Genetic Counseling Program

Untitled Document

Talking to Those Who Have Been There:  Identifying Barriers to Adult Health Care for Individuals with Phenylketonuria.  By Kristen Cornell

Transitioning adolescents with chronic conditions into adult health care has received increased attention in recent years. A multidisciplinary collaboration at the University of North Carolina at Chapel Hill is working to establish an effective transition protocol aimed at addressing the unique adult needs of patients with phenylketonuria (PKU).  There is a lack of published transition protocols and primary research into barriers to adult health care for this patient population.  This study was designed to identify factors that may be limiting access to adult health care for adults with PKU. Eligible participants were patients with PKU followed by UNC Pediatric Genetics and Metabolism between the ages of 18 and 35.  A telephone survey was developed to understand patients’ general knowledge of PKU, and the challenges they face with diet adherence, use of primary care physicians, use of the metabolic clinic, ability to access medical services, and their use of support systems. Twelve of the fifty-two eligible patients enrolled in the study. These participants were diagnosed through newborn screening, were generally well-educated, following a low-phenylalanine diet, and had good understanding of PKU. While almost all had health insurance, some did not have coverage for their PKU-related health needs or expressed anxiety about health insurance in general.  Many participants currently lack a primary care physician and felt displaced in a pediatric metabolic clinic as adults. Online resources were the primary source of new information about PKU. Camps and other events for individuals with PKU were utilized for support.  These data may be used  to establish a pilot transition protocol for adolescents with PKU, which could include discussions focusing on the importance of the metabolic clinic for adults, change in clinic location for adults with PKU, and an attempt to give patients with PKU more information about health insurance. Modifying this protocol to address the needs of patients with other metabolic conditions seen at UNC may also be possible. Additionally, these findings may be further extended to other health care professionals looking to establish transition protocols for their patients with special health care needs.

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  • "I chose to attend UNCG because of its shared learning environment and the access to some of the leading institutions in the country. "

  • "UNCG is a great fit for me. The program directors have extensive experience in the world of genetic counseling and provide you with opportunities to work with some of the best medical centers in the country. Our location allows us to have expert guest lecturers, many of whom you also get to work alongside or observe in your clinical rotations in your second year. We also have some really wonderful and unique opportunities as a part of this program: we observe in syndrome specific support groups and clinics, tour genetic laboratories, and are matched with a family with a genetic disease to learn what it is like to live with a genetic condition. Finally, our directors are genuinely invested in each of us, and care about our success and getting to know each of us personally."

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