Insights 4 common myths in genetic testing June 22, 2020 Interview Has the incredible growth in genetics left us with some misconceptions about testing? Laboratory Director Jennifer Schleit listed some of the common myths in genetic testing.
Insights Bioinformatics Software Developer – a blend of tech and science April 15, 2021 Careers Sohrab Saraei is convinced that anything can be done “if only you want it enough and work hard for it.” Sohrab joined Blueprint Genetics in 2019 and constantly works hard to keep up with the ever-moving waters of bioinformatics. 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
Insights Genetic Counselor Awareness Day: Educator, advocate, counselor Saara Salonoja · October 28, 2020 Interview Genetic counselors have the expertise to translate complex information to patients and families, assisting them in making the best choice for their specific needs. We asked two genetic counselors how they found their profession, and how they see it evolving. Read more
Insights VUS, the unwanted result? Collaboration between clinicians and laboratories helps lay the foundation for future reclassification Eija Seppälä · June 26, 2020 Blog What can you do to help advance reclassification? In her blog, Senior Geneticist Eija Seppälä lists what to consider when determining how likely it is that a VUS will be reclassified. Read more
Insights Understanding a variant of uncertain significance – take a close look at the interpretation Eija Seppälä · May 29, 2020 Blog As a molecular geneticist, my goal is to minimize the number of VUSs reported as primary findings and ensure that we clearly define those in the report that are the most suspicious and have the greatest potential to be clinically relevant, writes Senior Geneticist Eija Seppälä in her blog. Read more
Insights What to consider when choosing sponsored testing for your patient with an inherited retinal disease December 04, 2019 My Retina Tracker What to consider when choosing sponsored testing for your patient with an inherited retinal disease? This article aims to provide insights about why different quality aspects matter, including the importance of covering difficult-to-sequence regions, as well as having explicit information regarding patient data privacy. Read more
