Published on in Children's View
The solution to many medical mysteries may lie in our genes. Genetic counselor Emma Bedoukian, MS, LCGC, from CHOP’s Roberts Individualized Medical Genetics Center (RIMGC), guides patient families as they uncover answers that, until recently, didn’t exist. This is a day in her life.
Out of bed and off to the gym.
Breakfast (banana muffin and yogurt), then a bike ride to CHOP’s Main Campus.
Starts the day with a visit to the OR complex, where one of her patients is undergoing a gene therapy procedure for a rare inherited form of blindness. The revolutionary therapy was developed at CHOP and received FDA approval in 2017. If successful, the 7-year-old patient’s vision will improve. It’s a big moment for the family and the CHOP team: “We were all crying.”
Meets with physician-scientist Kosuke Izumi, MD, PhD, to review genetic variations for several patients. They discuss each child’s history and symptoms. Using photographs, they look for facial characteristics associated with genetic syndromes that may help confirm a diagnosis: “See how his eyes are deep set and he has low tone.”
Today, they most likely put an end to a diagnostic odyssey for a 17-year-old patient whose parents have spent years seeking the cause of her severe developmental delays. Exome sequencing found she has a rare genetic syndrome. There is no cure, but there are answers for her family — and reassurance that the likelihood of recurrence in another child is small.
It’s Camp Week at CHOP! Bedoukian takes time out to visit inpatient kids, handing out camp T-shirts and bandanas (which she herself is also sporting), and generally whipping up excitement for the five days of adventurous activities.
Grabs a quick lunch — homemade tofu salad.
Prepares for Hearing Loss Clinic. Staff from the RIMGC, led by Co-director Ian Krantz, MD, will see children who’ve been referred in search of an underlying genetic cause for their hearing loss.
Meets her first of four patients, a 2-year-old with profound deafness. While the toddler happily busies himself with the exam room otoscope, Bedoukian asks his mom about other health issues (skin, eyes, heart), development and the family’s medical history.
Reports her impressions to Krantz, who then examines the child. He engages with the little boy while explaining genetic testing to the mother: “We may be able to find answers for your family.”
Of the 20,000 genes present in each of us, more than 130 have been associated with hearing loss. This child’s testing will focus on that subset of genes, but will also “sequence” or analyze the entire exome. In the future, as more genes are linked to hearing loss, the RIMGC may be able to learn more about his condition.
The child’s genetic profile — with parental consent — will also be used for research at CHOP that may contribute to a broader understanding of the genetics of hearing loss. Most families seen through the RIMGC agree to participate in research.
Clinic over, Bedoukian returns to her office and phones more patient families to go over test results and coordinate any specialist appointments a child may need after diagnosis.
Works on slides for an upcoming ophthogenetics (genes affecting the eye) lecture she will present to clinical and lab fellows.
Heads out to join her running club. Bedoukian logs 40 miles per week.
Dinner, laundry, cat cuddling, bed.
Postscript: The gene therapy procedure for the child with vision loss was successful. Her father reports that for the first time in her life, she was able to see the stars.
What is a genetic counselor?
More than 30 genetic counselors work with clinicians and scientists throughout Children’s Hospital to facilitate genetic testing, interpret findings and educate families about genetic tests and their results. Genetic counselors are also engaged in vital research yielding answers to some of medicine’s most perplexing questions. The Roberts Individualized Medical Genetics Center is supported by a transformative gift from the Roberts family. Donations of any size help further the center’s breakthrough work.
Categories: Children's View Fall 2018