How genetic testing works.
Genetic testing is a process that may identify changes or mutations in a person's genes. Because genetic mutations may cause health issues, genetic testing could help explain how and why a disease affects a person. For those with an inherited retinal disease (IRD), it may identify the cause of vision impairment.
Genetic tests have evolved with the identification of new genes, and one of the latest tests may provide more information.
The ID YOUR IRD gene testing initiative will not be able to provide genetic information to everyone with an IRD, but the initiative aims to help inform as many people as possible. Participation is subject to the terms and conditions of the ID YOUR IRD initiative.
This IRD genetic test can only reveal information about certain genes that may affect your vision and cannot provide any information about other diseases, such as cancer or diabetes.
If you had a negative or inconclusive genetic test more than 5 years ago, think about getting tested again.
ID YOUR IRD PROVIDES 1 OF 3 TYPES OF RESULTS.
A positive result means that the test found a mutation (or mutations) on a specific gene that is known to cause an inherited retinal disease.
A negative result means that the test did not identify a genetic cause of disease - but this does not rule out the diagnosis of an inherited retinal disease. The ID YOUR IRD gene panel only includes a select number of genes in which mutations have been found to cause certain early-onset, rod-mediated IRDs. There are many genes in which mutations have been found to cause IRDs and additional testing may be available through your doctor.
An inconclusive result (also known as a "variant of uncertain significance") means that one or more mutations were found, but it is not yet known whether these mutations cause disease. An inconclusive test result does not rule out the diagnosis of an inherited retinal disease and, with time, research may reveal more information about these variants and their association with IRDs. Genetic counseling may help with the understanding of an inconclusive result and additional testing may also provide more information.
DOCTORS HELP YOU INTERPRET ID YOUR IRD RESULTS.
Genetic test results can sometimes be unclear or hard to interpret—but your doctor can help. They guide you through the testing journey and can answer questions about your results, or refer you to someone who can. You can also ask your Patient Liaison from Spark Therapeutics to put you in touch with a genetic counselor to discuss your results, at no cost to you.
Why did Spark Therapeutics launch the ID YOUR IRD initiative?
Spark Therapeutics has been actively engaging with patient families and associations and medical communities who work to support those living with IRDs. We have repeatedly heard from them about the barriers that frequently prevent patients from identifying the genetic mutations responsible for their vision loss. In an effort to eliminate some of those barriers, Spark Therapeutics has worked in consultation with patient advocates, physicians, and other health care professionals to create a plan to help. The ID YOUR IRD gene testing initiative is designed to provide access to genetic testing and optional genetic counseling for eligible U.S. residents with certain IRDs at no cost.
A confirmed genetic diagnosis is a critical gateway for patients with IRDs. It is hoped that the initiative will help patients, caregivers, and the medical community better understand inherited retinal disease and offer greater insight into the underlying cause of a patient’s vision impairment.
What can I expect from the ID YOUR IRD initiative?
After you take the 4-question screener, please fill out your contact information and a Patient Liaison from Spark Therapeutics will reach out to you if your responses indicate that you might be a candidate for the ID YOUR IRD initiative. The next step is to schedule an appointment with your doctor to discuss participating in the initiative. It is your doctor's role to confirm that you are eligible, get your consent to participate, and authorize your genetic test. Your doctor will ask you or your parent/legal guardian to fill out a consent form. You will also need to provide your doctor with a blood or saliva sample, which will then be sent to PreventionGenetics, an accredited laboratory, for testing and analysis.
Your results are sent to your doctor's office and it is their role to discuss the results with you. Results may take up to 6 weeks, but typically arrive within 30 days. If you haven't heard from your doctor more than 6 weeks after your sample was taken, reach out to their office to find out if your results are in. If you have questions about your results that your doctor cannot answer, a genetic counselor may be able to provide more insight. You can ask your Patient Liaison to put you in touch with a genetic counselor at no cost to you. All participants whose doctor orders the genetic test will receive results, which may be "Positive," "Negative," or "Inconclusive."
Who is eligible to participate in ID YOUR IRD?
ID YOUR IRD is open to U.S. residents with symptoms associated with certain rod-mediated IRDs, whose participation is authorized by their physician. Take our quick, 4-question screener to see whether you might be a good candidate for the initiative.
What if I take the screener and it says I'm not eligible for the ID YOUR IRD initiative?
While the ID YOUR IRD gene panel is not equipped to give information on all IRDs, other genetic tests might be useful to you. You may also contact a Patient Liaison from Spark Therapeutics who can help answer your questions about the initiative. Your doctor is always your first point of contact for any additional questions about genetic testing that you may have. You can also access additional resources on IRDs and genetic testing information, including aSharedVision.com, on the RESOURCES page. On aSharedVision, families, specialists, and advocates share stories and advice about living with IRDs. Signing up for the newsletter at aSharedVision can help you stay up-to-date.
What kind of doctor should I see to discuss genetic testing?
People wishing to participate in the ID YOUR IRD gene testing initiative must meet specific eligibility criteria and be authorized by their physician to do so. Your authorizing physician does not need to be an expert in inherited retinal diseases. However, your physician should be one who is familiar with your condition and licensed to practice in the U.S. A Patient Liaison at Spark Therapeutics can answer questions about the initiative and help determine whether you may be a good candidate for ID YOUR IRD.
Is there a cost associated with the ID YOUR IRD gene testing initiative?
