Imagine Magazine - Johns Hopkins - September/October 2012 - (Page 38)

exploring career options Pediatric genetic Counselor Carolyn Applegate Johns Hopkins University Institute of Genetic Medicine interview by Amy Entwisle genetic testing is very expensive and fairly complex, and there are many different levels. i explain why we’re doing particular testing, what it can and cannot detect, and what our plan will be if the test is negative. if it’s positive, i explain the implications. for example, since about 15 percent of children with a developmental delay or autism have a chromosomal abnormality, i always recommend a chromosomal microarray analysis. if an abnormality is found, we make additional recommendations based on the genes and their function within the abnormal chromosome region. We may recommend that a patient see an eye doctor, or have an ultrasound of the heart, for instance. for the most part, i spend the other days answering phone calls from parents and following up on those test results. i meet with families to go over the results and what they mean. i also do inpatient consultations, working with physicians to see children who are in the hospital. In college, Carolyn Applegate studied biology and psychology, a perfect combination, as it turns out, for someone who wants to pursue a career in genetic counseling. Here, she talks about the unique combination of science and counseling inherent in the job, the rapidly changing nature of the ﬁeld, and why the most diﬃcult part of her job is also the most rewarding. How did you become interested in genetic counseling? i remember hearing about genetic counseling in my high school biology class. i kept it in the back of my mind, and then when i was in college, i realized that, in addition to medicine and science, what i really enjoyed was interacting with patients and helping them understand and deal with the medical conditions they were faced with. Who informs the families of a diagnosis once it’s been determined? one of the members of the medical team—the genetic counselor, the medical geneticist, or another physician involved in the child’s care—tells the family the diagnosis. if it’s something that’s obvious in clinic, the doctor might say, “this is what i think it is,” but then i follow up with them to explain in more detail what that diagnosis means, inform them of any associated medical conditions, recommended surveillance, prognosis, and if available, treatment options. as an example, a one-year-old was referred to us for a developmental delay. When i walked into the room, the child reached out for me to hold her. she reached out to the doctor, and then the genetic counseling student. this is an unusual reaction for a one year-old to have: usually at this age, children want to be in the arms of their parents, particularly at the doctor’s office! her very outgoing personality, combined with specific facial features, made it obvious to us that the child had Williams syndrome, which is caused by a missing piece of chromosome 7. We ordered testing to confirm the diagnosis, but we were able to tell the family at that visit that their child most likely had Williams syndrome. Why did you decide to pursue pediatric genetic counseling in particular? genetic counselors generally work with three kinds of patients: couples at risk for having a child with a serious, genetically based health problem; parents of children with a genetic disorder; and adults at risk for a genetically linked, adult-onset condition like alzheimer’s disease or certain types of cancer. i happen to love working with kids and helping parents plan for how to care for their child. and because i see kids with a range of rare genetic diseases, i’m constantly learning. What’s your typical day like? one day a week, i see patients in clinic. typically, they’ve been referred by a pediatrician, developmental pediatrician, or other specialist. i find out what their symptoms are, which specialists they’ve seen, and how they’ve been treated. then i work with the physician to determine the best approach to testing. it must be challenging to have to share such news with families. Because it can be emotionally and psychologically draining, it is helpful to have colleagues and friends to 38 imagine sept/oct 2012

Table of Contents for the Digital Edition of Imagine Magazine - Johns Hopkins - September/October 2012

Imagine Magazine - Johns Hopkins - September/October 2012
Big Picture
In My Own Words
The Proper Care and Feeding of the Teenage Brain
Building Brain Power Through the International Brain Bee
CTY Neuroscience
Same and Different
Braingate: Turning Thoughts Into Action
Shedding Light on Schizophrenia
Unraveling the Mysteries of Memory
Through the Looking Glass
Selected Opportunities & Resources
Fencing Lessons
Off the Shelf
Word Wise
Exploring Career Options
One Step Ahead
Planning Ahead for College
Students Review
Creative Minds Imagine
Mark Your Calendar
Knossos Games

Imagine Magazine - Johns Hopkins - September/October 2012