Congrats to Class of 2021 grad Becky Burns, MS, CGC who recently published her Capstone research project!! 🎉Thanks to all the co-authors …bi-nlm-nih-gov.treadwell.idm.oclc.org/35638454/

There are very few things in life that are more reliable than rarechromo.org having a resource for a patient’s rare CNV. Unique you’re the best!

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 🤔

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

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 🤯

.@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! genome.gov/Health/Family-…

Missing her

#GeneChat — We are hiring pediatric genetic counselors at UI Health! DM me if you have questions! uic.csod.com/ux/ats/careers…

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

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

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. ir.genedx.com/news-releases/…

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?

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

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

Hey #GeneChat #GeneChatJobs, my former team at Mass Eye and Ear is hiring an ocular genetic counselor! The Ocular Genomics Institute has an amazing team of genetic counselors, physicians, researchers, and support staff 👁️🧬 partners.taleo.net/careersection/…

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 🤔