Saturday, April 20, 2024

Foundation Fighting Blindness Vision Walk

The Genetic Testing Process

Sparing Vision on Exciting Research Projects Funded by the Foundation Fighting Blindness at OIS@ASRS
  • Get a Thorough Clinical Exam Before blood is sent off to a laboratory for testing, a patient needs to get a thorough clinical exam conducted by a retinal specialist familiar with IRDs. Usually, a clinical exam will give a strong indication of what the disease is e.g., Stargardt disease versus retinitis pigmentosa. This can greatly help the genetic testing lab narrow the scope of the search for the disease-causing gene mutation, saving time and money.
  • Meet with a Genetic Counselor Genetic counseling is a critical part of the genetic testing process. A genetic counselor can help you decide if genetic testing makes sense for you and your family. A genetic counselor can also help determine the best genetic test for you, based on current test methodology, number of genes to be tested, detection rate, price of the test, and potential insurance reimbursement. The counselor can also tell you the likelihood that the genetic basis of your condition will be found and how discovering, or not discovering, the genetic defect might affect you and your lifestyle. In addition, he or she will interpret the test results for you, and serve as your advocate throughout the genetic testing process.
  • You can download the booklet by clicking on the hyperlink below or call 800-683-5555 and ask for a copy to be mailed to you.

    Resource Download

    An Overview Of Genetic Testing For Inherited Retinal Diseases

    Most rare retinal diseases including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia are inherited and usually caused by one or more defects in a single gene.

    Genetic testing is available to attempt to identify the defective gene causing the IRD in an individual or family.

    There are potential benefits to knowing the underlying genetic cause of a persons IRD. It may help confirm or refine a diagnosis. Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. It can also guide the testing of family members to identify those at risk of inheriting the condition. Knowing the genetic defect may help people qualify for clinical trials and inform them about which future therapies may be of benefit.

    At the same time, the information revealed from a genetic test may not be immediately helpful to an individual or family. In some cases, the knowledge might create anxiety for some family members.

    It is very important to remember, however, that a genetic test may not reveal the defective gene, which can be frustrating for a patient and their family.

    The decision to undergo genetic testing should not be made lightly. Anyone interested in a genetic test is strongly advised to talk to a genetic counselor or retinal physician who is knowledgeable about the genetic testing process and the potential impacts of the results, before they decide to undertake the test.

    Who We Are And What We Do

    The Foundation Fighting Blindness is the worlds leading organization committed to finding treatments and cures for the entire spectrum of blinding retinal diseasesincluding retinitis pigmentosa, macular degeneration, and Usher syndrome.

    Our vision is to recruit and retain a high performing and well-structured community-based grassroots Chapter leadership and membership.

    We are winning thanks to the revenue raised through our Chapter program. The Chapter network has three areas of focus: education, resources, and revenue. Chapters hold seminars and meetings that provide research information, low vision resources, and other industry topics and provide outreach to retinal practices and eye care professionals in local communities. Along with raising revenue through VisionWalks, dinners, Raising Our Sights Do-It-Yourself fundraisers, and individual donors, Chapters help accelerate our mission to drive research that will provide preventions, treatments, and cures for people with retinal diseases.

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