My Retina Tracker Program
No-cost My Retina Tracker Program now available for all eligible patients with an IRD in the USA

My Retina Tracker Program

Open for ordering October 21st.

The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA®, offers an open access, no-cost genetic testing program called the My Retina Tracker Program® starting October 21st. This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). The revised eligibility criteria are listed below in ”Who is Eligible for Testing.”

The program offers people with an IRD access to the highest quality genetic testing and genetic counseling. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry. This gives individuals the opportunity to contribute to research, development and the opportunity of being contacted about relevant clinical trials.

The program provides patients with a 285 gene panel targeting relevant genes associated with IRD. Unique features of the panel include full RPGR coverage, high resolution copy number variant detection and comprehensive coverage of IRD related non-coding variants. The program offers no-charge genetic counseling through InformedDNA, the leader in counseling individuals and families affected by IRDs.

Ordering is easy through Blueprint’s online portal, Nucleus. Results can be viewed in Nucleus approximately 4 weeks after Blueprint Genetics receives the sample.

Why select My Retina Tracker Program for your patient with an IRD?

  • The program is based on an existing My Retina Tracker Registry study that has been developed and utilized by leaders in the field of IRD genetics and therapeutics.
  • To date, over six thousand people with IRD have participated in this program, leading to a powerful genotype/phenotype database, and experienced genetic counselors to help guide your patients through the testing process.
  • The genetic test represents the best IRD diagnostic panel on the market today. It includes excellent coverage of the essential RPGR gene, including the ORF15 difficult to analyze region, high-resolution copy number variant (CNV) detection and known disease-causing non-coding variants.
  • Eligible individuals also receive no-charge genetic counseling through InformedDNA whose genetic counselors are experienced in providing genetic test interpretation and counseling to thousands of patients with IRD in comprehensive, individualized sessions.
  • Your patient has the opportunity to enroll in the Foundation Fighting Blindness My Retina Tracker Registry during the counseling session and in doing so support research, development in the field of IRD diagnostics, and have the opportunity of being contacted about relevant clinical trials.
Who is eligible for testing?
  • The person is clinically diagnosed with one of the inherited retinal degenerative diseases listed at the bottom of the page.
  • The person lives in the USA.
  • The person has not had any of the following types of genetic testing since 2016:
    1) A test that examined more than 32 IRD-related genes
    2) A whole exome genetic test
    3) A whole genome genetic test
  • The person does not solely have any of the following diagnoses:
    1) Age-related macular degeneration
    2) Glaucoma
    3) Optic neuropathy
    4) Cornea/anterior chamber disease
    5) Diabetic eye disease
    6) Non-genetic ocular or retinal damage diagnosis not listed in the requisition.

Please note, this test is not suitable for, and should not be used to, screen for eye diseases in general, it is only for use in identifying the causative gene for a confirmed clinical diagnosis of an IRD.

What is the My Retina Tracker Panel?
  • The My Retina Tracker Program uses the Blueprint Genetics’ Retinal Dystrophy Panel that is currently being updated to include 285 relevant genes.
  • The panel includes excellent coverage of the RPGR ORF15 region, which is critical in retinitis pigmentosa diagnostics.
  • The My Retina Tracker Panel includes high resolution copy number variation (CNV) detection that is based on Blueprint’s customized and validated solutions. According to in-house research, approximately 5% of all patients with IRD have a CNV with a large proportion of the CNVs being very small (1-2 exons in size).
  • The test offers comprehensive coverage of IRD related non-coding variants that are not included in most commercially available IRD genetic tests.
  • Analytic validation of the diagnostic platform is available here.

Why should patients with IRD consider genetic testing?

Genetic testing may confirm a clinical diagnosis or clarify a diagnosis that was previously unclear. A confirmed genetic diagnosis:

  • May help understand prognosis and guide medical management
  • May provide access to an existing therapy or an ongoing clinical trial
  • May help family members understand their own risks and assist with family planning
  • May provide access to appropriate support services such as patient advocacy organizations
  • Will increase our knowledge of the prevalence of the specific gene variants that cause an IRD, which is key data in the understanding of the IRD and the development of therapeutics
Order no-cost My Retina Tracker Panel online on October 21st
#GeneticKnowledge

Blueprint Genetics developed Nucleus to gain, share, and build life changing genetic knowledge.

How do I order the My Retina Tracker Panel for my patient with IRD?

