By Christina Peroutka, MD, FAAP, FACMG, Assistant Professor of Pediatrics, Medical Biochemical and Clinical Genetics
Q: Tell me about your work with genetics and metabolic disease.
A: Last fall I joined the division of Genetics at UVA and I am really excited to be a part of a growing team! While ‘Kids Matter!’, and pediatric patients are by far my favorite age group, in Genetics we actually take care of patients of all ages – from newborns through adults. Genetics provides a range of services to our patients including clinical diagnosis, genetic counseling, and the management of metabolic diseases. We see patients in the outpatient and inpatient settings. Part of our practice also involves a larger commitment to the state of Virginia in that we are one of the newborn screening centers.
Q: What does the future look like in this field?
A: Patients or parents frequently ask, “Well, if you know the problem with the gene, can’t you just fix the gene?” I think the future of Genetics is two-fold: 1) the ability to find and diagnose rare disease through improved testing technology and 2) the ability to ‘fix’ the underlying problem through gene therapy, solid organ (liver/kidney) and bone marrow transplantation. We’re bringing these technologies to UVA to help our patients. This fall, we introduced a new testing methodology called rapid exome sequencing on several patients in the critical care units at UVA and were able to positively impact care.
Q: What is the next step for you and the team?
A: The Virginia State Newborn Screen is continuing to add more and more conditions that allow for pre-symptomatic, effective therapies for infants– some of these conditions require bone marrow transplantation or gene therapy. Others require emergency metabolic management in the perinatal period in very small infants. We are working with our colleagues across departments and divisions to ensure we are prepared to care for these patients here in Virginia. UVA is the only center in the state with the capability of running metabolic labs “on site.” We are working with the Department of Pathology to enhance these services overnight and on weekends, and we are excited that Pediatric Nephrology will be increasing the capability for neonatal dialysis. There are plans to bring pediatric bone marrow transplantation to UVA. Currently, some of our patients are transferred out of state and we would like to be a comprehensive metabolic center that can keep our patients here in Virginia!
Q: Are there any cases that stand out to you?
A: Since I have joined the genetics team at UVA, we have brought rapid whole exome sequencing as a diagnostic tool for critically ill inpatients. One of our first cases was an infant with severe respiratory distress, poor bone mineralization, flared epiphyses and a bell-shaped rib cage. The patient’s story did not fit with more well-known causes of these features, and a tracheostomy (surgical airway) was being considered to help the patient breathe. Rapid whole exome sequencing was sent and we were able to find a rare calcium transporter defect that is important for bone mineralization during pregnancy, but resolves with time after birth! This patient was given calcium and did not require a surgical airway. The patient is doing well since leaving the hospital and it was rewarding to be able to help this patient.
Q: Are we getting to the point we can cure disorders by transplantation?
A: Yes, absolutely! As noted above, the most recent disorders added to the Virginia State Newborn Screen are treated/cured through bone marrow transplantation. For some other disorders, such as selected disorders of protein metabolism, liver transplantation is curative. These are disorders that are detectable by newborn screen. We are the only center in Virginia that offers pediatric liver transplants and are a liver transplant center of excellence. We are hoping that UVA will be able to bring pediatric bone marrow transplantation to our center soon.
Gene therapy is also incredibly important and is already approved for one condition screened for by newborn screen – spinal muscular atrophy. We offer this therapy at UVA.
Q: What do you feel is the most exciting part of your work?
A: I really love metabolic genetics because of the opportunity to have a huge impact on the lives of children. It is so exciting to help children grow and develop in a healthy way because you were able to provide them with the treatment they needed.
I think about how newborn screen started with phenylketonuria (PKU). This is the most common inborn error of amino acid metabolism and was first described in the 1930s. By the 1950s, scientists and doctors worked together to figure out that you could provide dietary management for this condition and in the 1960s, it was adopted as the first newborn screen in Europe and in the United states because early treatment could prevent intellectual disability and allow for a normal life. Now we have over 30 conditions for which state-wide newborn screening is done!
I also love my job because we not only think about the patient, we think about the whole family. Finding answers for the patient also finds answers for the family and potentially allows for treatment of family members, including earlier diagnosis and treatment for siblings.
Q: What is most difficult part of your job?
A: The spectrum of what we can do in genetics isn’t always what we should do. Specifically, there is still a high cost of genetic testing and therapies. Diagnostic testing often costs several thousand dollars and gene therapies currently cost around 1 million dollars or more per patient. We want to provide the best care to each patient at the time of need, but we also need to be good stewards of healthcare resources.
Q: What have you learned from this program that you’d want to share with others in the department?
A: When you come across a medical mystery, don’t forget about genetics! It is surprising how changes in one gene can manifest in surprising ways.
Q: Why is collaboration such an important factor in your work?
A: Working in genetics is like being a specialized generalist. We work with patients with multi-system involvement and we really depend on collaboration with our colleagues in other fields to provide the best care. Being a genetic center of excellence requires working with great nephrologists, gastroenterologists, cardiologists, neonatologists, oncologists, pharmacists and pathologists (to name a few)!
Q: Anything else you’d like to add?
A: It has been a privilege to join the UVA genetics team! I am really excited about the innovative testing we have already brought to UVA and about opportunities to expand the services we provide to our patients and to our state!
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