Rare Epilepsy Network
Matched Genetic Counseling Student:
Susanna (Suzi) Birnbaum is originally from the suburbs of Philadelphia and graduated from Muhlenberg College in 2018, and the Master of Bioethics program at the University of Pennsylvania in 2021. She is currently a first year genetic counseling student at the University of Pennsylvania. Since arriving at Penn, Suzi has observed at the Trisomy 21 clinic at CHOP and worked with the Rare Epilepsy Network (REN) for her patient advocacy project and has enjoyed both experiences immensely.
Student Initiatives:
● While interning at REN, Suzi proposed to reach out to clinical diagnostic labs to see if she could get REN’s website link added to epilepsy panel reports.
● Previously one of Suzi’s classmates, Apurba Mainali, made an informational sheet titled “Genetic Testing for the Epilepsies” that Suzi then distributed (along with REN’s website link) to US genetic counseling programs.
The project(s) you worked on
● Suzi ended up reaching out to 14 clinical laboratories that offer panel testing for the epilepsies. These efforts led to one lab, Invitae ™ being open to adding the REN link to their report materials for a portion of the positive epilepsy panel results! She also gathered valuable information about the report writing workflow in these labs and why labs may not be able to add links to their panel reports.
● Additionally, Suzi also reached out to 35 out of 50 genetic counseling programs in the US. Happily, 10 programs responded positively to the REN information sheet and link. This was a rewarding and encouraging experience.
● Finally, Suzi wrote about her experiences that will be distributed in either blog or newsletter format to the REN partners and members so that they can learn more about outreach to clinical diagnostic laboratories and genetic counseling programs.
Proposed Project8 Foundation projects:
Working with Professional development groups and genetic testing companies to inform them about REN and the different diseases that belong to the network.
Apurba Mainali is a first-year student at the University of Pennsylvania’s Genetic Counseling program.
Project:
While interning with the Rare Epilepsy Network, Apurba created a family-centered written information sheet that addresses many questions, including: What is genetic testing and why is it important for patients with epilepsy? What kind of genetic testing is available for patients with epilepsy? What does the genetic report mean? What are the next steps after genetic testing results are received?