GENETICS TEAM

The medical genetics outreach team includes medical geneticists, genetics counselors, a family nurse practitioner, nutritionist, and administrative staff. The outreach team is board certified in clinical genetics, dysmorphology, cytogenetics, metabolic genetics, genetics counseling and advanced practice nursing.

A clinical geneticist is an MD who completed a pediatric residency, followed by specialized training in genetics. They recognize genetic disorders and birth defects, and understand the importance of the disorder to the well-being of the patient.The geneticist is trained to diagnose genetic disorders and recommend appropriate treatment and ongoing medical surveillance.

A genetic counselor speaks with patients and their families about the complex scientific and emotional aspects of the genetic condition. The genetics counselor has varied roles. The genetics counselor obtains family and medical history information; assists the doctor with the genetics physical exam; and coordinates laboratory testing. The genetics counselor is specially trained to provide factual information about the genetic condition and its inheritance pattern as well as to support the family by providing written information and/or family contacts; addressing the emotional issues surrounding the diagnosis; and assisting clients in decision-making. The genetics counselor works with the family within the context of their values and culture.

A family nurse practitioner has advanced education and clinical training to serve as a regular health care provider for children and adults. As a member of the genetics team, the nurse practitioner (NP) works in collaboration with the medical geneticists and in the diagnosis and management of genetic conditions. The NP obtains a detailed family health history and performs a comprehensive physical exam, both of which provide clues to finding a diagnosis. The NP also identifies health and medical risk factors, uses community resources, and consults other health professionals to provide coordinated medical care for the patient. Following diagnosis the NP continues to reassess and modify the patient's treatment plan as needed. Like the genetic counselor, the NP works with the family in the context of their values and culture.

An administrative assistant collects referral information from the health care practitioner or family member and schedules an appointment in the appropriate outreach clinic.