Identify, Inform, and Empower.
The doctor's guide to ID YOUR IRD.
ID YOUR IRD is a Spark Therapeutics initiative designed to provide access to genetic testing for eligible U.S. residents with certain inherited retinal diseases (IRDs) at no cost to them, subject to the terms and conditions of the program.
Understanding of genetic mutations, including those that can cause IRDs, is continually evolving—and so are the methods used for genetic testing. With the identification of new genes, and the growing focus on gene therapy research, genetic testing may provide valuable insight into a patient's vision impairment. Our testing panel includes 31 genes in which mutations have been found to cause certain early-onset, rod-mediated IRDs. While it will not be able to provide genetic information to everyone with an IRD, the initiative aims to inform as many people as possible. Participation is subject to the terms and conditions of the ID YOUR IRD initiative.
Spark Therapeutics has partnered with PreventionGenetics, a CLIA- and ISO-accredited laboratory, to provide the genetic testing at no cost to your patients. Regardless of insurance status, ID YOUR IRD genetic testing offered by the initiative and optional, confidential genetic counseling will be available free of charge to all eligible U.S. residents, subject to the terms and conditions of the program. Participant information is confidential and Spark Therapeutics will not share it, nor use it for any purpose, without participant authorization.
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Doctors play an important role in this gene testing initiative.
Doctors with appropriate patient candidates for the ID YOUR IRD initiative are their patients' main companion during the genetic testing journey, and will help identify, inform, and empower. It is always the doctor's role to confirm eligibility and authorize their patient's participation, if appropriate, in the ID YOUR IRD gene testing initiative.
Patient Eligibility Assessment.
The ID YOUR IRD assessment guide is a simple set of criteria that doctors can use to determine a patient's eligibility when reviewing past medical records. The assessment guide is included in our Doctor Essentials.
aAny 1 of 6 criteria in the diagnostic pathway with onset of symptoms less than 30 years of age enables patient to meet the eligibility criteria to receive a subsidized genetic test panel.
(Note: the current age of the patient may be > 30)
bLight-seeking behavior (typically less than 3 years of age); night blindness or decreased ability to see in dim light (any age).4
cPrior history of a positive genetic test for IRDs from a certified diagnostic laboratory.
dRod-cone dystrophy; SECORD; EOSRD; ECRP, congenital stationary night blindness.1,3
eE.g., hearing loss, renal impairment, polydactyly, severe brain abnormalities.1
Participation in ID YOUR IRD is subject to the terms and conditions of the intiative which can be found at IDYOURIRD.com
Abbreviations: ECRP, early childhood onset retinitis pigmentosa; EOSRD, early onset severe retinal dystrophy; SECORD, severe early childhood onset retinal dystrophy.
References: 1. Chacon-Camacho OF et al. World J Clin Cases. 2015; 3(2):112-24. 2. Cideciyan AV. Prog Retin Eye Res. 2010;29(5):398-427. 3. Weleber RG et al. Invest Ophthalmol Vis Sci. 2011;52(1):292-302. 4. Nash et al. Transl Pediatr. 2015;4(2):139-63. 5. Maguire AM et al. N Engl J Med. 2008;358(21):2240-8. 6. Morimura H et al. Proc Natl Acad Sci USA. 1998;95(6):3088-93.
When patients need information, they look to their doctor. And when doctors are walking patients and their parent/legal guardian through the genetic testing process, it could help to have the ID YOUR IRD guide for patients and caregivers readily available. It contains an overview of the testing initiative, information on genetic testing, and a patient/doctor conversation guide.DOWNLOAD
Doctors can help eligible patients get in touch with a Patient Liaison from Spark Therapeutics. While it is your role to confirm eligibility and authorize your patient's participation in ID YOUR IRD, Patient Liaisons are available to help answer your patient's questions and will help them to understand the consent process that is necessary for enrollment in the initiative. Note that in so doing, Patient Liaisons will have access to confidential patient information. They can also serve as a useful resource for answering questions you may have about the ID YOUR IRD gene testing initiative.PATIENT
ORDERING THE TEST
PreventionGenetics, a CLIA- and ISO-accredited laboratory, will provide doctors with a sample collection kit. Within this kit you will find a consent form to be completed by your patient or their parent/legal guardian. This form must be completed in order for your patient to participate in this initiative. Once a patient's blood or saliva sample is collected, doctors simply ship the sample to PreventionGenetics for analysis (NOTE: saliva is collected in a custom vial, not through a cheek swab). Prepaid return shipping materials are included in the collection kit. Test results can take up to 6 weeks, but typically arrive within 30 days.ORDER TEST
When results are available, doctors are strongly encouraged to speak to a genetic specialist from PreventionGenetics, a CLIA- and ISO-accredited laboratory, to review the information and get answers to questions. This is an important benefit of the service offered to doctors by Spark Therapeutics.
ID YOUR IRD could provide important insight into a patient's IRD—and doctors can help empower their patients' future decisions by making sure they and their families fully understand these results and any available options. It cannot give genetic information to everyone with an IRD, but the initiative aims to help inform as many people as possible.
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 for your patient.
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.
Download Doctor Essentials.
GET ID YOUR IRD RESOURCES AND INFORMATION.
- Doctor's ID YOUR IRD overview
- ID YOUR IRD gene panel
- Patient eligibility assessment
- Patient and Caregiver guide to the
ID YOUR IRD initiative
- The full ID YOUR IRD terms and conditions
A Patient Liaison from Spark Therapeutics may help provide answers.