Insights Whole Exome Sequencing (WES) guide for patients and families Apr 12, 2018 Guide This guide gives patients and their families information about Whole Exome Sequencing (WES). WES is a genetic test that looks at the genetic information contained in all of our 20,000 genes (and their multiple exons) in one single test.
Insights VUS – the most maligned result in genetic testing Jan 31, 2019 Variants of uncertain significance (VUS) are an aspect of genetic testing that is often seen as a challenge. How do I explain this result to my patient? Does this result change how I manage a patient? Senior geneticist Jennifer Schleit describes why variants are classified as a VUS and what can be done to advance reclassification. Read more
Insights The diagnostic odyssey of ultra-rare diseases: a patient’s perspective Juulia Simonen · Jan 29, 2019 Interview In 1998, Satu Salonen retired from her position as the head of an IT company and began her diagnostic odyssey. It took over five years to find a treatment that helps her cope with her own rare disease. She is now the president of the Finnish Association for Ultra Rare Diseases. Read more
Insights Genetic Testing in Inherited Cardiovascular Conditions – Why is it important? Nov 28, 2018 Guide Inherited cardiovascular conditions affect approximately 1 in 200 people worldwide. They are an important cause of sudden cardiac death in otherwise young, healthy individuals. Genetic testing may directly affect a patient’s medical management and may be the only way to identify their family members who are at increased risk of sudden death. Read more
Insights Shedding light on genes of uncertain significance Julie Hathaway · Nov 27, 2018 Blog In her latest blog, Clinical Liaison Julie Hathaway highlights the ongoing collaborative efforts that are shedding light on genes of uncertain significance. Read more
Insights What are the benefits of choosing Whole Exome Plus test that includes the analysis of del/dups (CNVs)? Oct 31, 2018 According to Genetic Informatics Scientist, Mikko Muona, a Plus analysis including del/dups is essential for whole exome-based diagnostics as it increases the diagnostic yield and can significantly decrease the time required for the diagnostic process. Read more
Insights Whole Exome Sequencing: The incredible advantage of a single test Oct 30, 2018 When should you consider WES for your patient? “Patients with early onset, multiorgan involvement are more likely to have a genetic cause for their symptoms and therefore are more likely to receive a diagnosis through WES”, says Kim Gall, Clinical Liaison at Blueprint Genetics. Read more
