What should you consider when selecting genetic testing for a patient suspected to have a rare inherited disease? During this webinar, our molecular geneticists Jennifer Schleit, PhD, and Lucia Guidugli, PhD, will present some of their most challenging cases, will walk you through each step of the analysis process, and describe how they arrived at a specific molecular diagnosis.
Many patients with a rare inherited disease may endure a long diagnostic odyssey, receiving several inconclusive genetic tests before arriving at a diagnosis. Patients with complex genetic diseases often have multiple differential diagnoses or suspected variants in difficult-to-sequence regions which can be challenging from a clinical evaluation point of view, both in terms of test selection and technological solutions. This requires tailoring of the sequencing technology and custom solutions from the laboratory performing the testing as well as a dedicated clinical interpretation team that goes above and beyond to compile evidence supporting or refuting the pathogenicity of the variants identified.
This webinar reviews:
- The clinical importance of including both CNV analysis and deep-intronic, noncoding variants in your test selection
- Tailoring of the sequencing technology and custom solutions to improve the clinical sensitivity of difficult-to-sequence regions
- The diagnostic performance of high-quality WES in patient cases with no obvious diagnosis
- Using the genotype-first approach, analyzing candidate genes and identifying rare diseases that are not well recognized
In this webinar our molecular geneticists cover patient cases diagnosed with the following tests:
- Retinal Dystrophy Panel
- Bardet-Biedl Syndrome Panel
- Autoinflammatory Syndrome Panel
- PHEX single gene test
- Joubert Syndrome Panel
- Comprehensive Hearing Loss and Deafness Panel
- Whole Exome Sequencing
Part II of this webinar will be held in August 2019.
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Jennifer Schleit, PhD, FACMG, received a PhD in pathology from the University of Washington in Seattle. She completed a clinical fellowship at the University of Washington and received her certification in clinical molecular genetics from the American Board of Medical Genetics and Genomics (ABMGG). Dr Schleit served as an Assistant Director at the Center for Precision Diagnostics at the University of Washington before accepting a position as senior geneticist at Blueprint Genetics in 2017. Her last position at Blueprint Genetics was as Laboratory Director of the Seattle facility until September 2022.
Lucia Guidugli, PhD, FACMG, is a molecular geneticist at Blueprint Genetics. She has a strong experience in characterizing variants of unknown significance (VUS) through the use of standardized models. Lucia has completed her ABMGG clinical molecular genetics fellowship at the University of Chicago.