Genetics

This week's featured chromosomal microarray test in focus is presented by William Sukov, M.D., a pathologist and cancer geneticist at Mayo Clinic. He discusses when this test should be used for patients with renal tumors.

Newborn screening panels that test for a variety of conditions are available in every state; however, test performance and response rate by each state are very different. Mayo Clinic's Biochemical Genetics Laboratory created the Collaborative Laboratory Integrated Reports tool to mitigate the national (and international) problem of false positives and to raise the bar on test performance.

Ann Moyer, M.D., Ph.D. gives an overview of this new test available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing improves upon other testing approaches, and what clinical action can be taken due to the results of this testing.

PACE / State of CA / State of FL
This month’s “Virtual Lecture” discusses bleeding and clotting disorders with a focus on molecular testing.

PACE
In this month’s “Virtual Lecture,” Kevin Halling, M.D., Ph.D., will review basic cancer genetics concepts and discuss examples of how RNA sequencing can be used to detect clinically relevant alterations in tumors such as gene fusions, point mutations, tumor mutation burden, and gene expression of individual genes or sets of genes.

Dietrich Matern, M.D., Ph.D., Division Chair of Laboratory Genetics in the Department of Laboratory Medicine and Pathology in Rochester, Minnesota, has been appointed as a new director on the board of the American College of Medical Genetics and Genomics (ACMG).

Mayo Clinic's Center for Individualized Medicine (CIM) is nearing the finish line of the first stage of its unique RIGHT 10K study—an effort that doesn't involve running shoes but nevertheless is paving the way to prescribing medications matched to a person’s genetic code.

PACE / State of CA / State of FL
In this month’s “Virtual Lecture,” Katherine Geiersbach, M.D., and Ruifeng (Ray) Guo, M.D., Ph.D., will describe currently available testing offered in Mayo Clinic’s Genomics Laboratory and review the genetics of malignant progression in melanocytic lesions.

This week’s Research Roundup highlights developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant vascular dysplasia characterized by the presence of arteriovenous malformations of the skin, mucosa, and viscera. Linnea Baudhuin, Ph.D., FACMG, Co-Director of the Personalized Genomics Laboratory at Mayo Clinic, provides an overview of the new familial HHT gene panel available through Mayo Medical Laboratories. She discusses which types of patients should be tested, how this approach improves upon previous methods, and what clinical action can be taken from the results of this test.

Genetic testing is like security-camera video footage of a break-in, providing essential clues to identify a culprit. In certain cancers, the "culprit" might be a rearrangement in a person's DNA, which genomic testing can capture. Mayo Clinic has developed a novel group of clinical tests that zoom in on a person's genome to characterize chromosomal rearrangements.

Pharmacogenomic testing is still limited, despite ample research, the existence of guidelines, and the emerging evidence it can help patients. Ann Moyer, M.D., Ph.D., Co-Director of the Personalized Genomics Laboratory at Mayo Clinic in Rochester, Minnesota, makes a case for pharmacogenomics.

Hormone therapy is often used to prevent night sweats. But finding the right dose of estrogen can be tricky, with some women needing more estrogen than others to get relief. A new Mayo Clinic study published in Menopause: The Journal of the North American Menopause Society found that genetic differences appear to play a role in the effectiveness of hormonal treatment for menopausal women.