Genetics

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.

By Barbara J. Toman • March 26, 2024

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.

By Nicole Holman • March 20, 2024

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.

By Barbara J. Toman • March 19, 2024

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.

By Chris Bahnsen • March 13, 2024

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.

By Robin Huiras-Carlson • March 11, 2024

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.

By Robin Huiras-Carlson • February 21, 2024

Robin Huiras-Carlson's connection with Mayo Clinic traces back to her early years, marked by a diagnosis of a rare genetic condition at the age of 10. Today, as a senior marketing specialist with Mayo Clinic Laboratories, she draws inspiration and purpose from this personal journey to illuminate Mayo’s positive impact on patients and ongoing evolution in diagnostics.

By Nicole Holman • February 14, 2024

Multiple doctors and multiple examinations could not figure out why Lauri Sieben had spent much of her life “never feeling quite right” physically. Fortunately for Lauri, that changed after her daughter Christy began working as a genetic counselor in Mayo Clinic’s Molecular Technologies Laboratory. After seeing similarities between the patient testing she was performing for the lab and the physical symptoms being experienced by her mom, Christy took a leading role in getting Lauri to undergo molecular and biochemical testing at Mayo Clinic. The results of that testing not only provided much-needed answers, but a promising path forward for Lauri.

By Cory Pedersen • February 5, 2024

Linnea Baudhuin, Ph.D., and Kate Kotzer, M.S., CGC, describe how Mayo Clinic Laboratories' postmortem genetic tests can provide answers after a sudden unexplained cardiac death. Test results are important for managing family members' risk for cardiovascular disease.

By Barbara J. Toman • December 28, 2023

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

By MCL Education • December 13, 2023

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

By MCL Education • December 4, 2023

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.

By Chris Bahnsen • November 29, 2023

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.

By Luci Gens • June 14, 2023