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Genetics — the Key to Unlocking Vision-Saving Cures
Genetics plays a crucial role in understanding the causes of retinal degenerations, developing treatments for them, and determining which therapies will work best for each individual.
In the following Q&A, Karmen elaborates on why genetics is so important to people with retinal degenerations, and what she and Dr. Daiger will cover in their session: Why can genetic testing be beneficial to people with retinal degenerative diseases? Nearly all patients with a genetic disease ask, to some degree, these questions: “Why did this happen to me?” “Will it happen again?” and “Can you do anything about it?” Genetic testing can help to answer all three of these questions. When genetic testing identifies a genetic mutation, the diagnosis is clarified, and the underlying cause of the disease is usually uncovered. Knowing the underlying genetic basis of the disorder frequently answers the question of whether that patient is a good candidate for a particular therapy or clinical trial. And finally, knowing the genetic diagnosis makes it possible to provide clear risk information to the family. What is your role as a genetic counselor? As a genetic counselor, I gather detailed family history information and review that, along with a patient's symptoms, history of illness, and medical records to assess likely diagnoses and modes of inheritance. I discuss genetic testing options and provide information necessary to try to obtain insurance approval for testing. I also discuss current and upcoming clinical treatment trials, and do my best to ensure that patients understand the underlying science behind any testing or treatment they are considering. Importantly, I also spend time communicating genetic test results and their implications -- test results are not always straightforward -- and how they may affect other family members. Genetic counselors are also trained to provide basic psychological support in times of stress and decision-making, and to help individuals to reach out to other potentially affected family members. What will people learn from your session? People will learn whether genetic counseling and/or genetic testing is something that would be of benefit to them or to someone in their family. They will gain an appreciation of the difference between research-based genetic testing and clinical genetic testing. They will also learn about the role of genetic information in the development and evaluation of treatments for inherited retinal diseases. Do you recommend any advance preparation to get participants thinking or learning about genetics before attending the session? Is advance prep necessary? Advance prep is not really necessary. However, anytime someone is considering the role of a genetic disease in their family, they should spend some time getting to know their family history. Some genetic disorders are highly variable, and affected individuals can have different symptoms, ages of onset, and rates of progression, even within the same family. Understanding the different eye diseases in the family can help direct diagnosis and genetic testing. Will the session be helpful to someone who has already had a genetic test? Some individuals who have previously undergone genetic testing will have a positive genetic test result and a clear understanding of the genetics of their condition. Others may have undergone genetic testing, either through a research study or a clinical laboratory, and have never received a result, or received a negative or confusing result. For those individuals, this session may help them to understand the difference between research testing and clinical testing, and the likelihood that revisiting genetic testing now may be of benefit. For individuals who have a positive genetic test result, but do not fully understand the implications of that result, the session might help them determine whether genetic counseling may be of benefit in understanding the implications of the test results. |
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