Webinars Tackling Uncertainty Around a VUS April 01, 2021 In our annual VUS webinar, we will review how variants are classified and provide further guidance on what providers can do to advance reclassification. Case examples, recent publications, and current guidelines around VUS will be discussed as well. Read more
Webinars Navigating Genetic Diagnostics for Hereditary Hearing Loss March 10, 2021 In this educational webinar, we will review molecular causes of hearing loss and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions. Read more
Publications Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients March 15, 2021 Publication The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. In this study, our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world. Read more
Insights Challenges in confirming a diagnosis in skeletal dysplasia March 15, 2021 Interview Given the considerable phenotypic overlap among the over 450 skeletal dysplasias and growth disorders, establishing the precise diagnosis can be a challenge. We looked at over 500 cases from 3 commonly ordered panels in this disease group and recognized key elements to consider that contribute to establishing a molecular diagnosis. Read more
Webinars Resolving Diagnostic Challenges in Skeletal Dysplasia – A Clinical Overview January 28, 2021 In this educational webinar, led by Dr Melita Irving, we will see how the combination of clinical and radiographic characterization with genetic testing creates a high diagnostic yield for patients with skeletal dysplasia. Case examples will be presented to review clinical considerations. Emerging opportunities in therapeutics targets will also be discussed. Read more
Webinars In Focus: Complex Genetic Regions in Clinical Diagnostics January 14, 2021 In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions. Read more
Webinars From Data to Insights: How WES Variants are Interpreted and Classified December 21, 2020 During this educational webinar, Senior Geneticist Dr Kirsty Wells and Laboratory Director Dr Jennifer Schleit will provide an overview of the analysis and interpretation process with a focus on exome analysis. From data analysis to variant interpretation, we will describe how the patient’s genetic information is decoded to provide actionable insights to guide medical management. Read more
Videos Video: The Rapidly Evolving Field of Retinal Genetics January 13, 2021 We spoke with Dr Reddy about how she utilizes genetic testing when caring for patients with an ophthalmologic disorder and what she looks for in a test. She provides insight into the positive effects of ordering genetic testing for her patients and discusses the benefits of the My Retina Tracker Program, an open access genetic testing program for patients in the US with inherited retinal disease. Finally, she shares her thoughts on what the future of ophthalmology will look like and the role that genetic testing plays. Read more
Webinars Renal Genetics: What Genetics Professionals Need to Know About This Rapidly Evolving Subspecialty November 17, 2020 In this educational webinar, Dr Xiangling Wang, MD, PhD, will discuss the important role of genetics in the diagnosis of kidney disease. The webinar aims to improve clinicians’ and researchers’ understanding of genetic kidney disorders to help their daily practice. Read more
