My Retina Tracker Program

The My Retina Tracker^® Program provides no-cost genetic testing and genetic counseling for individuals with a clinical diagnosis of an inherited retinal disease (IRD). Targeted familial variant testing is also available to blood relatives of individuals who receive a positive result through the Program and meet certain criteria. This testing program is sponsored by the Foundation Fighting Blindness, a nonprofit organization dedicated to finding treatments for IRDs, and Spark Therapeutics. The genetic testing is performed at PreventionGenetics and the third-party genetic counseling services are provided by InformedDNA.

IRDs are characterized by severe and progressive vision loss and encompass a heterogeneous group of disorders and their associated symptoms. Vision loss can include night blindness, peripheral vision loss, central vision loss, sensitivity to light, and sometimes complete blindness. Collectively, IRDs are the leading cause of blindness in the western world, with an estimated 1:3500 people affected worldwide (Honany et al. 2024. PubMed ID: 37460155). Genetic testing is an important component of follow up care in IRDs and can facilitate cascade testing, provide prognostic information, and identify candidates for therapies and clinical trials (Lam et al. 2021. PubMed ID: 34906171).

To learn more about the clinical diagnoses associated with each gene on the panel, please click the link here.

Gene discovery for the cause of IRDs began in the late 1980's (McWilliam et al. 1989. PubMed ID: 2613244; Dryja et al. 1990. PubMed ID: 2215617), and for 30 years an average of 9 causative genes were identified each year; but since 2020, the number of new gene discoveries has begun to plateau, indicating the majority of IRD genes are already known (Ben-Yosef et al. 2022. PubMed ID: 36362249). While there are now over 300 genes that have been associated with retinal disease, studies have found that up to 70% of cases can be explained by the top 20 most commonly causative genes (Stone et al. 2017. PubMed ID: 28559085; Pontikos et al. 2020. PubMed ID: 32423767). In agreement with these studies, more than 97% of IRD patients who received a positive result in the My Retina Tracker Program between 2017-2023 had a variant in one of the 110 genes on this panel

Mode of inheritance depends on the causative gene, with autosomal recessive inheritance being the most common for IRDs (~45% of cases), followed by X-linked (~14%), and the remainder including autosomal dominant, mitochondrial, or in some cases, variable patterns of inheritance (Pontikos et al. 2020. PubMed ID: 32423767; Schneider et al. 2022. PubMed ID: 34839010).

To learn more about the inheritance of each gene in the panel, please click the link here

This test is performed using Next-Gen Sequencing (NGS) with additional Sanger sequencing as necessary. This panel has been validated to provide 99.64% coverage of all coding exons of the genes plus 10 bases of flanking non-coding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been reported in available databases. We define coverage as ≥20X NGS reads or Sanger sequencing.

Copy number variant (CNV) analysis of the NGS data is included. This panel has been validated to detect 92.86% of CNVs involving 1 exon and 100% of CNVs involving 2 or more exons.

Please note that analysis of RPGR exon 15 (commonly referred to as ORF15) has historically been difficult due to the highly repetitive, purine-rich sequence. However, saturating levels of capture-probes in ORF15 region have now enabled 100% sequencing coverage in the majority of cases. When NGS does not achieve full coverage or there is a variant detected by NGS that needs confirmation, then a specialized chemistry Sanger sequencing is utilized.

The NGS for this test also includes sequencing and analysis of three genes in the mitochondrial genome (MT-ND4, MT-ND6, MT-TL1) with an average read depth of >3,000x and a minimum acceptable read depth of 500x. Sensitivity for detection of low-level (4-10%) heteroplasmic single nucleotide variants is >99% based on validation studies. All reported mitochondrial variants are confirmed using a combination of long-range PCR and next generation sequencing.

Participants who undergo genetic testing with the My Retina Tracker Program's 110-gene panel must:

• Reside in the United States or a US territory.
• Have a clinically confirmed diagnosis of an IRD listed below.
• Have no first-degree relatives tested through the Program.
• Have no biological relatives who received informative tests results through the Program.^*
• Have not undergone genetic testing with a panel consisting of 32 or more IRD-related genes within the last 5 years, whole exome sequencing, or whole genome sequencing.
• Have not received an IRD-related molecular diagnosis from any previous genetic testing.
• Be willing to join the My Retina Tracker Registry and share their genetic testing results with the Registry.

^*Participants with biological relatives who received informative tests results through the Program may qualify for familial variant testing through the My Retina Tracker Program at no cost.

