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I Want a Genetic Test. Where Do I Even Begin?

4 simple steps to genetic testing

step-to-gen
Schedule an exam

Schedule an exam with an ophthalmologist, retina specialist, or inherited retinal disease specialist. An eye exam and family history may reveal signs of your disease. If you are suspected of having an inherited retinal disease, or if you have a family member with one, ask your eye specialist about access to genetic testing and a referral to a genetic counselor.

Meet with a genetic counselor

Meet with a genetic counselor who will explain the value of genetic testing for you and your family, what to expect, and to later explain the test results. The genetic counselor will also help determine which genetic test is most appropriate.

Genetic testing will be ordered

Genetic testing will be ordered by your eye specialist. The genetic test will involve providing a blood or saliva sample for the genetic lab to test. Results may take a few weeks. It may vary depending on which test is recommended and which lab is used.

Discuss the results

Discuss the results with your genetic counselor and/or eye specialist. Together, you may talk about support and resources available for your condition, such as support groups and custom low-vision aids. At this point, they may recommend extra steps to find out if you are eligible for a clinical trial or an available therapy.

Step 1
Step 2

Find an eye specialist near you

Partner with an eye specialist to create a care plan that’s right for you. Use this tool to find your trusted partner in eye care.

Locate an eye specialist

Genetic counselors:
your guide to genetic testing

Female clinician with a clipboard and a female patient sitting at a desk talking

Genetic counselors are key experts when it comes to genetic diseases and testing. Along with your eye specialist, the genetic counselor will be your guide every step of the way, both before and after your genetic test. Here’s what to expect:

Before your test, your genetic counselor will partner with you to:

  • Write down your personal and family history
  • Assess your genetic risk
  • Discuss the risks, benefits, and limitations of genetic testing and what to expect
  • Discuss which type of genetic test to consider

“What do my results mean?”

Your eye specialist along with your genetic counselor will help set expectations about what genetic tests can reveal.

Positive

We have an answer

  • The genetic cause of your vision loss or impairment has been identified
  • Your genetic counselor will discuss your diagnosis with you

Negative

We don’t have an answer

  • No gene variants found for any of the tested genes
  • Inherited retinal disease diagnosis NOT confirmed

Inconclusive

We may or may not have an answer

  • One or more gene variants were identified, but their role in your vision loss or impairment is unclear
  • We don’t have enough information and may consider retesting in the future
  • Inherited retinal disease diagnosis NOT confirmed

“I’ve got my results. Now what?”

If your test confirms you have an inherited retinal disease… Now it’s time to partner with your genetic counselor and eye specialist to help you understand what your results mean for you today and in the future. It’s normal to have lots of questions. Here are some you might want to ask your eye care team:

Mom hugging a daughter near a window
  • How will an inherited retinal disease affect my vision over my lifetime?
  • Are there any effective treatment options for me?
  • Am I eligible for a clinical trial?
  • Are my family members at risk?
  • What lifestyle changes will I have to make, such as career choices and where to live?
  • How will an inherited retinal disease affect my plans to have a family?
  • Who are low-vision specialists, and how can they help me? Can they tell me about low-vision aids and devices to use?
  • Are there any support groups I can join?
  • If needed, how will I gain access to available benefits, such as disability and support programs?

Genetic tests can reveal more answers

Genetic tests are complex. Even if you receive a negative or inconclusive result, it does not eliminate the potential for there to be a genetic cause for your vision loss or impairment. Some reasons your test could reveal a negative or inconclusive result include:

The test did not find a gene variant that is known to cause disease

Your eye issues are caused by another unrelated condition

It’s important to remember science is constantly evolving. Genetic testing options have advanced over the past few years. Together, you, your genetic counselor, and eye specialist will decide if retesting should be considered.

Over the past 30 years, more than 270 genes related to inherited retinal diseases have been identified
Graph showing identified retinal disease genes increasing over time from 0 in January 1988 to 270 in January 2016 Graph showing identified retinal disease genes increasing over time from 0 in January 1988 to 270 in January 2016

RetNet, The Retinal Information Network, https://sph.uth.edu/retnet. Accessed September 2021, reproduced with permission, Stephen P. Daiger, PhD, and the Foundation Fighting Blindness. Text and format changes added by Janssen, Inc., with permission.