Blueprint Genetics / My Retina Tracker Progra...
My Retina Tracker Program
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 322 gene panel targeting relevant genes associated with IRD. Unique features of the panel include the entire mitochondrial genome, 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.
Interested in learning more? In our recent webinar, the program is introduced in more detail.
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, analysis of the entire mitochondrial genome, 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.
- 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
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.
- The My Retina Tracker Program uses the Blueprint Genetics’ Retinal Dystrophy Panel that analyzes 322 relevant genes, including the mitochondrial genome.
- 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 our 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
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 firstname.lastname@example.org.
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.
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.
- 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 email@example.com for further assistance.
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.
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.
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 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.
List of current sponsors of the program
Financial support for the My Retina Tracker Registry is provided in part by
- Foundation Fighting Blindness
- George Gund Foundation
- Sofia Sees Hope
- Eloxx Pharmaceuticals
- 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
Program Terms for Sponsored Retinal Testing
Last updated: Oct 21, 2019
FOR HEALTHCARE PROVIDERS
As a part of the Program, we collect, use and share certain data about you with the Program Sponsors. This 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 Program Sponsors. Where appropriate, our representatives may contact you as part of conventional customer relationship management. We may send you certain notifications in email if consider these 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.
Is my personal data shared with third parties?
We may share your personal information with the Sponsors, 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 secure 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, 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:
- the 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.
We use your personal data as set forth in the Sponsored Genetic Testing Program Informed Consent. Your information will not be used for any other purposes without your prior explicit consent.
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: Unless separately authorized by you, Blueprint Genetics will only share de-identified data as explained in the 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 is not relevant to the gene panel test for inherited retinal disease and so do not look at it 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, is kept securely by Blueprint Genetics. Blueprint Genetics does not sell access to your raw genetic data.
You may ask Blueprint Genetics to provide that 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: That depends on your choices.
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 genetic counseling offered in this program through InformedDNA
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 the genetic counseling included at no cost in the study through InformedDNA.
My Retina Tracker is a free registry funded by the Foundation Fighting Blindness. If you choose to join My Retina Tracker, there is no cost.
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