Individuals affected by Inherited Retinal Disease (IRD) can take part in this no-cost program offering access to high-coverage diagnostic testing, genetic counseling, and connection to a growing IRD registry.
High-coverage genetic testing
- The My Retina Tracker Program Panel, provided within this program by Blueprint Genetics, is a carefully curated 351-gene panel targeting relevant genes associated with IRDs
- This comprehensive, high-coverage panel uniquely includes the entire mitochondrial genome (mtDNA) and full RPGR coverage, including the difficult-to-sequence ORF15 region, which is critical in retinitis pigmentosa diagnostics
- The panel includes high resolution copy number variant (CNV) detection, and coverage of IRD-related noncoding variants not routinely included in other commercially available IRD genetic tests
Learn more about our My Retina Tracker Program Panel and request a sample collection kit for your patient here
Comprehensive genetic counseling
- When the ordering clinician opts into this service during the order process in Nucleus, our online ordering system, the My Retina Tracker® Program includes post-test genetic counseling services through InformedDNA conducted in a remote telehealth environment
- InformedDNA will review the patient’s medical and family history, discuss the genetic testing report with the patient as it relates to their symptoms, and discuss any medical management recommendations
- Following the session, a formal summary report and a detailed pedigree will be provided to the patient and their clinician
My Retina Tracker Registry
- The My Retina Tracker Registry, curated by the Foundation Fighting Blindness (the Foundation), contains over 24,000 active participants. There is no cost to join
- All required steps, inclusive of access to consents and registration questions, will now be included in the test order process. Therefore, once the order is complete, and the required forms have been returned the patient will be enrolled in the Registry automatically
- With the required Registry consent once returned along with the patient’s information, collected as part of the Nucleus test requisition process, will be shared with the Foundation’s Registry team facilitating the registration
Participation in the Registry allows patients to:
- Gain access to research opportunities including announcements about clinical trials and other research studies
- Connect to the IRD community through Foundation-sponsored educational activities
- Help accelerate research and the discovery of treatments for IRDs
Registrants control their own data and can withdraw at any time. However, if registrants withdraw before testing is completed, they will not be eligible for the no-cost program.
Discover more at MyRetinaTracker.org
Eligibility for no-cost genetic testing
Qualifying patients must:
- Be clinically diagnosed with one of the inherited retinal degenerative diseases listed below
- Not have undergone genetic testing with a panel consisting of 32 or more IRD-related genes within the last 3 years
- Not have received an IRD-related molecular diagnosis from any previous genetic testing
- Live in the United States or a US territory
Only 1 proband per family will be offered at no cost through the My Retina Tracker program. Low-cost family member testing is available. Learn more about Familial Variant Testing or contact our Support Team at email@example.com for further assistance.
This test is not a screening tool and cannot be used for attempted molecular diagnosis of age-related macular degeneration, glaucoma, optic neuropathy, cornea/anterior chamber disease, diabetic eye disease, and nongenetic ocular or retinal damage diagnosis not listed in the requisition.
- Adult foveomacular vitelliform dystrophy
- Alstrom disease
- Bardet-Biedl syndrome (Laurence-Moon syndrome)
- Best disease
- Bietti crystalline corneoretinal dystrophy
- Choroidal dystrophy
- Cohen syndrome
- Cone dystrophy
- Cone monochromacy
- Cone-rod dystrophy
- Congenital stationary night blindness
- Fundus albipunctatus
- Fundus flavimaculatis
- Goldman-Favre vitreoretinal dystrophy (enhanced s-cone syndrome)
- Gyrate atrophy
- Jalili syndrome
- Late-onset retinal degeneration (L-ORD)
- Leber congenital amaurosis
- Macular dystrophy – juvenile inherited only
- Pattern dystrophy
- Refsum syndrome
- Retinitis pigmentosa
- Retinitis pigmentosa atypical
- Retinitis punctata albescens
- Retinoschisis – juvenile
- Rod dystrophy
- Rod monochromacy
- Stargardt disease
- Usher syndrome unspecified
- Usher syndrome – type I
- Usher syndrome – type II
- Usher syndrome – type III
Informed consent and privacy
- The Foundation My Retina Tracker Registry consent and HIPAA Authorization Form allows your patient’s information collected as part of the Nucleus test requisition process to be shared with the Foundation’s Registry team for registration purposes, as well as participant’s deidentified information to be shared with the Foundation’s research partners for scientific purposes
- Blueprint Genetics consent notifies participants that only deidentified patient data will be shared with the program’s Scientific Collaborators. Scientific Collaborators can be biopharmaceutical companies, their affiliates and partners, research organizations, and patient advocates engaged in approved research, studies, and clinical trials related to inherited retinal diseases and in delivering therapies and treatments for these diseases. Examples of deidentified patient data are clinical diagnosis, age range, sex, and genes or variants associated with IRD. Contact information of the healthcare provider associated with the patient may also be shared as needed
- Blueprint Genetics may use the samples and data internally to improve the understanding and diagnostics of IRD
- No samples, identifiable research data, or raw sequence data will be shared with third parties outside of the program without express permission from the patient
About Foundation Fighting Blindness
The Foundation Fighting Blindness was established in 1971 by a passionate group of families driven to find treatments and cures for inherited retinal diseases that were affecting their loved ones. Today, this nonprofit organization is the world’s leading private funder of IRD research. Annually, the Foundation funds more than 100 research grants that support over 150 IRD researchers in the USA and internationally. The Foundation funds innovative and cutting-edge research in promising areas such as genetics, gene and stem-cell therapies, retinal cell transplantation, and pharmaceutical and nutritional therapies. The Foundation’s funding often provides the critical bridge between discovery research, proof of concept, and corporate investment in clinical trials and commercialization. More information can be found at fightingblindness.org/about/about-us.
InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest full-time staff of lab-independent, board-certified genetics specialists in the US to help ensure health plans, hospitals, employers, clinicians and patients all have access to the highest-quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and clinical trial support. More information can be found at www.InformedDNA.com.
About Spark Therapeutics
At Spark Therapeutics, a fully integrated commercial company, we are committed to challenging the inevitability of genetic disease by discovering, developing, and delivering potential treatments in ways unimaginable. At Spark, a member of the Roche Group, we see the path to a world where no life is limited by genetic disease. For more information, visit www.sparktx.com, and follow us on Twitter and LinkedIn.
About Blueprint Genetics
Blueprint Genetics is a genetic diagnostics company focused on human rare disease. Originally a Stanford University spin-off, the company founders used innovative technologies to improve the quality and performance of genetic tests and thus increased diagnostic yields. Blueprint Genetics has become one of the leaders in IRD genetic diagnostics and performs testing for thousands of IRD patients annually. Blueprint Genetics is a CLIA-certified, CAP-accredited next-generation sequencing laboratory. More information can be found at: blueprintgenetics.com/about-us.
Genetic Testing Program Terms > PDF
Last updated: March 2023
FOR HEALTHCARE PROVIDERS
As a part of the Program, we collect, use, and share certain data about you with the Scientific Collaborators. These data may include:
- Job title
- Contact information
- Healthcare facility
How will you use my personal information?
We use your information to process your orders and to pass on your details to the Scientific Collaborators. Where appropriate, our representatives may contact you as part of conventional customer relationship management. We may send you certain notifications by email if we consider these may be of great importance for you or your patients. Such notifications may relate to matters such as product, technology, pricing, or reimbursement changes. To improve our services, we may also use your personal information for our internal processes, such as marketing and sales reporting. Scientific Collaborators may contact you about ongoing or future studies and clinical trials related to your patients.
Is my personal data shared with third parties?
We may share your personal information with the Scientific Collaborators, a list of which is available on the Program webpage. The list will be updated from time to time.
We use a limited number of third-party service providers who process your personal data, such as data storage providers, customer relationship management services, and accounting services for billing purposes. They are committed to securing your privacy.
How long is my data retained?
We retain the personal data processed by us for as long as is considered necessary for the purpose for which it was collected and as long as we maintain an active customer relationship with you or your healthcare facility. In the absence of specific legal, regulatory, or contractual requirements, our baseline retention period for customer personal data is 5 years from last customer activity. Please note that we will not delete customers’ personal data as long as we retain their patients’ personal data.
How is my privacy secured?
We implement appropriate technical and organizational measures to protect your personal data from accidental or unlawful destruction, loss, alteration, and unauthorized disclosure or access. Such measures take into account the nature, scope, context and purposes of processing as well as the risk of varying likelihood and severity for your rights.
Such measures include, for example:
- Pseudonymization and encryption of personal data, where possible
- Training our employees and other staff regularly
- Using confidentiality undertakings with our employees and partners
- Using backup systems
- Implementing function-specific data privacy and security practices
- Physical safeguards
- Arranging third-party audits
- Encouraging our customers to use the safest possible methods for transferring personal data to us
- Regularly testing, assessing, and evaluating the effectiveness of technical and organizational measures for ensuring the security of the processing
For some frequently asked questions about patient privacy, please see the FAQ below.
Q: Do you share my information with the Foundation Fighting Blindness?
A: The Foundation My Retina Tracker Registry consent and HIPAA Authorization Form allows the information collected as part of the Nucleus test requisition process to be shared with the Foundation’s Registry team for registration purposes. This same consent allows your deidentified information to be shared with the Foundation’s research partners for scientific purposes.
Q: Do you collect more genetic data than you provide in the report to me and my clinician?
A: Yes. We mask all data that are not relevant to the gene panel test for inherited retinal disease and so do not look at them and as a result are unable to interpret it. However, you have a right to receive a copy of this data upon request.
Q: Do you share my raw genetic data with anyone else?
A: No. Your raw data, which may contain more information about you than what is included in the clinical report, are kept securely by Blueprint Genetics. Blueprint Genetics does not sell access to your raw genetic data.
You may ask Blueprint Genetics to provide those data to a third party. Upon your written consent, we will do so, but there may be additional costs to you or the third party.
Q: Will you share or sell my name, contact information, or other identifiable data to a third party outside the program?
A: No. We respect and protect your privacy in accordance with the consents provided.
Q: Are there any hidden costs I will be expected to pay?
A: There are no additional costs for the performance of the genetic test as part of this program.
There is no additional cost for the genetic counseling if your clinician selects the no-cost counseling through our partner InformedDNA as part of this program.
There may be an additional cost if your doctor determines that additional testing is required to reach a clinical diagnosis of an IRD, if your clinician charges you for the clinical visit to order the test, or if your clinician decides to utilize genetic counseling outside of the program.
There is no cost for joining the My Retina Tracker Registry. The My Retina Tracker Registry is a free registry funded by the Foundation Fighting Blindness.
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