What are the benefits of genetic testing?
Genetic tests can help to:
- Diagnose disease
- Improve the accuracy of a patient’s prognosis and genetic counseling
- Identify gene mutations that could be passed on to children
- Screen newborn babies for certain treatable conditions
- Identify mutations presymptomatically. For some diseases, including early-onset glaucoma, this allows for increased disease surveillance and timely treatment.
What is required for a genetic test?
Genetic testing requires a tissue sample from the patient, usually blood or saliva, which is sent to a CLIA-certified laboratory for testing.
What factors should I consider before ordering a test?
- Usefulness: Consider whether or not testing will help you better manage your patient, including the opportunity for gene-based therapies as they become more readily available. Genetic testing is particularly useful for patients who have a family history of inherited retinal degenerations, early-onset glaucoma, and primary optic atrophy.
- Cost: For many patients, affordability is an important consideration and should be factored in to the decision-making process. Costs versus benefits also should be considered. In some cases, an expedited test result (a more expensive option) may allow more rapid access to effective therapy or to information that is needed for family planning. At Mass. Eye and Ear, costs range from $500 to $3,500 depending on the type of test. Health insurance may cover part or all of the costs.
- Turnaround Time: This varies laboratory to laboratory, and will depend upon the type of test ordered. Typical turnaround time at Mass. Eye and Ear is 90 days.
- Reporting: Patients should receive written copies of each genetic test report. Reports are returned to the physician who ordered the test and should be interpreted by a health care provider with knowledge of the disease genetics.