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. 2020 Sep;184(3):838-845.
doi: 10.1002/ajmg.c.31825. Epub 2020 Aug 11.

Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation

Brian C Mansfield  1 , Benjamin R Yerxa  1 , Kari H Branham  2
Affiliations

Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation

Brian C Mansfield et al. Am J Med Genet C Semin Med Genet. 2020 Sep.

Abstract

The Foundation Fighting Blindness is a 50-year old 501c(3) non-profit organization dedicated to supporting the development of treatments and cures for people affected by the inherited retinal diseases (IRD), a group of clinical diagnoses that include orphan diseases such as retinitis pigmentosa, Usher syndrome, and Stargardt disease, among others. Over $760 M has been raised and invested in preclinical and clinical research and resources. Key resources include a multi-national clinical consortium, an international patient registry with over 15,700 members that is expanding rapidly, and an open access genetic testing program that provides no cost comprehensive genetic testing to people clinically diagnosed with an IRD living in the United States. These programs are described with particular focus on the challenges and outcomes of establishing the registry and genetic testing program.

Keywords: clinical consortium; inherited retinal diseases; open access genetic testing; patient registry; venture philanthropy.

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Figures

FIGURE 1
FIGURE 1
Structure of the My Retina Tracker Registry. People affected with an inherited retinal disease (IRD) join the Registry through a Member Portal https://www.fightingblindness.org/my‐retina‐tracker‐registry Following an online informed consent, members are presented with surveys to capture their objective experience of living with an IRD. During a visit to a clinician, the member can request the clinician enter the clinical ophthalmic exam results through a Clinician Portal on the same web site. To simplify use, clinical data entry is one way, requires no prior authorization, username or password, and initially enters a holding database. Clinical data is released from the holding database into the members profile once an algorithm run by the Registry Coordinator identifies a matching profile in the Registry database. Genetic testing data generated by the CLIA‐certified genetic testing partner lab can be downloaded electronically from the lab directly into the registry and matched to the correct member profile. Both the pdf genetic report and the complete set of sequence variants detected are transferred into the database along with their classification. Researchers, approved for access, can view and download de‐identified data either through a dedicated researcher portal or in collaboration with the Registry staff who may perform searches on their behalf
FIGURE 2
FIGURE 2
Composition of the My Retina Tracker Registry. The composition of the current Registry membership, by clinical diagnosis, for the 15,700 members with an online profile
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