ABSTRACT
Children's National Health System (CNHS) is a not-for-profit pediatric hospital that employs around twenty genetic counselors in a range of specialties, including clinical pediatric, neurology, fetal medicine, research, and laboratory. CNHS lacked a structured system of advancement for their genetic counselors; therefore, a formal career ladder was proposed by the genetic counselors based on years of experience, responsibility, and job performance. This career ladder utilized monetary, academic, and seniority incentives to encourage advancement and continue employment at CNHS. The creation and ultimate approval of the career ladder required direct input from genetic counselors, Department Chairs, and Human Resource personnel. The establishment of a genetic counselor career ladder at CNHS will hopefully benefit the profession of genetic counselors as a whole and allow other facilities to create and maintain their own career ladder to meet the needs of the growing, competitive, field of genetic counseling.
Subject(s)
Career Mobility , Counselors , Genetic Counseling , Child , Hospitals, Pediatric , HumansABSTRACT
We describe a young girl with dilated cardiomyopathy, long QT syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial DNA analysis that were interpreted as potentially causative. Changes were identified in the KCNH2 gene and mitochondrial tRNA for cysteine. A variation was also seen in MYPBC3. Since the launch of WES as a clinically available technology in 2010, there has been concern regarding the identification of variants unrelated to the patient's phenotype. However, in cases where targeted sequencing fails to explain the clinical presentation, the underlying etiology could be more complex than anticipated. In this situation, the extensive reach of this tool helped explain both her phenotype and family history.
