In a #genetictesting study of >1M #patients, 80% of VUS were reclassified as likely benign/benign, using @Invitae's incomparable #Sherloc variant classification system, w/ @Invitae's #AI-powered, #MachineLearning-trained #EvidenceModelingPlatform (#EMP) & validated on data from >4M #patients, "...essential for optimizing...#genetictesting results... [reporting] and next steps...".
This reaffirms that, "VUSs...should not be used as a basis for clinical decisions regarding #patient care," & do not represent an obstacle to #universal #germlinetesting
https://t.co/0SD4peftnP @EurUrolOncol
https://t.co/SgTcYUTOyW
https://t.co/9jwlQvyXfQ @JAMANetworkOpen
#access #reducedisparities #cancer #raredisease #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
@CathyHerbrand@nicky_hudson@PascalBorry@ParryBronwyn@PET_BioNews Hi Cathy, this is really exciting. Our team works in the preconception population space and are noticing a lower uptake of ECS than we expected. Would love to pick your brain on this topic and your experiences, we are wondering if there is a better approach??
Being a carrier is usually invisible, which is why carrier screening is so important for family planning. Learn more about how carrier screening can help identify risks early on & make informed decisions about your genetic health. #CarrierScreening#GeneticHealth
Check out the new evidence-based practice guideline recommending expanded carrier screening be made available to all individuals considering reproduction and all pregnant pairs, regardless of their ancestry. Learn more about these guidelines here: https://t.co/zQppp38568
@GeneGrayDNA Great question - would also like to know if they a panel is being ordered and how much/if it overlaps with Baylor PreSeek NIPT for the 30 gene disorders.
Short, sweet, and to the point 🙃Check out the blog on psychiatric genetic counselling alongside the jar model described by some amazing students on our team! https://t.co/A3x5wLpwFj #GeneticCounselling#GeneChat#PatientCare
👋 top 0.5% of all listeners here. Thanks @NoahKahan for spending 1,128 minutes with me in 2022. I couldn’t stop listening to Stick Season. #SpotifyWrapped https://t.co/UOhFUfgvLt
"In genetics we never say never, and we never say always" - this is it, one of the most important messages in genetic counselling, across all specialties.
Huge shout out to @GreenwoodGenCtr and @DNApodcast!
Interested in #epigenetics and how it's helping patients right now? Check out GGC's Ray Louie and Kellie Walden on the latest @DNApodcast! Listen wherever you find your favorite podcasts! #EpiSign