Genetic Counseling Team
Who are genetic counselors?
Genetic counselors are specialized healthcare professionals who are trained to provide patients with information about inherited conditions, such as inherited retinal degenerations. Genetic counselors help interpret family and personal medical history information, assess the inheritance pattern of medical conditions, and provide education about genetics and genetic testing. Genetic counselors can help patients understand the benefits and limitations of genetic testing, help patients select the appropriate genetic test, and interpret and explain genetic test results. In addition, genetic counselors provide guidance and support to patients as well as information about resources or research related to inherited conditions.
What should I expect in a genetic counseling appointment?
During a visit with a genetic counselor, typically we will explore your family health history, discuss your medical condition or reason for referral, and talk through decisions related to genetic testing. The genetic counselor can help you understand what genetic tests are available and help you decide whether genetic testing is something you would like to pursue.
What does genetic testing involve?
Genetic tests are medical tests that are used to determine the underlying cause of inherited conditions, such as inherited retinal degenerations. After discussing genetic testing with a genetic counselor or physician, patients can provide a blood sample for the genetic analysis. Genetic testing can identify changes in the patient’s DNA, or genetic material. Genetic testing can detect changes in individual genes, which are called mutations. Genetic mutations may have an effect on a person’s health, including eye disorders. Identifying the underlying genetic cause of inherited retinal degenerations can provide an accurate diagnosis, identify therapies that may be available in the future, and provide more specific information about risk for future generations.
Two genetic counselors, Emily Place, MS, LCGC, and Kaitlin O’Connell, MS, LCGC, work with patients in the Inherited Retinal Disorders Service at Massachusetts Eye and Ear.
The Genetic Counseling Service can be contacted at: 617-573-4227.