GEnetics

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.

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- Presentation Recording Coming Soon 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.

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.

Linda Hasadsri, M.D., Ph.D., and Huong T. Cabral, M.S., C.G.C., explain how Mayo Clinic Laboratories' targeted test panel facilitates accurate diagnosis of hereditary pancreatitis, which heightens the risk for pancreatic cancer. Test results can guide cancer monitoring for patients and their families.

Carrie began her career at Mayo Clinic in 2006 as the associate director of the Eisenberg Genomics Education Program. In her current role as a genetic counselor, she employs her skills to educate on genetic test offerings and support MCL’s product management team. Motivated by her family’s experience with a genetic condition, Carrie finds purpose and passion in sparking conversations and fostering understanding about the benefits of genetic testing, striving to make genomics accessible to diverse audiences.

Wei Shen, Ph.D., and Rhianna Urban, M.S., CGC, explain how Mayo Clinic Laboratories' gene panel establishes a diagnosis of Lynch syndrome, which heightens the risk for several cancers. Test results can guide targeted cancer surveillance for patients and their families.

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.

Dr. Linda Hasadsri’s firsthand encounter with the genetic tests she’s helped develop has provided rare insight into testing quality and implications, enhancing their ability to advocate for the value of testing and infusing their work with deep empathy.

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.