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 👁️🧬

dropping off that big stack of kits after a hard days work >>

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?

Omg, this is a BIG DEAL! Getting parental blood samples for a trio when a pt is inpatient and needs a rapid WGS is so tough. https://t.co/wqlpFrHI8h

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

#GeneChat How long does your clinic wait before ordering WES reanalysis? We typically wait a year, but yield seems so low.

#GeneChat — We are hiring pediatric genetic counselors at @UIHealth! DM me if you have questions!

Missing her

.@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

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.

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

Access to Genetic Counsellors is an issue everywhere. We had many years to plan for the explosion of genomic medicine, but instead we are now trying to play catch up. The mind boggles that GCs can't order genetic tests, but any physician, regardless of genetics training, can 🤯

Got an email from a mother wanting testing for her kids in hopes of clarifying reproductive risk. Their indication is one that could be a 20 min phone call with me + shipping some kits, but instead it’s a 5 month wait to see our physician. We need to pass #HR2144 #AccessToGCs

One year working in Pediatrics and I’ve found so many asymptomatic parents with pathogenic chromosome deletions that I am that convinced I have one… along with so much more of the population than we think 🤔

Congrats to Class of 2021 grad @beckyburns_GC who recently published her Capstone research project!! 🎉Thanks to all the co-authors

There are very few things in life that are more reliable than https://t.co/KbKccGPKtO having a resource for a patient’s rare CNV. @Unique_charity you’re the best!

There is so much important research on the safety and feasibility of pregnancy in TS, but this is the first study to capture the preferences surrounding routes to parenthood from those with TS themselves!

The day I’ve been dreaming of since Fall 2019 has come! My Capstone project was published today and you can read the full text here: https://t.co/9FiUOOn8ar