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I want a genetic test. Where do I even begin?

I want a genetic test. Where do I even begin?

5 simple steps to genetic testing

Step 1: Schedule an appointment

Schedule an exam with your general practitioner (GP) or optician. An eye exam and family history may reveal signs of your disease. If they suspect you or your family member have an inherited retinal disease, they will refer you to your local ophthalmology department.

Here you will be connected to an eye specialist such as an ophthalmologist, retinal specialist or an inherited retinal disease specialist depending on your local eye care facility.

Step 2: Meet with a specialist

Once you’ve been referred to an ophthalmologist, retinal specialist, or inherited retinal disease specialist, they will assess if genetic testing is right for you. Your specialist may be able to organise genetic testing on their own or they may refer you to a genomic medicine or genetics centre.

Step 3: Receive a referral to a genetics centre

Meet with a genetic counsellor at the genetics centre who will explain the value of genetic testing for you and your family, what to expect, and later explain the test results. The genetic counsellor along with your eye specialist will help determine which genetic test is most appropriate.

Step 4: Genetic testing will be ordered

Genetic testing will be ordered by your particular specialist. The genetic testing will most likely involve a blood sample and will be sent to a genomic laboratory hub. Results may take up to 3 months, but timing can vary depending on which test is recommended and the lab used.

Step 5: Discuss the results

Discuss the results with your genetic counsellor and/or eye specialist. Once your results are in, you can expect a phone call from your genetic counsellor and/or eye specialist.

If your results are received over email, it can be helpful to request an in-person discussion. Together, you may talk about support and resources available for your condition, such as support groups or custom low-vision aids.

Genetic counsellors: your guide to genetic testing

Image of a female healthcare professional sitting at a desk with a female patient

Genetic counsellors* 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:

* If you don’t have access to a genetic counsellor in your region, please refer to your eye specialist for guidance about your genetic test

Before your test, your genetic counsellor 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

Understanding results


“What do my results mean?”

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

Positive

  • The genetic cause of your vision loss or impairment has been identified

Negative

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

Inconclusive

  • 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 counsellor 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:

  • 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 programmes?
Mom hugging a daughter near a window

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 negative or inconclusive results include:

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The test did not find a gene variant that is known to cause disease
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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 counsellor and eye specialist will decide if retesting should be considered.

Over the past 30 years, more than 300 genes related to inherited retinal diseases have been identified

Graph showing identified retinal disease genes increasing over time from January 1988 to January 2016

Adapted from RetNet.com.

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There have been multiple clinical trials assessing the therapeutic potential of gene therapies in inherited retinal diseases

Many clinical trials for potential treatments, like gene therapies, are underway for different inherited retinal diseases.

Stronger together

Find support among communities and organisations dedicated to inherited retinal diseases.

References

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Hollander JE and Carr BG. NEJM 2020;382;18:1679-1681.
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