If you use Epic’s pedigree function, what are the pros/cons? If you don’t use it, why not?
A satellite clinic I staff is looking to phase out hand drawn pedigrees and I’m not sure how feasible that’d be 🤔
Hey #GeneChat#GeneChatJobs, my former team at @MassEyeAndEar is hiring an ocular genetic counselor! The Ocular Genomics Institute has an amazing team of genetic counselors, physicians, researchers, and support staff 👁️🧬 https://t.co/ZGYMaeY6WD
Today is #rarechromoday - a day to celebrate all those living with rare #chromosome and #gene disorders & their families, and to raise awareness. Share our posts, wear blue & yellow & let's loudly and proudly celebrate Uniqueness! #genomics#genetics
My department has extra funding for patient resources and would love to hear any recommendations #GeneChat! Any favorite children’s books about rare disease? Books for parents of newly diagnosed kids?
@rarelikeher I teach rotating medical students about inheritance patterns using a PowerPoint that’s been passed down by other genetic counselors on our team for years. Thanks for the push to edit the “X-linked recessive” and “X-linked dominant” slides. It’s just X-linked, period.
Do you have an undiagnosed patient despite exome sequencing? 🤔
It could be a repeat expansion disorder.
Here are 5 scenarios that should make you think of a repeat expansion disorder in adults. 🧵
#GeneChat#MedTwitter
.@Genome_gov is celebrating #FamilyHealthHistory Day! Knowing more about your family's health can help inform you and your healthcare providers about risk factors and how to stay healthy. Start these important conversations with your family! https://t.co/aSau1mfbIU
Just received my first notification from Invitae that my patient was given immediate access to their test report at their request. I understand this is within patients’ rights. But I’m worried about patients receiving life-changing and/or complex info alone. Thoughts? #GeneChat
Also worried about the effect of this moving forward on my general stress level! I can’t always call results immediately, and I’m not always available to answer patient questions or offer support.