My Retina Tracker Genetic Testing Program
A program committed to ensuring patients with IRD have access to testing and support
An open-access program delivering no-cost, high-coverage diagnostic testing and genetic counseling for individuals affected by Inherited Retinal Disease (IRD).

High-coverage genetic testing

  • The My Retina Tracker Program Panel, offered 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
  • Analytic validation of our diagnostic platform is available here

Learn more about our My Retina Tracker Program Panel and request a sample collection kit for your patient here

 

Comprehensive genetic counseling

  • When requested by the ordering clinician in Nucleus, our online ordering system, the My Retina Tracker Program includes complimentary post-test genetic counseling services through InformedDNA conducted in a remote telehealth environment
  • InformedDNA will review the patient’s medical and family history, provide an interpretation of any genetic variants resulted by Blueprint Genetics and their correlation with disease, and discuss any medical management recommendations
  • During the counseling session, the patient will be offered an invitation to enroll in the My Retina Tracker® Registry. InformedDNA’s genetic counseling team can easily complete the registration on their behalf
  • 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 is a patient-controlled database offered by the Foundation Fighting Blindness which contains over 20,000 active participants
  • There is no cost to join, and all information shared is deidentified
  • An IRD-diagnosed patient can join the Registry any time, even if they have not been tested through the My Retina Tracker Program

Benefits include:

  • Access to information around relevant genetic therapies and clinical trials
  • Connection to the IRD community and events
  • Help accelerate research and the discovery of IRD treatments and cures
  • Track natural history of IRDs and conduct population studies
  • Registrants can control their own data and can withdraw at any time

Discover more and easily register at fightingblindness.org/my-retina-tracker-registry

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 since 2016
  • Live in the United States or a US territory

Only 1 proband per family will be offered at no cost through the MRT program. Low-cost family member testing is available. Learn more about Familial Variant Testing or contact our Support Team at support.us@blueprintgenetics.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.

Eligible inherited retinal degenerative diseases include:
  • Achromatopsia
  • Adult foveomacular vitelliform dystrophy
  • Alstrom disease
  • Bardet-Biedl syndrome (Laurence-Moon syndrome)
  • Best disease
  • Bietti crystalline corneoretinal dystrophy
  • Choroidal dystrophy
  • Choroideremia
  • 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

  • Eligible patients are requested to authorize an Informed Consent document, a copy of which is included in every sample collection kit. It can also be downloaded here 
  • No patient identifiable information or raw sequence data will be shared outside of the program. Blueprint Genetics will only share deidentified patient data with the program’s Scientific Collaborators. Scientific Collaborators can be biopharmaceutical companies, their affiliates and partners, research organizations, and patient advocacies 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 or identifiable research data will be shared with third parties without express permission from the patient
  • See additional details below
Take part in all that the My Retina Tracker Genetic Testing Program has to offer your patients with IRD

Current Scientific Collaborators of the program include: ProQR Therapeutics, AGTC, and Spark Therapeutics

Financial support for the My Retina Tracker Registry is provided in part by Foundation Fighting Blindness, George Gund Foundation, Sofia Sees Hope, MeiraGTx, Eloxx Pharmaceuticals, and AGTC

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.

About InformedDNA

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 ProQR Therapeutics

ProQR Therapeutics is a company dedicated to changing lives through the creation of transformative RNA therapies. We focus on developing therapies for inherited retinal diseases including Leber’s congenital amaurosis 10, Usher syndrome, and autosomal dominant retinitis pigmentosa. Based on our unique RNA repair technologies and with our strong commitment to the communities we serve we are growing our pipeline with patients and loved ones in mind. More information can be found at www.ProQR.com.

About AGTC

AGTC is a clinical-stage biotechnology company developing genetic therapies for people with rare and debilitating ophthalmic, otologic and central nervous system (CNS) diseases. AGTC is a leader in designing and constructing all critical gene therapy elements and bringing them together to develop customized therapies that address real patient needs. The Company’s most advanced clinical programs leverage its best-in-class technology platform to potentially improve vision for patients with inherited retinal diseases. More information can be found at www.agtc.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

 

Privacy Policy – Genetic Testing Program

Last updated: April, 20, 2022

 

FOR HEALTHCARE PROVIDERS

Note: This section applies to ordering healthcare providers only. If you are a patient, please see the section “For Patients” below. Please note that this Privacy Policy supplements our Notice of Privacy Practices, available at www.blueprintgenetics.com/privacy

As a part of the Program, we collect, use, and share certain data about you with the Scientific Collaborators. These data may include:

  • Name
  • 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 are 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

 

How can I exercise my rights?

See section “For Healthcare Providers and Patients” below.

 

FOR PATIENTS

We use your personal data as set forth in the Genetic Testing Program Informed Consent. Your information will not be used for any other purposes without your explicit prior consent.

For some frequently asked questions about patient privacy, please see the FAQ below.

 

Patient FAQ

Q: Do you share my information with the Foundation Fighting Blindness?

A: Unless separately authorized by you, Blueprint Genetics will only share deidentified data as explained in the Informed Consent Form.

If you are a member of My Retina Tracker, the Foundation’s inherited retinal disease registry, or if you choose to join My Retina Tracker, we will share your genetic data with My Retina Tracker and it will be placed in your My Retina Tracker profile for you. This additional information will assist the Foundation in alerting you to relevant research opportunities.

 

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?

A: No. We respect and protect your privacy.

 

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

There is no additional cost for the genetic counseling, if you select the free counseling through our partner InformedDNA.

There may be an additional cost if your doctor determines that additional testing is required to reach a clinical diagnosis of an IRD.

There may be an additional cost if your doctor decides to charge you for a clinical visit to order the test.

There may be an additional cost for the genetic counseling if your doctor chooses to provide the counseling or refer you to a genetic counselor who is not part of this study. You can avoid this cost by requesting your doctor order the genetic counseling included in this study at no-charge.

The My Retina Tracker Registry is a free registry funded by the Foundation Fighting Blindness. If you choose to join the My Retina Tracker Registry, there is no cost.

 

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Last modified: June 13, 2022