Hi, my name is Andrea Skelhaus. I'm a genetic counselor. I currently work at Nemours A.I. DuPont Hospital for Children. I was asked to speak a bit about genetic counseling, how to get into the profession, and then my experiences with the profession so far, and so I thought I would start there. Some of you may or may not know kind of what it is that genetic counselors do, and so I will start there. Genetic counselors actually have advanced training in medical genetics and in counseling. Some of the roles that genetic counselors play are to explain genetic risk based on family history, to help families or individuals process medical and emotional implications of a particular genetic diagnosis. Very important is they help to connect individuals and families to support resources, including other affected individuals. They also help to support patients when it comes to things like genetic testing. Genetic testing isn't always very straightforward, and that decision can have significant implications for the individual or family, and so helping guide someone through that process on whether or not genetic testing is appropriate for the family or for the individual, and then if genetic testing is performed to help explain those results and what it means going forward. They also can help develop a personalized medical plan. So, for example, if someone is given a diagnosis of a hereditary breast or ovarian cancer syndrome, they can help go through the medical management plan and help families or individuals understand what some options are and what that might mean for them. In all of this, of course, it's incredibly important to take into consideration a patient's past experiences, their goals, cultural or religious beliefs, any financial or social resources. It's also important for a genetic counselor to take a peek at the different dynamics that are going on, both interpersonal dynamics and family dynamics, and also have a good understanding of what someone's ability to cope or personal coping styles might be. Genetic counselors work in a variety of settings, so this is exciting, and these settings continue to grow and evolve. Previously, genetic counselors used to work in specifically three areas, so prenatal, pediatric, and cancer genetics. I work in pediatric genetics, and I can go into that a little bit further later, but genetic counselors are expanding their roles into specialty care settings. It's not uncommon to see genetic counselors in settings such as cardiology, neurology, ophthalmology, even psychiatric genetics. Other genetic counselors might choose to work in a laboratory setting. Some may work in research or education, and some of these roles may include multiple facets. In pediatric genetics, one might work in a clinical setting but also do some research in education as well as part of that job description. Genetic counselors are also working in the area of business, so for example, within a genetic testing company, helping to develop tests or explain tests, working in marketing, things like that. The process of becoming a genetic counselor, in case one's not familiar with that, becoming a genetic counselor requires that an individual have a bachelor's degree. Oftentimes, that bachelor's degree is in biology or social science or some other related field. Individuals are required to take coursework like bio and chemistry, genetics, psychology, statistics, things like that, most of which I imagine many of you have already taken. Most importantly, not most importantly, but importantly, advocacy work is a big part of the application process, so being able to demonstrate the ability to communicate well with others, whether that's in a crisis counseling setting, mentoring youth, supporting individuals with disabilities, working in a setting where you're working with veterans or homeless individuals. Also important is making sure that you have a really strong understanding of what a genetic counselor does, so in order to do that, the shadowing experience is often part of the application process. These days, sometimes that can happen virtually or in person, but shadowing is a large part of that. Individuals often need a GRE, although some programs have done away with that, and then applying to genetic counseling programs. Many people choose to apply to multiple programs. There's an interview process and a match system. Once you are accepted into a program, the coursework is varied within having a good understanding of genetics, but also having a balance of counseling work, and that is able to be put into practice in the clinical setting. Some programs offer clinical experience in the first and second year, others just in the second year, so it's something important to consider, and then also part of every program is a research opportunity, and again, sometimes that starts in the first year. Other programs started in the second year, so to give you a bit of information about my own background and how I became a genetic counselor, I'll start at the beginning. I actually got an undergraduate degree in genetics and cell biology from the University of Minnesota, but what I had noticed while doing my undergraduate degree is it is really tough for someone with a bachelor's to go into patient care. I knew I wanted to be involved in patient care in some way or to work with people in some way, but I wasn't quite sure how to do that and didn't want to work in a laboratory setting, so I took a few years and I moved to New York City and ended up working with young women who were pregnant in various community hospital settings. From there, I went back to school and got a master's in teaching, so I taught biology and special education to students in a high school setting for about five years. I still had an incredible drive to go back and use somehow this background in education and my undergraduate degree in genetics and really support patients and families in a way that could, I'm not even quite sure how to say it, but in a way that was meaningful and could really change their life. As an aside, I do have achondroplasia, which is the most common form of skeletal dysplasia, so I have a personal connection to genetics as well. I'm also involved in LPA, which is an organization that supports individuals with achondroplasia and other forms of dwarfism and then also provides resources to them and their families and new individuals within LPA that were part of the medical advisory board. That is how I actually found my current role as a genetic counselor at Nemours A.I. DuPont Hospital for Children. I currently work in the skeletal dysplasia program here. We are a relatively large program. We see families from almost every state in the nation and also families that travel internationally and hold clinic multiple times a week every week, which is quite different than many hospitals. Fortunately, I knew that when I went to become a genetic counselor that my goal was ultimately to work with people like myself, to work in the skeletal dysplasia field, and it required a move to Delaware, but here we are. Here I am with my family, and it's been a wonderful experience. Just to give you a bit of a heads up on what my job entails, myself and another genetic counselor, we support families in understanding perhaps a new diagnosis or an unfamiliar diagnosis, so that can be one of any. There are over 450 different types of skeletal dysplasia, so one of the many types. We help families understand medical management needs and recurrence risk. Our goal is to provide hope and to provide opportunities to ask questions and give answers to things like, will my child be able to drive a car? Will they be able to attend a typical school? Will they be able to go to college? How do I navigate tough conversations with other families or with strangers? Things like that. We also connect families to support organizations, so that could be LPA. For our families with OI, the Osteogenesis Imperfecta Foundation is an important resource. We connect individuals to other families with skeletal dysplasia, and we also understand that needs change over time, so we meet with families quite regularly. With our infants, we meet with them every three months. As kids get older, that changes to every six months, and by the time they reach school age, we're meeting with families annually. Part of my job also includes contributing to research and the scientific literature, so I've been at my position for a little over a year and have been able to help our team publish on a family whose son has thanatophoric dysplasia and really contribute to the literature that does what was previously known as a lethal diagnosis. Does it always mean that the diagnosis is lethal, or are there other families like this one who can perhaps tell a different story? This has been a really unique role and perhaps not one that's so typical in the genetic counseling setting, but just it's important to know that genetic counselors really can work in a variety of settings. Regardless, I'm happy to answer questions or to speak more about my experience, whether that be the school process or my experience now working as a genetic counselor. All right, thanks so much.

genetic counselor

medical genetics

family history

genetic testing decisions

skeletal dysplasia program