Blueprint Genetics to provide diagnostic testing for National Eye Institute’s eyeGENE initiative

March 19, 2019

Beginning in March 2019, Blueprint Genetics will provide diagnostic testing as part of the National Eye Institute’s (NEI) eyeGENE initiative. EyeGENE’s core mission is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatment.

A major part of the genetic diagnostic testing provided for the NEI focuses on retinitis pigmentosa. It also includes other ophthalmic diseases such as Leber congenital amaurosis, achromatopsia, and macular dystrophy. Testing is performed via next-generation sequencing (NGS) analysis, with an exome-based custom platform and bioinformatics as developed by Blueprint Genetics.

Maximizing genetic diagnostic yield in retinal dystrophies requires significant tailoring of the technology from the laboratory performing the testing.

“Working with a unique technology and analyzing thousands of patients in this space has really opened our eyes to the significant role difficult-to-sequence variants play in retinal dystrophy patients. Maximizing the diagnostic yield requires improved resolution for small intragenic copy number variants, boosted performance for the analysis of the mutation hotspot RPGR ORF15, and incorporation of clinically significant non-coding variants that are not included in standard NGS platforms. It is exciting to witness the significant improvements we are seeing with our technology”, said Blueprint Genetics Chief Medical Officer and co-founder Tero-Pekka Alastalo, MD, PhD.

Comprehensive panel-based genetic testing is becoming an essential tool for managing patients with retinal dystrophy, as it can clarify who might benefit from targeted treatments and clinical trials. Additionally, a genetic diagnosis can significantly shorten the diagnostic odyssey and decrease the need for additional, potentially invasive diagnostic tests. It can also be used to provide better prognostics, family risk stratification, and family planning.

Furthermore, there has been a recent and remarkable increase in the ability to detect disease-causing mutations in inherited ophthalmic diseases. This offers significant benefits for patients and their families, many of whom previously lacked a definitive diagnosis.

“As a result of decades of research and new genetic knowledge being available, gene-based therapies are already demonstrating the potential to improve different forms of inherited vision loss. Also, a growing number of new clinical trials and treatment options are on the horizon,” Alastalo continued.

The first FDA-approved gene therapy is a one-time treatment for individuals with retinal diseases, such as Leber congenital amaurosis and RPE65-associated retinitis pigmentosa. The impact of targeted treatments and gene therapies is in their specificity. In-depth knowledge of these individual genes is extremely important for the development of these treatments.

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community.

Blueprint Genetics is one of the fastest-growing genetic diagnostics businesses globally in the field of clinical genetic testing of rare inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 40 countries.

Further information

Tero-Pekka Alastalo, CMO and co-founder,
Juulia Simonen, communication manager,

Subscribe to our press releases