Eligible participants will receive genetic testing and optional, confidential genetic counseling sessions at no cost to them regardless of their insurance status. Participation in the ID YOUR IRD gene testing initiative is subject to the terms and conditions of the program, and is open to U.S. residents only. Although participants will not pay for the costs of genetic testing offered by the initiative or the optional genetic counseling, participants are responsible for any other costs they may incur, such as doctors visits.
Will my test results be kept confidential?
Participation in ID YOUR IRD is subject to the terms and conditions of the program. In order to participate you will be asked to agree in writing that your test results and other information that identifies you, will be provided to Spark Therapeutics, the sponsor of the ID YOUR IRD initiative. Spark will only use this information for the purposes described in the terms and conditions, namely informational and educational use. Spark will not use or disclose your information for any other purpose or to any other person. Please read the complete terms and conditions here.
How is ID YOUR IRD genetic testing different than programs like AncestryDNA and 23andMe?
While programs like AncestryDNA and 23andMe can provide insight into your family's ethnic origins and some health risks, their primary focus isn't on causes of disease in an individual. The ID YOUR IRD genetic test may identify changes or mutations in specific genes. For those with an inherited retinal disease, ID YOUR IRD genetic testing may identify the cause of vision impairment and help explain how and why a disease affects you.
How would my blood or saliva sample be obtained for testing?
Once your eligibility to participate is confirmed and your participation is authorized by your doctor, set up an appointment at your doctor's office to have your blood or saliva sample taken. (NOTE: saliva is collected in a custom vial, not through a cheek swab). Your doctor then sends your sample to PreventionGenetics for testing.
What is the difference between giving a blood or a saliva sample?
When it comes to your test results, there is no difference at all. Blood samples are the traditional method of gaining a DNA sample for analysis, but some people might prefer a less invasive method. Saliva is collected in a custom vial, not through a cheek swab. Saliva samples are just as viable for DNA analysis. If you have a particular preference for one way over another, arrange with your doctor beforehand to be sure they have that type of test kit available.
What are the benefits of genetic counseling? Do they go beyond family planning?
Even if you've already had kids or don't plan on having them, genetic counseling can help you better prepare for the future. Genetic test results can sometimes be unclear or hard to interpret, but your genetic counselor will walk you through what genetic testing may be able to offer you, give you insight into your test results, and help you understand and adapt to the medical, psychological and familial implications of genetic conditions. Genetic counseling can help you and your doctor make more informed decisions based on complex genetic information.
When can I expect to connect with a genetic counselor through ID YOUR IRD?
As soon as your eligibility is confirmed and your doctor has authorized your test, you can schedule an appointment to speak with one of our genetic counselors as soon and as frequently as you would like to. Some people like to speak with a genetic counselor as soon as possible, while others find it useful to wait until after they have received their test results, as this might help them to gain deeper insight into what the results mean and what opportunities might be open to them.
There is a genetic counselor who works with my IRD doctor who has contacted me about genetic counseling. Is this counseling covered by the ID YOUR IRD initiative?
No, only the cost of telephone consultations with genetic counselors that your Patient Liaison connects you with are covered by the initiative. Contact a Patient Liaison if you have any questions about the genetic counseling offered under ID YOUR IRD.
How, where, and when do I get my test results?
The results of your genetic test should be conveyed to you by your doctor. Results may take up to 6 weeks, but typically arrive within 30 days and are sent to your doctor's office. If you haven't heard from your doctor 6 weeks or more after having your sample taken, reach out to their office to find out if your results are in. If you are having trouble obtaining your results, contact your Patient Liaison.
Who receives my test results?
PreventionGenetics always sends your test results back to the doctor who authorized the test and submitted your blood or saliva sample. In accordance with your consent to participate in the ID YOUR IRD initiative under its terms and conditions, your genetic test results will also be shared with Spark Therapeutics.
What if I don't understand my results?
Genetic test results can sometimes be unclear or hard to interpret, but a genetic counselor can walk you through them and help you understand the medical, psychological and familial implications of your results. Contact your Patient Liaison for more information on genetic counseling.
My results were inconclusive. What now?
An inconclusive result (also known as a "variant of uncertain significance") means that one or more mutations were found, but it is not yet known whether these mutations cause disease. An inconclusive test result does not rule out the diagnosis for an IRD and, with time, research may reveal more information about these variants and their association with IRDs. Genetic counseling may help you better understand what an inconclusive result might mean. Additional testing may also provide more information. Please note that any costs incurred for additional testing are NOT covered by the ID YOUR IRD initiative.
Is the ID YOUR IRD genetic testing initiative linked to a clinical trial?
No, the ID YOUR IRD gene testing initiative is not associated with any trial.
Why does the ID YOUR IRD panel only test for 31 genes?
The ID YOUR IRD testing panel is specifically designed to focus only on a limited number of validated gene mutations that have been found to cause certain early-onset, rod-mediated IRDs.
What if my doctor isn't familiar with genetic testing or ID YOUR IRD?
That's okay. Your doctor doesn't need to be familiar with the program or genetic testing in order to help you decide if you should participate in the program or order your genetic test. While you'll receive your test results from your doctor, a genetic counselor is available to you upon request to help interpret your test results. Any doctor can contact a Patient Liaison from Spark Therapeutics to learn about the initiative. When results are available, doctors are strongly encouraged to speak to a genetic specialist from PreventionGenetics, to review the information and get answers to questions. This is an important benefit of the service offered to doctors by Spark Therapeutics. Unsure what to tell your doctor about ID YOUR IRD? You may want to share the ID YOUR IRD website with them and suggest they review the Doctor Essentials guide. It contains information on your doctor's role, a guide for determining patient eligibility, and more.