By Mercedes Zoeteman
While a lot of this blog has dealt with interview preparations and whatnot, I figured it might be time to talk a little bit more about the UNCG Genetic Counseling Program specifically and some of the unique opportunities available to us.
Workshops and Tours
For our GEN 658 Molecular Diagnostics class we have some unique opportunities as a part of it. First and most importantly, we got to go to UNC in Chapel Hill for a Whole Exome Sequencing (WES) workshop in November! It was a three-day (2 full day and 1 half day) workshop where we were given presentations from experts at UNC talking about WES and we even got to try variant interpretation as well! Most notably, we were exposed to NC Genes project, which is a study working to use WES and next-generation technologies for diagnostic odysseys. For example, if an individual has exhausted previous molecular testing with no found explanation, then they may be eligible to participate in this study. We were also given presentations about the NC NEXUS study, which is the North Carolina Newborn Exome Sequencing for Universal Screening program. This is a unique study looking to evaluate the utility of WES as a diagnostic tool for Newborn Screening. There were so many unique presentations that it is hard to explain how amazing this opportunity truly was. We also had our hand at variant analysis using ClinGEN and ClinVar and other variant curation websites, which was surprisingly fun and more difficult than expected. This opportunity is very unique to the program as most often graduate programs do not have access to these types of specialists. I know I am definitely putting this on my CV!
Duke University (about an hour away) is home to one of seven Undiagnosed Diseases Network (UDN) locations in the country!!! The UDN is a research study funded by the NIH which helps provides families with answers to their diagnostic odyssey. Here a family applies to be a part of the study, and if approved, they will have a complete workup by numerous professionals and healthcare experts in the field to hopefully give them an answer they are looking for. Just this year we have the opportunity to go and shadow the UDN for a day, which is such a cool opportunity. Those of us who have gone and reported amazing things, and I know I got goosebumps a time or two while I was there.
We also had the opportunity to go on numerous tours of different laboratory facilities in North Carolina. We had a full day at the Newborn Screening Center in Raleigh (~1.25 hours away from Greensboro) which was cool! If you have an interest in public health, or learning about metabolic conditions then this was a neat opportunity. We also get to experience numerous laboratory tours such as the UNC diagnostic laboratory and LabCorp as well.
As a part of our GEN 610 Genetics in the Community course we were required to participate in several unique volunteer experiences. For example, we had the opportunity to volunteer with SibShops for an evening in Winston-Salem (~40 minutes away from Greensboro). SibShops is a fun event for the siblings of children who have intellectual or other disabilities. This day is all for them, and includes games, food, and coordinated activities. I was paired up with the little ones (5-7) and it so much fun to interact with these kids. It was easy to see how observant these little ones were about their sibling, however, it did seem to affect them as I would have expected. Nonetheless, we participated in a rock stacking activity with them and a group discussion session and had a great time.
Another volunteer opportunity comes from the Down Syndrome Buddy Walk in October!! On a nice Saturday we volunteered for the games section of the event which was great fun and allowed to see how much of a community the Down Syndrome Network of Greater Greensboro (DSNGG) has.
For GEN 610 we have the opportunity to attend a support group of our choice to see how valuable support groups can be for families and individuals. Some of my classmates went to a breast cancer support group, others went to an Alzheimer’s support group, I’m sure there are more as well. I personally attended a meeting at HD Reach in Raleigh which is a support group for individuals and families with Huntington Disease. It was a very eye-opening experience as I was exposed to the impacts that HD has on an individual and the family unit. I was so honored to be included, and to learn from each and every attendee, and was so useful!
We also had a family contact as well. Each individual in the program was paired up with a family or individual that has a genetic condition. We were able to bond with the families, ask them questions, attend medical appointments, fun events, or everyday life. It was a truly unique experience, and I was surprised how open all of these families were about having us around.