The Genetic Counseling Service provides comprehensive care for patients and families with inherited eye conditions. Our certified and licensed genetic counselors are experienced in helping patients and families gather information in order to make an informed healthcare decisions. We offer risk assessment, education, and genetic testing for inherited eye conditions.
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 disorders such as retinitis pigmentosa.
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 does genetic testing involve?
Genetic tests are medical tests that are used to determine the underlying cause of inherited eye conditions.
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 eye condition can provide an accurate diagnosis, identify therapies that may be available in the future, and provide more specific information about risk for future generations.
For questions or to schedule a genetic counseling appointment, contact 617-573-4227.
Meet the Genetic Counseling Team