UPenn / Arcadia U MSGC Program

Happy Friday and welcome to First Year Fridays!

First up, meet Caitlyn Shetland, a first-year from Griswold, CT!

She graduated from the University of Connecticut Honors Program in 2023 with a Bachelor of Science in Molecular and Cell Biology, and a minor in Psychological Sciences.

We asked Caitlyn about her experiences before joining us at Penn and what she felt prepared her most. She said, “I worked for 3 years as a Genetics Clinical Coordinator (GCC) at the Smilow Cancer Genetics and Prevention Program at YNHH. I provided pre-test counseling, coordination of genetic testing, and post-test counseling for patients who tested negative or were found to have variant(s) of uncertain significance. In this role, I worked very closely with cancer GCs, which allowed me to better understand the obstacles that GCs face in clinical practice. My work as a GCC reinforced my desire to become a GC, which will allow me to have more nuanced conversations with patients about genetics and psychosocial challenges.”

So far, Caitlyn’s favorite memory since beginning the Penn MSGC program was book club! “1st and 2nd years got together to speak directly with author Jessica Fein to discuss her book: ‘Break Taking: A Memoir of Family, Dreams and Broken Genes.’ This was an amazing opportunity to better understand how a rare disease diagnosis impacts a whole family.”

We are SO lucky to have Caitlyn in the Penn MSGC Class of 2028. Welcome, Caitlyn!

Every Tuesday morning students, instructors, clinical supervisors, researchers and clinicians attend Penn/CHOP Genetics Grand Rounds to hear a wide array of presentations and discussions about the practice of Genomic Medicine.

This week, members of the Penn Adult Medical Genetics Team including Theodore Drivas, MD, PhD, Assistant Professor of Medicine in Translational Medicine and Human Genetics, and THREE graduates of the UPenn MSGC program – Isaac Elysee, MS, LCGC, (Class of 2021); Laura Hennessy, MS, LCGC (Class of 2021); and Jocelyn Knight, MS, LCGC (Class of 2026) – presented “What We Didn't Know That We Didn't Know.”

Using seven clinical cases to describe how the evolution of genomic technologies has improved diagnostic yield and accuracy for adults with medical conditions caused by a mutation or change in a single specific gene, they demonstrated the value of genetic reevaluation for clinically complex adults. The significance of making a diagnosis includes providing reproductive risk assessments, discussing disease prognosis and surveillance, and making services accessible for these adults.

It’s remarkable to see these advances in genetics and genomic medicine – and to see our graduates shine in their professional careers!

October is Gaucher Disease Awareness Month!

This month, we’re highlighting Caitlin Menello, MS, LCGC, a genetic counselor in the Metabolic Disease Program at Children’s Hospital of Philadelphia.

Caitlin is one of seven genetic counselors in Metabolism and primarily works with individuals and families affected by lysosomal storage disorders, including Gaucher disease. Her role spans many stages of care, from helping families navigate testing and a new diagnosis to discussing familial testing, treatment, long-term management, and family planning.

Swipe through to learn more about Caitlin’s path to metabolic genetic counseling, her role within the multidisciplinary care team, and what she finds most meaningful about supporting patients with Gaucher disease throughout their lives.

As Caitlin shared, “It is a privilege to be a part of the care team that helps my patients navigate all stages of life.”

October 1st is International Gaucher Day!

Gaucher disease is a rare genetic condition that can affect individuals in many different ways. Swipe through to learn more about Gaucher disease, including its genetic cause, common features, and how individuals and families may be impacted.

At the end of this post, we’ve also included resources for individuals and families affected by Gaucher disease, as well as genetic counselors and other healthcare professionals looking to learn more.

Stay tuned for a follow-up post! We’ll be featuring Caitlin Menello, MS, LCGC, a genetic counselor in the Metabolic Disease Program at Children’s Hospital of Philadelphia. Caitlin works closely with individuals and families affected by lysosomal storage disorders, including Gaucher disease. We’ll be sharing more about her path to metabolic genetic counseling, her role in Gaucher disease care, and what it’s like to support patients and families across different stages of life.

We’re excited to report that “Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model” was published this month in the Journal of Genetic Counseling. The article highlights the Genetic Counseling Student Exchange Program, a unique advocacy internship for first year students at the University of Pennsylvania’s MSGC program.

The GCSX is a collaboration between the Penn/CHOP Orphan Disease Center and the UPenn MSGC program and has become an excellent opportunity for GC students to learn from and support the work of rare disease patient advocacy organizations, preparing them for advocacy awareness and roles as practicing GCs.

Authors Lisa Kessler, Marin Kalista, Deborah Requesens, Kathleen Valverde, and Rebecca Mueller, have analyzed and shared the internship experience as a possible model for other GC programs interested in enhancing their advocacy education.

We're ready to meet our Class of 2029! The admissions cycle for 2026-2027 is now open, and you can find the application on our program website at https://www.med.upenn.edu/geneticcounseling/program-application.html.
This link is also in our Linktr.ee.

Today we are celebrating a true GC Queen, Rose Giardine, MS, LCGC, as she prepares to retire. Rose presented Genetics Grand Rounds “My Final Tour - 40 Years of Prenatal Genetics (1986-2026)” this morning to 150+ physicians, fellows, genetic counselors, students, and other clinicians from Penn and CHOP, plus untold numbers watching virtually, many of whom she has taught, and all in awe of her forty-year career in the Department of Obstetrics and Gynecology at the Hospital of the University of Pennsylvania and Pennsylvania Hospital, where she was hired in 1986 as the very first genetic counselor at Penn.

Over the course of her career, she has counseled thousands of women and families, trained hundreds of genetic counseling and medical students (she’s pictured here with Miles and Rylee, her final two GC students), directed courses, given lectures, contributed to research studies, and mentored practicing genetic counselors. She has not only witnessed the evolution of genetic counseling from a fledgling profession to a vital component of almost every medical specialty, she has impacted that development through her practice and teaching.

Her knowledge and her humor will be greatly missed. We hope all she has given comes back to her ten-fold in retirement! 🩷🌹

A good time was had by all (with the possible exception of the Astros fans) at the annual Penn/CHOP Genetics Night at the Phillies game this Wednesday. A big group from Penn and CHOP, including rows of Penn MSGC students, staff, and their friends and families, were treated to perfect weather, an exciting come-from-behind, 11-7 victory fueled by a Grand Slam by current MLB home run leader Kyle Schwarber, and a dramatic lights-out "Durantula" entrance by closer Jhoan Duran.

The Genetic Counseling Education Association has established a waiver program for the $100 fee associated with the NMS Match. Prospective students who demonstrate financial need AND have a cumulative GPA of 3.0 or greater can apply for a match fee waiver and must do so BEFORE registering for an NMS number and paying the registration fee.

Applications for the match fee waiver are due by October 2, 2026.

For more information or to apply, go to: https://natmatch.com/gcadmissions/applicants/register.html.

If you are planning to apply to graduate school in genetic counseling, don’t miss the annual NSGC Prospective Genetic Counselor Student Fair, which will take place on Thursday, September 24 from 12 – 4 PM Eastern time.

This free, virtual event is hosted by the NSGC in collaboration with the Genetic Counselor Educators Association (GCEA). It features a general information session (1PM) and a student panel discussion (2PM) followed by time (2-4PM) to visit Zoom rooms staffed by representatives from dozens of accredited MSGC programs – including the University of Pennsylvania.

Learn more, see the schedule, and register to attend at https://studentfair.nsgc.org/. The link is also in our Linktr.ee.

We hope to see you there!