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 Polycystic kidney disease (PKD1) case report Feb 28, 2019 Case report This case report describes a 25-year-old female diagnosed with polycystic kidney disease at 4 years of age, and a family history of ADPKD in multiple generations. Read more
Insights Clinical information can lead to finding a variant that might otherwise be missed Feb 28, 2019 Infographic This infographic gives concrete insights into how clinical information impacts successful genetic diagnostics. Read more
Insights Finding your role and purpose within clinical genetics Jussi Paananen · Feb 21, 2019 Blog Developers, software architects, data scientists – the rarest of commodities in the current hot employment market. As an employer, how do you differentiate yourself from all the other interesting opportunities out there? To me, the answer is quite simple, writes Chief Technology Officer Jussi Paananen in his blog. Read more
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
