Why should I get genetic testing?
More answers, more control when it comes to future lifestyle changes
If you’re suspected of having an inherited retinal disease, genetic testing may provide valuable ANSWERS to inform you about ways in which your lifestyle may have to change in the future.
- Affirm the genetic cause of vision loss or impairment
- Navigate new insights into how vision may change over time
- Strengthen your understanding of your condition
- Weigh the potential risks of other family members
- Explore support groups and low-vision resources
- Reveal potential health impacts in other areas of the body
- Stay engaged and informed about the future
Over 300 genes
related to inherited retinal diseases have been identified so far. The genetic cause of a suspected inherited retinal disease could be within one of them.
Genetic testing might help identify up to 80% of mutations causing an IRD
Early genetic testing matters. Here’s why:
- The earlier you test, the earlier you may receive an accurate diagnosis that can put you in more control of your health
- Your eye specialist can help you determine if there are any appropriate treatments depending on your test results
- With a better picture of your genetic cause, at-risk family members may now also be tested
- If your result reveals impact to other areas of your body, your eye specialist may refer you to another specialist for care
- Some therapies may require living cells to be eligible for treatment. For example, inherited retinal diseases may be progressive, so earlier diagnosis may provide better chances for living cells to be available
“Inconclusive” or “Negative” may not be the final answer
- Your result can inform your eye specialist about a possible different diagnosis9
- Your eye specialist may recommend retesting in a few years. Remember, science is constantly advancing and there are more genes yet to be discovered. Just in the past 10 years, more than 100 new genes related to inherited retinal diseases have been identified10
- With the evolution of genetic testing technology, creation of more labs and improved interpretation of results, the genetic cause of vision loss or impairment can now be determined in even more people9
Where do I even begin?
Check out the 5 simple steps to genetic testing which can give you more answers.
Behold the possibilities of gene therapies
Many clinical trials for potential treatments, like gene therapies, are underway for different inherited retinal diseases.11
References
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Lousada I, Comenzo RL, Landau H, et al. Light chain amyloidosis: patient experience survey from the Amyloidosis Research Consortium. Advances in Therapy. 2015;32(10):920-928.
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Amyloidosis Support. Amyloidosis awareness. Accessed May 26, 2022.
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McCausland KL, White MK, Guthrie SD, et al. Light chain (AL) amyloidosis: the journey to diagnosis. The Patient-Patient-Centered Outcomes Research. 2018;11(2):207-16.
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Myeloma UK. Diet and nutrition. Living well with AL amyloidosis Infosheet. Accessed May 26, 2022.
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Healthline. 8 Natural and Complementary Therapies for Amyloidosis. Accessed May 26, 2022.
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Shin SC, Robinson Papp J. Amyloid neuropathies. Mount Sinai Journal of Medicine: A Journal of Translational and Personalized Medicine. 2012;79(6):733-48.
[8]
Cancer.Net. Amyloidosis: Symptoms and Signs. Accessed May 26, 2022.