Genetic Counselor 1

Entity: Clinical Practices of the University of Pennsylvania (CPUP)

Department: Med Genetics

Location: Philadelphia, PA, 3400 Spruce

Hours: Full-Time

Position Description 

We are seeking an engaged and resourceful genetic counselor to join the Division of Translational Medicine and Human Genetics. A critical component of this position (50%) includes involvement in the clinical and research missions of the Center for Adult-Onset Hearing Loss (CAOHL), a program focused on genetics of hearing loss in adults. The GC will deliver genetic counseling to patients and/or families who are seen in the CAOHL and also be involved in the research aspects of this program, which include a registry, recruitment of probands and families into a research protocol, and mining databases such as the Penn Medicine Biobank for variants in hearing loss genes. Another component (25%) of this position involves active participation in the Autism Spectrum Program of Excellence (ASPE), a program focused on genetics of autism in adults. The GC will deliver secondary genetic findings to probands in ASPE and also be involved in the certain research aspects of this program. The remaining component of this position will involve clinical and research activities linked to the Division of Translational Medicine and Human Genetics, including clinical GC activities and research activities such as facilitating natural history studies. The individual in this position will work as a part of multidisciplinary research and clinical teams, requiring excellent communication and organizational skills. If you are interested in advancing the understanding of adult-onset genetic conditions and thrive in both clinical and research environments, we invite you to apply to join our innovative and collaborative team. This position is contingent upon grant funding. 

Summary: 

• The Genetic Counselor 1 will provide genetic counseling services using basic skills and competencies and provide care coordination to patients in the practice. He or she will apply knowledge and skills to provide patient care and support research efforts, with assistance from senior team members, as needed. 

Responsibilities: 

• Prepare for cases by identifying relevant medical records and ensuring that these are obtained 
• Collect and evaluate patient medical history, construct a pedigree using appropriate nomenclature 
• Perform comprehensive genetic risk assessment, explain natural history of diagnosis, explain relevant genetic factors, explain available testing and facilitate testing 
• Interpret genetic test results and communicate to patients and other healthcare professionals
• Perform psychosocial assessment and provide counseling 
• Document clinical encounter • Write clinic notes, physician letters, patient letters, and other communications 
• Collaborate with supervising physicians/providers and other care providers, and research teams 
• Conduct research activities, including but not limited to participant contact, family recruitment, registry development, natural history studies, variant review and annotation, and database mining.