July 28, 2015
Dear eyeGENE® Users,
We want to inform you of a change coming to the NEI eyeGENE® Initiative. At the end of 2015, we will be pausing receipt of new samples for diagnostic genotyping. We are doing this to focus activity on the research mission of eyeGENE®.
NEI initiated eyeGENE® a decade ago after consulting with many ophthalmic geneticists about how to stimulate the use of genetic testing for monogenic ocular diseases. A core purpose of eyeGENE® was to stimulate research and make samples available for research along with their associated genotypes. Now on the tenth anniversary of eyeGENE®, we are assessing the future pathway for this activity. Conditions have changed over the last ten years, and a number of commercial and academic ventures are conducting routine genotyping for ophthalmic disease. Hence a part of the eyeGENE® mission has been fulfilled, and testing remains available for patients with inherited ophthalmic disease through these venues.
As of December 31, 2015, we will stop accepting blood samples for genetic testing into the current sample collection. We ask that you anticipate this date for any patients who may want to enroll in eyeGENE® for its diagnostic services. Samples submitted prior to December 31, 2015 will continue through the process of diagnostic testing, be genotyped and entered into the current research collection.
This is not the end of eyeGENE®, however. This venture was created to support ocular disease studies through genetic diagnostics coupled with medical phenotyping. Resources are always limited, and we will focus efforts on filling out the medical information and phenotype information for the current participants. This is the next need to fulfill the research mission of eyeGENE®.
Also, at an appropriate time in the future, we anticipate that eyeGENE® may do disease-targeted sample collection. We encourage you to occasionally check back to our website for more information.
We want to take this opportunity to thank you for contributing to this research program. eyeGENE® now has samples from approximately 6,000 participants available for access through the research arm of the program. eyeGENE® will continue to support and initiate research with this valuable collection.
We will be asking your assistance for this research phase of eyeGENE®. The Precision Medicine Initiative, which President Obama announced in his State of the Union Address in January 2015, has focused attention on accurate medical information to couple to genotypes. This information forms the critical basis for medical research. To that end, we will be asking for your help and that of your enrolled patients to assist us in completing information profiles and clinical records to fortify phenotypes for the current patient collection. The consenting is already in place for this. We know that this will entail considerable effort on your part as well as ours, but it will make the samples ultimately of considerable greater value for understanding inherited ophthalmic diseases and for the development of potential sight-saving treatments.
Please continue to work with us to make the current sample collection even more valuable. And please anticipate the date of December 31, 2015 to be the end date for receipt of samples to genotype under the current program. Again, thank you for participating in eyeGENE®.
Paul A. Sieving, MD, PhD
Santa J. Tumminia, PhD
NEI eyeGENE® Program Officer