#206 Phenotypically-Driven Clinical Results with Dr. Lora Bean

Dr. Lora Bean gives an overview of phenotypically-driven clinical results in this episode of DNA Today! Dr. Lora Bean is a clinical molecular geneticist who currently serves as the Senior Director of Quality Assurance at PerkinElmer Genomics. Dr. Bean has expertise in traditional clinical molecular testing as well as newer techniques such as next generation exome and genome sequencing. She has served as a molecular editor for GeneReviews and as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the ABMGG, and is currently a laboratory inspector and a Biochemical and Molecular Genetics Committee member for the College of American Pathologists. Previously, she served as an Associate Professor in the Department of Human Genetics and Senior Director and Regulatory Director of the EGL Genetics (formerly Emory Genetics Laboratory) Molecular Diagnostic Laboratory. Dr. Bean earned her PhD in the Department of Human Genetics at Case Western Reserve University and completed a postdoctoral fellowship at Emory University. She is board-certified by the American Board of Medical Genetics and Genomics and a fellow of the American College of Medical Genetics. On This Episode We Discuss: Differences between gene panels, exome, and genome sequencing Adapting workflows from exome to genome utilizing existing frameworks Advantages of different types of testing Limiting the floodgates of variants that inevitably come with whole genome sequencing Helpful information for providers to include with specimens to guide the laboratory when the data are analyzed The role of phenotypic data specifically in classification of sequence variants Deep intronic variants Kira was off by one, but Dr. Bean was right, ACMG has 73 genes on the list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). If you found the topics that we discussed on this episode interesting, check out this recorded presentation from Dr. Bean entitled, “Why Bigger Isn’t Only VOUSier.” Learn more about phenotypically-driven clinical results at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today on October 21st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. When Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), her mother, Amber was told to love and care for Willow but that there was no cure for this terrible fatal condition. Amber set out to find and fund the cure for MSD. That’s when she started the United Multiple Sulfatase Deficiency Foundation. She shares this personal experience on Episode 205 of DNA Today including how this affected her family and the relationships she has built with other families in the MSD community. (SPONSORED) TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)