How to solve challenging cases? Part I


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, Senior geneticist) and Lucia Guidugli (PhD, Director of molecular genetics), 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 will review:

  • The clinical importance of including both CNV analysis and deep-intronic, non-coding 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

Part II of this webinar will be held in August 2019.

Unable to attend the webinar? By registering, you will receive a link to the recording of the webinar even if you are unable to attend.

Blueprint Academy is an educational resource for healthcare professionals and organizations, patients and the scientific community. We publish informative and empowering content, webinars and white papers from the world of genetics. #geneticknowledge


Jennifer Schleit

Jennifer Schleit

Dr. Jennifer Schleit (PhD, FACMG) received a Bachelor of Science with Honours in Biochemistry and Microbiology from Dalhousie University and a PhD in Pathology from the University of Washington in Seattle, Washington, USA. 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.

Lucia Guidugli

Lucia Guidugli

Lucia Guidugli, PhD, FACMG, is the Director of molecular genetics 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.

Last modified: 05.10.2019