with germline genetic testing in cancer care and risk management.

Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

Thanks to advocacy work by a group of medical experts, including some from Mayo Clinic, the U.S. Department of Health and Human Services now recommends all states screen for infantile Krabbe disease to help save newborn lives.

Ann Moyer, M.D., Ph.D., explains how Mayo Clinic Laboratories' unique genetic tests identify patients at high risk of severe reactions to fluoropyrimidines — a type of chemotherapy drug. Test results can guide clinical decision-making for safer cancer treatment.

In this “Future Direction of Laboratory Medicine” webinar, Maggie DiGuardo, M.D., and Justin Juskewitch, M.D., Ph.D., will review the current knowledge regarding sickle cell disease from its genetic cause to the myriads of effects it can have for affected individuals.