Participants who undergo genetic testing with the My Retina Tracker Genetic Testing Program's targeted familial variant testing must:

• Reside in the United States or a US territory.
• Have a blood relative tested through the Program who received an informative genetic testing result through PreventionGenetics.^*
• Have not undergone genetic testing with a panel consisting of 32 or more IRD-related genes within the last 5 years, whole exome sequencing, or whole genome sequencing.
• Have not received an IRD-related molecular diagnosis from any previous genetic testing.
• Be willing to join the My Retina Tracker Registry and share their genetic testing results, including PHI, with the Registry.

^*Of note, the familial variants must be sequence-based (nucleotide substitutions and indels) and within the nuclear genome to qualify for free testing and the participant must meet the following criteria based on the inheritance pattern of the gene identified in the proband:

• Dominant conditions: Targeted testing will be available to all blood relatives on the side of the symptomatic parent. If both parents are asymptomatic, targeted parental testing will be offered to determine if the case is a de novo variant. If one of the parents has the variant, targeted testing will be available to all blood relatives on that side of the family.
• Recessive conditions: Targeted testing will be available to all first-degree relatives (parents, full siblings).
• X-linked: Targeted testing will be available to mother, full male siblings, male maternal half-siblings, and male relatives on maternal side. If there is evidence of manifesting heterozygous women in the family history or the literature, targeted testing will be offered through the same pathway as dominant genes.

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

1. Apply for participation. Providers interested in participating in the My Retina Tracker Program must first submit an application to the Foundation Fighting Blindness at CLICK HERE for form.
2. Create a Program-specific Account at: myretinatrackerprogram.preventiongenetics.com. Of note, this step requires activation to finish setting up the account. The foundation will provide ordering access.
3. Share Program information with your patients. Upon approval, the Foundation will provide each ordering provider with a link to the Program webform. After the provider submits a completed webform, the patient will receive an email from the Foundation Fighting Blindness that includes links to the study flyer and patient FAQ. If the patient elects to move forward with enrollment, they can access the Study consent forms, HIPAA release form, and InformedDNA Consent for Services by clicking on the DocuSign button.
4. Download the patient's executed HIPAA release form. When the patient submits the electronic forms, the provider will receive an email that includes a copy of the executed HIPAA release form. This form will need to be downloaded and submitted as part of the Program's test requisition form.
5. Complete the test requisition form. Access the Program-specific ordering portal to complete the test requisition form. In addition to providing information about the patient's clinical presentation, providers will need to indicate their preference for genetic counseling and upload the HIPAA release form.
6. Choose where the sample will be collected. Providers can collect the sample for genetic testing in clinic or request that a sample collection kit be sent to the patient's home address as provided in the test requisition form.
7. The genetic test will be processed at PreventionGenetics and the results will be sent to the ordering healthcare provider on an average of 21 days after the lab receives the specimens. The patient will be counseled on their results by the ordering provider or a genetic counselor at InformedDNA.

Individuals in the US tested through My Retina Tracker Program are eligible for post-test genetic counseling to help them understand their test results. This service is provided through InformedDNA, a third-party genetic counseling service, and is made available by Foundation Fighting Blindness at no charge as part of the program. All Program participants must receive genetic counseling either from their provider or through InformedDNA.

Patients can access genetic counseling through InformedDNA by having their healthcare provider complete the genetic counseling section of the PreventionGenetics test requisition form in the My Retina Tracker Ordering Portal.

Patients will be contacted by InformedDNA to schedule an appointment, generally within 48-72 hours of receiving the referral form after results have been reported.

SPECIMEN REQUIREMENTS

Whole Blood

Collect 3 ml to 5 ml of whole blood in EDTA (purple top tube) or ACD (yellow top tube).

OCD-100 Buccal Swab (Preferred)

OCD-100 Buccal Swab used according to manufacturer instructions. Specimens may be shipped at room temperature.

Specimen collection kits: Buccal specimen collection kits, which contain the TRF and the shipping label, may be requested through the online order form.

Saliva

Oragene™ or GeneFiX™ Saliva Collection kit used according to manufacturer instructions. DNA from saliva specimens is invariably contaminated with microbial and food DNA, which can impact specimen quality and may result in delayed testing and/or the need for a second specimen.

SHIPPING AND HANDLING INSTRUCTIONS

Label the specimen container with the patient's name, date of birth, and/or ID number. At least two identifiers should be listed on the specimen container. Specimen deliveries are accepted Monday-Saturday for all specimen types. Holiday schedules will be posted on our website at least one week prior to major holidays.