FAMILY INFORMATION

The Genetics Evaluation Process

Anyone can request a genetic evaluation. The steps of the evaluation are:

• The genetics counselor or family nurse practitioner conducts an interview to obtain health information, physical assessment and laboratory testing. Medical and developmental records may also be collected.



• The interview results are then prepared for the geneticist's review before the outreach clinic appointment.



• The clinic appointment is scheduled at the clinic site closest to your home.



• When a diagnosis is reached, the genetics outreach team discusses information about the cause, chance for recurrence, medical management, and prognosis with the patient and family.



• Following the clinic appointment, the genetics outreach team provides the genetic diagnosis and medical recommendations to the referring physician and/or primary care provider.



• The genetics counselor or family nurse practitioner provides continuous support by linking the patient/family and primary care provider to an academic medical center, providing updated, appropriate medical surveillance/management for complex genetic disorders.