The Genetic Counselor provides compassionate genetic education, counseling, risk assessment, and support to patients and families who have genetic conditions, birth defects, or may be at risk for inherited conditions.
This role works as part of a multidisciplinary care team and supports patients across a variety of specialty clinics and clinical settings. Areas of practice may include General Genetics, Metabolic, Bone Marrow Transplant, Cystic Fibrosis, Hearing Loss, Maternal-Fetal Medicine, Neurofibromatosis, Disorders of Sexual Development, and other specialty programs.
-Preimplantation genetic testing and screening
-A previous pregnancy or infant with a genetic syndrome or birth defect
-Carrier screening
-Screening for chromosomal abnormalities
-Prenatal ultrasound findings
-Diagnostic testing
-Family history of birth defects or genetic conditions
-Advanced maternal age
-Consanguinity
Essential Functions
-Assess individual and family risk for genetic conditions, inherited disorders, and birth defects.
-Review medical records and obtain detailed family and pregnancy histories.
-Provide individualized education, counseling, and risk assessment based on available clinical and genetic information.
-Explain genetic screening and diagnostic testing options, including potential benefits, limitations, and results.
-Evaluate and interpret relevant genetic and medical literature and evidence for gene-disease associations.
-Review and interpret genetic testing results and communicate findings clearly to patients, families, and referring clinicians.
-Coordinate additional genetic testing, referrals, and follow-up care as appropriate.
-Collaborate with physicians, healthcare providers, and other disciplines to coordinate comprehensive patient care.
-Respond to genetic counseling-related questions and inquiries from patients, families, staff, and physicians.
-Assist with the development and maintenance of patient consents, genetic counseling protocols, standard operating procedures, and patient education materials.
-Support ongoing efforts to enhance the quality and delivery of genetic counseling services.