The no-cost My Retina Tracker panel can be ordered online using Nucleus, Blueprint Genetics’ online portal starting October 21st.
  • To place the order, log in to nucleus.blueprintgenetics.com. If you are a new user, create an online account free-of-charge.
  • Select medical specialty “Ophthalmology” and then select “My Retina Tracker” Program panel.
  • Fill in the requisition form and submit. A printed copy of the order is not required.
  • Provide Blueprint Genetics the Sponsored Genetic Testing Informed Consent form signed by the patient (upload into Nucleus, fax or send with the patient sample).
  • For further assistance, please contact support.us@blueprintgenetics.com.
My Retina Tracker program sample collection kits with pre-paid return shipment labels can be ordered under ‘Testing with us’ in the top menu of our website.
  • The sample collection tube should be labeled with the patient name, date of birth and collection date.
  • The patient must sign the Sponsored Testing Program Informed Consent. This form can be uploaded into Nucleus, sent to Blueprint Genetics with the sample or faxed. See all contact details for our client support team here.
  • An email alert will be sent to you when test results are ready. Results can then be accessed through your Nucleus account. You may also request results via fax.

More information about ordering and sample requirements can be found here. A user guide to Nucleus can be found here.

What are patients consenting to if they participate in this testing?

  • They are agreeing to have a genetic test that might cause their IRD and receive genetic counseling to explain the test result
  • They are agreeing to the terms of the Sponsored Testing Program Informed Consent form available here. This form must be returned to Blueprint Genetics. This consent states:
    • Blueprint Genetics will only share deidentified patient data with Sponsors.
    • Deidentified patient data is limited to the clinical diagnosis, age range of the patient, gender and genes and variants associated with IRD. No patient identifiable information or raw data sequence data will be shared.
    • We may share information on the health care provider taking care of the patient, such as the health care provider’s contact information.
    • Accepted Sponsors are organizations that have ethically and/or regulatory approved clinical studies, trials or treatments related to IRD.
    • 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.
  • Patients can withdraw their consent any time by contacting Blueprint Genetics. See Contact information here.
  • Patients enrolling in the My Retina Tracker Registry will also consent to the terms of the My Retina Tracker consent form found here. More information about the Registry is available here.
What is the My Retina Tracker Registry?

My Retina Tracker Registry is the Foundation Fighting Blindness patient registry for people affected with an IRD such as retinitis pigmentosa, Usher syndrome and Stargardt. The Foundation Fighting Blindness is a non-profit organization dedicated to finding treatments and cures for IRD.

The purpose of the My Retina Tracker Registry is to accelerate the delivery of therapies for IRDs by determining the causes and prevalence of the different IRD, supporting the research community to actively collaborate and promote research and development in the field of IRD and efficiently enable people to connect to relevant clinical trials.

My Retina Tracker is free to join and participate in. Any person with a clinical diagnosis of an IRD may join. The Registry protocol has been approved by the Western Institutional Review Board.

Why would your patient want to join the My Retina Tracker registry?
  • The My Retina Tracker registry data drives more research
  • More registrants with a specific IRD draw researchers’ focus and help support study and trial planning and funding
  • Registrants enter and control their own data and can withdrawal at any time
  • Registrants have improved access to announcements regarding focus groups, disease progression studies, genetic studies and clinical trials recruitment and updates

InformedDNA genetic counselors in this program will offer assistance with enrollment in the registry to participants in the open access genetic testing program. However, individuals who are affected can register on their own at any time. Read more about registering here.

What are the benefits of receiving Genetic Counseling by InformedDNA?

Patients are eligible for no-cost genetic counseling through the My Retina Tracker program. Patients receive their genetic test results as part of a comprehensive genetic counseling appointment personalized to the patients’ needs. InformedDNA genetic counselors discuss the implications of genetic testing, including the impact to family members, and provide support for at-risk family members. Genetic counseling through InformedDNA is subject to a separate informed consent, available here.

Physicians who use the InformedDNA genetic counseling services through this program receive a detailed 3-4 generation family history and summary report with individualized medical management recommendations for every patient.

InformedDNA has a team of genetic counselors who are experts in IRD genetics, with an average of >8 years of clinical experience. This expertise is highly valued by the patient community, leading to >95% patient satisfaction scores.

Family Member Testing

The My Retina Tracker program does not currently offer no-cost family member testing as the program is focused on offering no-cost high quality genetic testing and genetic counseling for patients with IRD with no established genetic diagnosis.

Blueprint Genetics offers several billing models for family members that would like to be tested. Read more about Familial Variant Testing or contact our Support team at support.us@blueprintgenetics.com for further assistance.

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, ISO15189 accredited next generation sequencing laboratory and all offered panels have CE IVD marking. More information can be found at: blueprintgenetics.com/about-us.

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 non-profit 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 U.S. 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.

List of current sponsors of the program

  • Foundation Fighting Blindness
Inherited retinal degenerative diseases: Eligible diagnoses
  • achromatopsia
  • adult foveomacular vitelliform dystrophy
  • Alstrom disease
  • Bardet-Biedl syndrome (Laurence-Moon syndrome)
  • Best disease
  • Bietti crystalline corneoretinal dystrophy
  • choroidal dystrophy
  • choroideremia
  • 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

 

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  • 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

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