Genetics

In the last decade or so, genetic testing has evolved from single-gene Sanger based assays to much more complex next-generation sequencing (NGS) based assays. This incredible technology has facilitated the rapid and high-throughput evaluation of many genes (hundreds of thousands of DNA strands) all at once.

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.

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.

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.

Mayo Medical Laboratories is the first clinical laboratory to offer postmortem genetic tests for inheritable cardiovascular disorders on formalin-fixed paraffin-embedded (FFPE) tissue as a preferred sample type.

This week’s Research Roundup highlights patterns of homozygosity in patients with uniparental disomy with detection rate and suggested reporting thresholds for SNP microarrays.