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Second Sense - Beyond Vision Loss

Genetic Testing: Is It Right for You?

May 15, 2018 | Leave a Comment

by Kathy Austin, CVA

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DNA strand showing its unique double helix structure


Research in preventing vision loss and restoring vision due to inherited retinal disease (IRDs) has been advancing at an amazing pace. News of ground breaking new treatments was recently featured on CBS’s 60 Minutes program on April 29. For those of you with retinitis pigmentosa, stargardt, usher’s syndrome and other inherited retinal diseases, it is an exciting time for the possibility of restoring vision, preventing the progression of vision loss or at least making it possible for our children not to inherit the conditions.

At our April RP Meet Up  our guest was Casey McKenna, certified genetic counselor from InformedDNA. Casey explained the process of genetic counseling and how this applies to this new research. This information-packed presentation covered a basic lesson in genetics, what a genetic counselor can do for you and why and how to get your genes tested for the specific mutations for IRDs. Here’s a brief overview of the points covered, plus links to more information so you can make the decision whether you want to be a part of this research.

Why would you want to be tested for a gene mutation?

This can be a difficult decision for some. Confirming whether you do, or do not, have the mutation that causes vision loss can have life altering consequences. Some things to consider:

  • Genetic testing can help with family planning by understanding the risks of passing along a gene mutation to your offspring.
  • Testing can help you determine who else in your family may be affected and need screening with a retina specialist.
  • It can also help you plan for the future by making lifestyle decisions about where to live or what career path to follow for a person with vision loss.
  • In some cases, genetic testing results can lead to changes in treatment, such as informing your retinal specialist to look out for gene specific ocular complications or even gene therapy.


What does a genetic counselor do?

A genetic counselor can help you through the entire process of genetic testing from reviewing your family history to helping you understand the results of your test.

Genetic tests are not always conclusive. A counselor can explain a positive result, a totally unexpected result or an inconclusive result. If a test comes back inconclusive, a genetic counselor may recommend having other family members tested. For people with retinitis pigmentosa, in approximately 70% to 80% of cases, a gene mutation is found and identified. For other IRDs, the percentage is 60% to 70%.

It is the genetic counselor’s role to double check the lab’s results.  They make sure the lab is using standard interpretations and techniques and that other labs don’t have differing opinions. The counselor will match the lab results and put this piece of information into the context of you and your family. Basically, a counselor can give you the big picture that puts all the pieces of the puzzle together so it makes sense to you.

Can a genetic test come back to haunt you?

Results of genetic tests are shared with only you and your healthcare provider and should be kept private. While genetic testing is protected under the Health Insurance Portability and Accountability Act (HIPAA), they do become a part of your medical record. The information stays private just as would an HIV test result.

The Genetic Information Nondiscrimination Act (GINA) is another law that protects against genetic discrimination. The law states you cannot be discriminated against in employment and health insurance, with a few exceptions, based on a positive genetic test alone. You cannot be denied coverage even if you have a predisposition and have tested positive, but show no symptoms, as this is not considered a preexisting condition.

One caveat to be aware of – this does not apply to other insurance policies. It is recommended to have your non-health insurance policies like disability or life insurance in place prior to genetic testing. You can learn more about how the GINA law protects you by visiting

Do you want to be a part of scientific research?

Since the research is progressing at such a fast pace, scientists are now looking for possible patients to participate in clinical trials. As you can imagine, the pool of individuals affected with an inherited retinal disease is small. Every retina specialist has information on their own patients. Imagine if you were a scientific researcher looking for a pool of patients to participate in a clinical trial. Having to get the word out to all the retina specialists to find the individuals with a specific gene mutation is time consuming and limiting.

The Foundation Fighting Blindness has established My Retina Tracker, a secure database to help provide these pools of patients.  On My Retina Tracker you can complete a profile about your vision loss and have your doctor input details about your condition and history .  This would include information like field test, acuity and other pertinent data. Then qualified researchers can query the database looking for exactly the right people for their clinical trial. The best part of this is the availability of free genetic testing and counseling. Many insurance companies do not have a policy for coverage for genetic testing for inheritted retinal disorders. A test can run a couple of thousand dollars if you pay out-of-pocket.

What should you expect when working with My Retina Tracker?

Since I am affected with retinitis pigmentosa, I chose to participate in the My Retina Tracker registry. So far my experience has been positive. The website is very informative with detailed information for affected individuals and family members. I found it easy to enter the information into my profile as the website is very compatible with my screen reader. Getting my old medical records into that database is a bit of a different story. Stay tuned for future posts about my experience with the My Retina Tracker registry.

Additional Resources

The Foundation has published an informative booklet, Genetic Testing for Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Family and Health Care Providers. The booklet provides a thorough explanation of the genetic testing process, the important role of a genetic counselor and basic concepts and terminology. You can download a copy from the website or call 800-683-5555 to have a print copy mailed to you.

Kathy is the Community Engagement Specialist at Second Sense.

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